tag:blogger.com,1999:blog-100812812024-03-16T11:52:31.495-07:00At Risk for Huntington's DiseaseHD is a genetically caused brain disorder that causes uncontrollable bodily movements and robs people's ability to walk, talk, eat, and think. The final result is a slow, ugly death. Children of parents with HD have a 50-50 chance of inheriting the disease. There is no cure or treatment.Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.comBlogger330125tag:blogger.com,1999:blog-10081281.post-16347080950405059272024-03-02T16:30:00.000-08:002024-03-02T21:40:30.149-08:00Huntington’s disease community will 'get there' in search for therapies, CHDI chief scientist declares after ‘terrific’ conference<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">After presiding over a “terrific” research conference, CHDI
Foundation Chief Scientific Officer Robert Pacifici, Ph.D., declared that the
Huntington’s disease community will “get there” in the search for long-awaited
therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici commented in an interview with me on March 1,
after the CHDI-sponsored 19th Annual HD Therapeutics Conference, held in Palm
Springs, CA, from February 26-29.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The CHDI chief scientific officer (CSO) provided his
optimistic assessment in referencing the featured presentation by <a href="https://www.vrtx.com/our-company/leadership/david-altshuler/" rel="nofollow" target="_blank">David Altshuler, M.D., Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
CSO of the Boston-based <a href="https://www.vrtx.com/en-us/" rel="nofollow" target="_blank">Vertex Pharmaceuticals</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“They’ve solved some unbelievably difficult problems,” Dr.
Pacifici said of Vertex, noting that it found a cure for hepatitis C.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Vertex has also developed <a href="https://www.vrtx.com/en-us/medicines/our-approved-medicines/" rel="nofollow" target="_blank">therapies for three tough diseases</a>
that, like HD, are genetic: cystic fibrosis,
sickle cell disease, and transfusion-dependent beta thalassemia.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">At future therapeutics conferences, “we would love for the
last talk” to focus on a new drug that is “now going to be approved,’” Dr.
Pacifici told me.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We’re going to get there,” he continued. Dr. Altshuler, who
Dr. Pacifici said carefully calibrates his optimism, “was very complimentary
and very confident that if we stay on this path, we’ll actually achieve that.
He felt that the collective efforts that CHDI is trying to catalyze throughout
the community are going to be successful.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici pointed out how CHDI has adhered to another key
principle of drug discovery emphasized by Dr. Althsuler: studying HD in human
cells, tissues, and postmortem samples.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici said he expects the HD field will hear more
from Dr. Altshuler and welcomed Vertex’s possible revived involvement.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2010 I <a href="https://curehd.blogspot.com/2010/09/out-of-closet-and-on-to-cure.html" rel="nofollow" target="_blank">spoke on my family’s fight</a> against HD at the Vertex labs in San Diego and chronicled its
search at the time for <a href="https://curehd.blogspot.com/2010/12/vertex-and-new-wave-of-huntingtons.html" rel="nofollow" target="_blank">an HD therapy</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
though so far without results reported by that lab.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><span style="mso-spacerun: yes;"> </span> <br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZJ19XZUHSW0_vjSroB_2m8Ny1JJWU-FVr6KgRVvL3pSWZzys3znZwJWjF3o8xOhw0Xh3kglcaG1SfJiOliDvDytnB0J3-rX0u-o5ILarVRYrsAyb_zcomvRqP7eTTAZTtgpgb3DVy5v4XobSyFZ6h4-b803v_DYbU4rqDHxaNGTzEnhbY_ohniQ/s1280/Altshuler-CHDI2024.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="836" data-original-width="1280" height="261" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgZJ19XZUHSW0_vjSroB_2m8Ny1JJWU-FVr6KgRVvL3pSWZzys3znZwJWjF3o8xOhw0Xh3kglcaG1SfJiOliDvDytnB0J3-rX0u-o5ILarVRYrsAyb_zcomvRqP7eTTAZTtgpgb3DVy5v4XobSyFZ6h4-b803v_DYbU4rqDHxaNGTzEnhbY_ohniQ/w400-h261/Altshuler-CHDI2024.jpeg" width="400" /></a></div><br /><i>Dr. David Altshuler presenting a timeline of Huntington's disease scientific landmarks at the 19th Annual Therapeutics Conference, February 28, 2024. Pictured in the slide is James Gusella, Ph.D., whose lab discovered the huntingtin genetic marker in 1983 and the gene in 1993 (photo by Gene Veritas, aka Kenneth P. Serbin, and posted with permission of CHDI Foundation). (Click on the image to make it larger.)<br /></i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The
need to celebrate milestones</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“But I think what you will see is incremental successes,”
Dr. Pacifici continued. “We’re going to have these new findings, these critical
milestones and stepping stones along the way that we should embrace and
celebrate and use those as a source of hope that, even though it never moves as
fast as we would like, we’re making very real, tangible progress”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici described the 19th conference as “terrific,”
noting that more than 450 people – a record – 50 companies, and 70 academic
institutions took part. He recalled how no biopharma firms attended the first
few conferences. Now such companies “come to a conference because they think an
area is ripe for discovery,” he observed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“Everybody commented on how quickly the conference went this
year,” Dr. Pacifici said. “There was just so much information and so much
happening and actually people were sad when it was over.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I found this, my twelfth CHDI conference, particularly exhilarating
because of the amount of new data and the high quality of the presentations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A virtual nonprofit biotech, CHDI is the largest private
funder of HD research. As in our interviews at past therapeutics conferences,
Dr. Pacifici summarized the key findings of the scientists’ presentations.
Watch our 39-minute interview in the video below.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div style="padding: 56.25% 0px 0px; position: relative;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><iframe allow="autoplay; fullscreen; picture-in-picture; clipboard-write" frameborder="0" src="https://player.vimeo.com/video/918568167?badge=0&autopause=0&player_id=0&app_id=58479" style="height: 100%; left: 0; position: absolute; top: 0; width: 100%;" title="Celebrating milestones as hope in the search for Huntington's disease therapies"></iframe></span></div><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><script src="https://player.vimeo.com/api/player.js"></script><br /></span><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Key developments</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici explained several key developments.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The session on new data and insights into the basic biology
of HD included presentations that help </span><span style="font-family: "Times New Roman",serif;">“to
understand exactly how we can custom craft the profile of candidate drugs to
make sure that they hit the right things and are as safe as possible,” Dr.
Pacifici said. Such crafting would mean that drugs could effectively address
the numerous specific problems in HD, he added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Another session
“shined a bright light” on DNA repair, modifier genes, and somatic instability,
the tendency of the deleterious expansion of the DNA to worsen with age and
therefore trigger disease onset, Dr. Pacifici said. The new findings can
contribute to the ongoing effort to “manipulate” these processes to
slow or stop instability and therefore prevent the disease, he explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Including talks
detailing HD at the cellular and molecular level, the session titled “It’s a
Brain Disease” was “unbelievably informative” about specifying how HD harms the
brain, Dr. Pacifici said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Clinical
trial news and the importance of participation in research</span></b><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The final
session featured clinical trial updates from <a href="https://www.uniqure.com/programs-pipeline/pipeline" rel="nofollow" target="_blank">uniQure</a>,
<a href="https://www.ptcbio.com/our-pipeline/" rel="nofollow" target="_blank">PTC Therapeutics</a>,
and <a href="https://www.roche.com/solutions/pipeline" rel="nofollow" target="_blank">Roche</a>.
None of these has yet reached Phase 3, the definitive test of a drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Referring
to the 2021 results of Roche’s <a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank">first attempt at a Phase 3 trial</a>,
Dr. Pacifici noted that the firm’s scientists “have really gone to town and
reanalyzed the samples,<span style="mso-spacerun: yes;"> </span>reanalyzed the
data in a way that is hopefully going to teach us not only why that particular
trial didn’t meet its endpoints” but also “what we can do differently.” Roche’s reassessment
of its drug, tominersen, in a Phase 2 trial, <a href="https://curehd.blogspot.com/2022/09/roche-confirms-second-more-focused.html" rel="nofollow" target="_blank">GENERATION HD2</a>,
is in progress.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Ultimately, the field needs a “conveyor belt” of new drug
possibilities to develop the multiple kinds of drugs necessary for treating
different aspects of HD, Dr. Pacifici concluded. Not all those new drugs will
be successful, he said, but the more produced, the greater likelihood for
successful therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Pacifici pointed out that many of the discoveries
discussed at the meeting resulted from the human data collected from tens of
thousands of research volunteers.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Future projects and breakthroughs will continue to rely on
large numbers of participants, he said. Some individuals may carry unique
genetic characteristics revealing new kinds of therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p><p>
<span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">“Hang in there,” Dr. Pacifici said in his closing
comment for the HD community. “I hope that next year at the 20th [conference] we’ll
have some more good news to communicate.”</span></p><p><span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"> </span></p><p><span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">Stay tuned for further news from the conference! <br /></span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-45115126905970296662024-02-27T13:50:00.000-08:002024-02-27T13:50:50.818-08:00At CHDI conference, advocates inspire acceleration of quest for Huntington’s disease therapies<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With a record 420-plus participants, the 19th Annual
Huntington’s Disease Therapeutics Conference got under way on February 26 with
the aim of speeding the quest for therapies to slow, halt, or reverse the
symptoms of this incurable disorder.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a>, the largest private funder of HD research, the
event runs through February 29 at the <a href="https://www.parkerpalmsprings.com/" rel="nofollow" target="_blank">Parker</a> hotel
in Palm Springs, CA, and will feature three days of scientific and clinical
presentations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“In recent years the quest for HD therapeutics that will
make a real difference to affected families has accelerated and deepened,” CHDI
Chief Scientific Officer Robert Pacifici, Ph.D., wrote in a welcome letter to
the participants. “Accelerated in the sense that every week seems to bring new
scientific insight, whether from publications or reports on new and ongoing
clinical initiatives. Deepened in the sense of the sophistication of our
understanding of the underlying HD biology that informs our drug development
work.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">HD research has also “broadened,” Dr. Pacifici added, noting
that participants are displaying a record 140-plus posters. Representatives
from 55 pharmaceutical and biotech companies and 69 academic institutions will take
part.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In his letter and opening remarks to the conference, Dr.
Pacifici outlined how CHDI has reorganized its scientific-thematic approach to
“better align” its activities “with this burgeoning body of knowledge.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The conference, following such themes, will focus on new
research into the roles of mutant huntingtin DNA, RNA, and protein in HD.
Conference-goers also will focus on the hot topic of somatic instability, the
tendency of the deleterious expansion of the DNA to worsen with age and
therefore trigger disease onset.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A
caregiver’s moving keynote and a vital TED Talk</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Following Dr. Pacifici’s overview, the audience watched a
deeply moving 80-minute keynote speech, not to be shared publicly,<span style="mso-spacerun: yes;"> </span>by <a href="https://www.roche.com/stories/elevating-the-patient-voice-in-huntingtons-disease" rel="nofollow" target="_blank">Cheryl Sullivan Stavely, RN</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
Stavely recounted her 30-plus years as an advocate and caregiver to her late
husband John and daughter Meghan, who both succumbed to HD. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Stavely thanked the scientists for their dedication and said
she hoped that 30 years from now HD conferences will become unnecessary with
the development of treatments.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Choking up at Stavely’s recollections of Meghan, I found the
keynote highly effective in summing up the many health and social challenges
faced by HD-affected people and their families such as the affected person
losing the ability to work and making insurance and end-of-life arrangements.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Scroll to the end of this article for photos of Stavely’s
presentation and others.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Earlier, I interviewed leading HD global advocate, Emmy
Award winning television journalist, and fellow HD gene expansion carrier
<a href="https://www.hiddennomore.com/" rel="nofollow" target="_blank">Charles Sabine</a> about his compelling <a href="https://www.youtube.com/watch?v=RsUfCKfyQYY" rel="nofollow" target="_blank">TED Talk</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
“The Unlimited Capability of Every Human.” Launched on February 1, the talk
already has had 4,500 views.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Sabine stressed the importance of making the presentation
“gather viral momentum” and transform the way HD is viewed by the general
public everywhere. I will explore the implications of Sabine’s vital talk in a
future article.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p><p>
<span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">Stay tuned for further coverage of the therapeutics
conference. </span></p><p><span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"> </span></p><p><span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpERPPsej2S23K14t_uPpqboO_jZOGx4Dg_loWjEtjfUUTBurZlSAOuwGm_bhVW3d0GcC0palH59744_Qypw-Dr28RKoqDXiSk-JRUN25Ljp_4FQBtk8Bv_qp0uN_xZgoOGlv0nOeooawtPVC71sVNniCJJwDs5bzid1NKIB1clBohJU9MSSYx3A/s1280/Cheryl-Meghan.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="934" data-original-width="1280" height="293" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpERPPsej2S23K14t_uPpqboO_jZOGx4Dg_loWjEtjfUUTBurZlSAOuwGm_bhVW3d0GcC0palH59744_Qypw-Dr28RKoqDXiSk-JRUN25Ljp_4FQBtk8Bv_qp0uN_xZgoOGlv0nOeooawtPVC71sVNniCJJwDs5bzid1NKIB1clBohJU9MSSYx3A/w400-h293/Cheryl-Meghan.jpeg" width="400" /></a></div><br /><i>Displaying a slide of daughter Meghan, Cheryl Sullivan Stavely delivers the keynote address at the 19th HD Therapeutics Conference, February 26, 2024 (this and the photos below by Gene Veritas, aka Kenneth P. Serbin).</i><p></p><p><span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"><i><br /></i></span>
</p><p><span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpT6SJa_-ZWPMPtHfcGenBRYNNXMAx3h5XyRIL0HcjDqUF3qTVvaTxeJvr6r_rKP1Tz60AdvcyaZNtODsl-hP0uEkcYFoELQ-qNGhQLcY_TkeNaLMUNVgbmiooACflNBXGvdGP_ArbpKr3m96l3m2XUwS1ChEuglgNOA0iU1WYUsKkGrf90ryN5w/s1280/Cheryl-Keynote.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="734" data-original-width="1280" height="230" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjpT6SJa_-ZWPMPtHfcGenBRYNNXMAx3h5XyRIL0HcjDqUF3qTVvaTxeJvr6r_rKP1Tz60AdvcyaZNtODsl-hP0uEkcYFoELQ-qNGhQLcY_TkeNaLMUNVgbmiooACflNBXGvdGP_ArbpKr3m96l3m2XUwS1ChEuglgNOA0iU1WYUsKkGrf90ryN5w/w400-h230/Cheryl-Keynote.jpeg" width="400" /></a></div><br /><i>The audience watching Stavely's presentation</i><p></p><p><span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEihVdf-aadVuE3xKcUgY0omJIyBXdeGDpUtokHZXT2ZPGfBN0K3eqr5EOt-O7THZVQ7sx8clS9yyZcHZGwXWhB9H1QidxdBvLgQxJQz3tzXTapK4Q6rMc7nXD2SmKQbvkkQbyjcHpuArqOngDTRc6DcMdLuI0r8srAkDIGnD0OK8MgrPzWbRj8egA/s1280/Cheryl-Kevin.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1272" data-original-width="1280" height="398" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEihVdf-aadVuE3xKcUgY0omJIyBXdeGDpUtokHZXT2ZPGfBN0K3eqr5EOt-O7THZVQ7sx8clS9yyZcHZGwXWhB9H1QidxdBvLgQxJQz3tzXTapK4Q6rMc7nXD2SmKQbvkkQbyjcHpuArqOngDTRc6DcMdLuI0r8srAkDIGnD0OK8MgrPzWbRj8egA/w400-h398/Cheryl-Kevin.jpeg" width="400" /></a></div><br /><p></p><p><i>Cheryl Sullivan Stavely and husband Kevin Stavely</i></p><p><i> </i></p><p><i></i></p><div class="separator" style="clear: both; text-align: center;"><i><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg9k-8_39p4zW3eoZlJmpBXjA9VCKL18-0YyydwgTlXMMKAFp5CEE6jnIsuqWlHeu3U9vQ-81RMGeECVD555pIceTCn26IwbeMvtdxVjP-PDiE_scrsFbtfkz7pqDEV6DfORBTofo50EQp6CziNocrvaR-CTAM1h5pillKj4jJ3GKprsB-dC1K05Q/s1280/Leslie-Kevin-Cheryl.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="994" data-original-width="1280" height="311" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg9k-8_39p4zW3eoZlJmpBXjA9VCKL18-0YyydwgTlXMMKAFp5CEE6jnIsuqWlHeu3U9vQ-81RMGeECVD555pIceTCn26IwbeMvtdxVjP-PDiE_scrsFbtfkz7pqDEV6DfORBTofo50EQp6CziNocrvaR-CTAM1h5pillKj4jJ3GKprsB-dC1K05Q/w400-h311/Leslie-Kevin-Cheryl.jpeg" width="400" /></a></i></div><p></p><p><i>Leslie Thompson, Ph.D., of the University of California, Irvine, greeting Kevin and Cheryl Stavely</i></p><p><i> </i></p><p><i></i></p><p><i></i></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEja48G4bvAPJFoN9rvTgGjKtURlvl3d-HPcTPWEoKAidNkz3GoVCWURHRYmcCtSQtHz4OLzpYor4lahyphenhyphenr4FOPwhhMb4k0kO3FEnmatRMCzgkq5pNyrQVwj9dGtMR1I2TwmV9q5JyI1w82qeJxmez5gRJFkqQpUvW2mzU54gcFYuleA9BVYUtmo8jw/s1280/Cheryl-Anderson.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1272" data-original-width="1280" height="398" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEja48G4bvAPJFoN9rvTgGjKtURlvl3d-HPcTPWEoKAidNkz3GoVCWURHRYmcCtSQtHz4OLzpYor4lahyphenhyphenr4FOPwhhMb4k0kO3FEnmatRMCzgkq5pNyrQVwj9dGtMR1I2TwmV9q5JyI1w82qeJxmez5gRJFkqQpUvW2mzU54gcFYuleA9BVYUtmo8jw/w400-h398/Cheryl-Anderson.jpeg" width="400" /></a></div><p></p><p><i>Stavely with Karen Anderson, M.D., of Georgetown University</i></p><p><i> </i></p><p><i></i></p><p><i></i></p><p><i></i></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzs95KJbD2VxA5LHn4sIV14_Vnd6IJcthfDNYUqW2pPaBgiBKuFjpRDxwfbE4txye_nczMwDOLF_hy7dSoN3TbYB57_Eev-Dqw3KZAZcjH2pBIT6azl4kl-1vfQL-8BYObAdl24dWsnI-ANi3bOdrfq0KmnMN57FewUSpaZsv-J3St_re2rP3bHA/s1280/Cheryl-Haiying-Wenzhen.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="768" data-original-width="1280" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzs95KJbD2VxA5LHn4sIV14_Vnd6IJcthfDNYUqW2pPaBgiBKuFjpRDxwfbE4txye_nczMwDOLF_hy7dSoN3TbYB57_Eev-Dqw3KZAZcjH2pBIT6azl4kl-1vfQL-8BYObAdl24dWsnI-ANi3bOdrfq0KmnMN57FewUSpaZsv-J3St_re2rP3bHA/w400-h240/Cheryl-Haiying-Wenzhen.jpeg" width="400" /></a></div><br /><i></i><p></p><p><i>Stavely (left) with Haiying Tang, Ph.D., of CHDI and Wenzhen Duan, M.D., Ph.D., of Johns Hopkins University<br /> </i><br /></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-56493937000165730072024-02-12T21:02:00.000-08:002024-02-12T21:04:51.972-08:00Scientists interacting with Huntington’s disease patients in the quest for therapies<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In the quest for Huntington’s disease therapies, scientists
have found key intellectual fuel for understanding the genetics of this fatal
neurodegenerative disorder and developing therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A brainstorming strategy became the trademark of the
HD-focused <a href="https://www.hdfoundation.org/" rel="nofollow" target="_blank">Hereditary Disease Foundation</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
(HDF), founded in 1974 by leading Los Angeles psychoanalyst and HD activist
Milton Wexler as an offshoot of the <a href="https://hdsa.org/" rel="nofollow" target="_blank">Huntington’s Disease Society of America</a>
(HDSA)</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Wexler organized multidisciplinary small workshops of
scientists aimed at spontaneous discussion – as opposed to dry scientific
presentations with slides – to search for the HD gene and develop treatments
(<a href="https://curehd.blogspot.com/2023/11/new-book-by-longtime-advocate-describes.html" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more). </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://bri.ucla.edu/people/allan-j-tobin/" rel="nofollow" target="_blank">Allan Tobin, Ph.D.</a>, the former director of the Brain
Research Institute at the University of California, Los Angeles (UCLA), ran hundreds of workshops
for the HDF and later for <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a> (CHDI), today the main private funder of HD therapeutic research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Involving
the affected</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Many scientists have had little or no contact with HD
families, so the HDF has included individuals from those families in its
workshops. I was exposed to this approach in 2012, when Dr. Tobin transformed my
desire to simply blog about a <a href="https://curehd.blogspot.com/2012/06/yales-partnership-against-huntingtons.html" rel="nofollow" target="_blank">CHDI workshop</a> into an event that included a
90-minute discussion of HD’s health and social ramifications based on my
family’s story</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">On the morning of January 30, I once again interacted with
HD scientists, answering an invitation from HDF CEO Meghan Donaldson to offer
my “perspective as both a family member and someone who is
gene-positive,” aiming to help connect researchers “to the patients and the
disease and to strengthen their resolve for finding a treatment.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I not only spoke about my HD journey but also exchanged
ideas with the scientists about their mission of developing therapies and also the
many challenges faced by the HD community.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">For me, exploring science with researchers serves as both
<a href="https://curehd.blogspot.com/2013/09/advocacy-meets-science-and-medicine.html" rel="nofollow" target="_blank">mental enrichment and coping mechanism</a> as I strive to forestall what research
predicts will be my inevitable HD onset.
Of course, I hoped to contribute to the scientific mission.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLTqJAdClZt_rxac9e0Sp3-RVMQNdcz1sroc-qct0AqM-356NP2igxWbDeGM9Y9833moSyGA2Tt0-AIQP4RgNeuAa9mcbszP6MMrl-pkxx7_4KUhzAlXDouf1tPhOYmL6nhkfODaQx0ofv0KTx0-zcKl4iuH1mRSLPu3CUZIP-v9nKdXQd0KQd9A/s3697/GeneVeritas-HDF-2024.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1634" data-original-width="3697" height="176" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgLTqJAdClZt_rxac9e0Sp3-RVMQNdcz1sroc-qct0AqM-356NP2igxWbDeGM9Y9833moSyGA2Tt0-AIQP4RgNeuAa9mcbszP6MMrl-pkxx7_4KUhzAlXDouf1tPhOYmL6nhkfODaQx0ofv0KTx0-zcKl4iuH1mRSLPu3CUZIP-v9nKdXQd0KQd9A/w400-h176/GeneVeritas-HDF-2024.jpeg" width="400" /></a></div><br /><p></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">At the workshop: seated,
from left to right, Mahmoud Pouladi, M.Sc., Ph.D., Osama Al Dalahmah, M.D.,
Ph.D., Ashley Robbins, Gene Veritas (aka Kenneth P. Serbin), Sarah Hernandez, Ph.D.,
William Yang, M.D., Ph.D. Standing,
from left to right, Xinhong Chen, Andrew Yoo, Ph.D., Anton Reiner, Ph.D.,
Baljit Khakh, Ph.D., Nicole Calakos, M.D., Ph.D., Ed Lein, Ph.D., Beverly
Davidson, Ph.D., Nathaniel Heintz, Ph.D., Harry Orr, Ph.D., Leslie Thompson,
Ph.D., Myriam Heiman, Ph.D., Shawn Davidson, Ph.D., Steven Finkbeiner, M.D.,
Ph.D., Roy Maimon, Ph.D. (photo by Julie Porter, HDF) (Click on the image to enlarge it.)<br /></span></i></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Pondering
modifier genes and a proactive approach</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">My 80-minute encounter with 20 scientists kicked off the
two-day HDF Milton Wexler Interdisciplinary Workshop, held at the <a href="https://www.thehuntleyhotel.com/" rel="nofollow" target="_blank">Huntley Hotel</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
in Santa Monica, CA. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">To provide background, before the meeting HDF Director of
Research Programs <a href="https://www.hdfoundation.org/staff" rel="nofollow" target="_blank">Sarah Hernandez, Ph.D.</a>, sent the participants a copy of my
article “Striving for a Realistic and Unapologetic View of Huntington’s
Disease” from the <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837684/" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">Journal of Huntington’s
Disease</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the HDF’s permission, I recorded my remarks and Q &
A with the scientists. As is customary, the confidential, scientific portion of
the workshop was not recorded, to encourage uninhibited brainstorming.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">After Dr. Sarah Hernandez introduced me, I gave an overview
of my family’s fight against HD, including my mother’s diagnosis with the
disorder in 1995, the genetic test revealing my risk in 1999, my gradual exit
from the “terrible and lonely HD closet,” and strategies for delaying onset.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I discussed the possible key role of modifier genes in
enabling me to reach the age of 64 still fully functioning – in contrast with
my mother, whose symptoms began in her late 40s, ending with her death at the
age of 68 (<a href="https://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Just before the meeting, I had discussed with two of the
scientists that “maybe I should get my genome sequenced and find out if I
actually have any of those modifier genes,” I told the scientists. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I noted, however, that no routine genetic tests exist for
these genes and that establishing them might “open a whole new Pandora's box of
bioethical considerations,” given the potential for unsettling messages. We'd
have to have new protocols.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“So, yes, I think it might be good to have those tests, but
we've got to think very carefully about jumping into that,” I said. “But maybe
for science, I could do my own whole genome sequence and write a blog article
about it and analyze my modifier genes.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I stressed that a “proactive approach is absolutely
essential.” That option was unavailable to my mother, the first person to
develop HD in an extended family with no knowledge of the disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Seeking
to manage HD</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The scientists probed various facets of my family’s HD
experience and my advocacy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I explained the importance of the HDSA-San Diego support
group in providing vital information about such matters as genetic testing and
obtaining long-term care insurance. I also discussed my timeline for testing
and how I did so anonymously. I reflected on how my colleagues at the
University of San Diego reacted positively to my exit from the closet and
the full-throated advocacy that I could now pursue.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The concerns about discrimination led me to underscore the
importance of the Affordable Care Act and the Genetic Information
Nondiscrimination Act in eliminating discrimination against those with
preexisting conditions.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Some wanted to know about the very difficult social and
psychological challenges involved in genetic testing, and how to convince those
worried about HD to reach out to medical professionals.<span style="mso-spacerun: yes;"> </span></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Given how devastating the discovery of HD in a family can
be, I advocated a “gentle” and gradual approach to getting people involved,
recalling that research studies such as <a href="https://www.enroll-hd.org/" rel="nofollow" target="_blank">Enroll-HD</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
allow people to participate anonymously and without knowing their genetic test
results.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I pointed out that, despite the fear and devastation
associated with HD, today the HD community has real hopes for clinical trials
of HD-specific remedies. Such hope did not exist a quarter-century ago. As I
tell younger people just starting their struggle against HD, although “there
may not be the magic bullet,” HD might ultimately be “managed like other
diseases are managed like heart disease, diabetes, and HIV.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Involving
presymptomatic people in trials</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I was both humbled and thrilled that the scientists wanted
my observations on various aspects of the search for therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In my opening remarks, I had stated that, in comparison with
the start of my HD journey in the late 1990s, thankfully it has been harder for
me to track the progress because of so many research and clinical trial
programs. In her introduction, Dr. Hernandez noted that I am at work on a
biosocial history of the HD movement.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">UCLA neuroscientist <a href="https://medschool.ucla.edu/people/baljit-s-khakh-phd" rel="nofollow" target="_blank">Baljit Khakh, Ph.D.</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
asked whether I could identify “errors” to be avoided or “strengths” to be
reproduced, as well as trends worth noting.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In response, I expressed my frustration about the lack of
opportunity for presymptomatic gene carriers like me to participate in clinical
trials. The now defunct Triplet Therapeutics, Inc., had planned <a href="https://curehd.blogspot.com/2022/10/after-abrupt-shutdown-of-triplet.html" rel="nofollow" target="_blank">such a trial</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
I observed, and that the Alzheimer’s disease field has had such a trial.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We're a valuable resource,” I said, recognizing that such
trials require approval by the U.S. Food and Drug Administration and also
involve bioethical and financial considerations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">However, I also observed that “the field's done a great job
of trying to diversify [drug] targets,” because of the many types of approaches
under research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Addressing
the cognitive deficit</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://www.rockefeller.edu/our-scientists/heads-of-laboratories/1181-nathaniel-heintz/" rel="nofollow" target="_blank">Nathaniel Heintz, Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of The Rockefeller University asked about the importance of clinical trials to
test drugs to treat just symptoms, without modifying the course of the disease.
Treatments developed for other diseases, like Parkinson’s, benefit millions, he
noted, but does HD as a rare disease face a greater challenge to attract trial
volunteers?</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I observed that HD now <a href="https://curehd.blogspot.com/2023/08/adding-to-arsenal-of-movement-disorder.html" rel="nofollow" target="_blank">has three treatments for chorea</a>,
the involuntary, dancelike movements experienced by many of the affected.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">However, I also pointed out that HD clinical trials are very
U.S.- and Europe-based, avoiding important countries such as Brazil, which was
not included in Enroll-HD. I observed how HD families in Brazil and other parts
of the world are “desperate to participate in clinical trials.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://neuroscience.caltech.edu/people/xinhong-chen" rel="nofollow" target="_blank">Xinhong Chen</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
a lab researchers at the California Institute of Technology, touched on another
facet of Dr. Heintz’s question: what symptoms do people most want treated to
improve their quality of life?</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I pointed to the importance of reducing the “cognitive
deficit” that occurs with HD and prevents people from engaging in daily
functions, caring for themselves, and communicating with others. I added that I
had hoped to take pridopidine, a pill developed for this purpose. Sadly, the
<a href="https://curehd.blogspot.com/2023/04/after-another-critical-huntingtons.html" rel="nofollow" target="_blank">pridopidine trial failed</a> in April 2023</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://developmentalbiology.wustl.edu/people/andrew-yoo/" rel="nofollow" target="_blank">Andrew Yoo, Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of Washington University in St. Louis, wanted to know how to overcome the lack
of interest in HD and related research in his native South Korea. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The leadership of the HDF, CHDI, HDSA, and the Huntington
Study Group (HSG) should push for greater “diversity” on the international
level, I said, suggesting that the HSG could send a delegation to South Korea.
Also, advocates and medical personnel can spur action on HD, Alzheimer’s, and
other neurodegenerative diseases by alerting people to the caregiving crisis,
which is global, I observed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The
scientists get down to business </span></b></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I was energized by my exchange with the scientists.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">After my session, the workshop participants took up the main
business of the rest of that day and the next: “cell type specific biology in
Huntington’s disease.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">That activity was chaired by <a href="https://yanglab.npih.ucla.edu/" rel="nofollow" target="_blank">William Yang, M.D., Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of UCLA, <a href="https://heiman.mit.edu/myriam-heiman/" rel="nofollow" target="_blank">Myriam Heiman, Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of the Massachusetts Institute of Technology, and <a href="https://bms.ucsf.edu/people/steve-finkbeiner-md-phd" rel="nofollow" target="_blank">Steven Finkbeiner, M.D., Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of the University of California, San Francisco. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Through their brainstorming – the first session of which I
observed – the participants aimed to advance ideas for HD therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">On January 29, I lunched with Dr. Yang, gave a slide
presentation on my advocacy to his research team, and toured his lab. I also
interviewed Dr. Yang on his latest research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Stay tuned for my next article: Dr. Yang’s long interest in
HD and his enthusiastic outlook for potential therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><i style="mso-bidi-font-style: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Disclosure:
the Hereditary Disease Foundation covered my workshop travel expenses.</span></i></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjOe6OL9wOsVyONlqPgBnpSoaJ8RLH-X9-tctUwJpZ0tX83XnDkLEeap4cmlNe9uMYBqHEAFwLH3rYwU421Wrxe7P8kkmcerdclEBHwrX_HJNEgIqwLWioMeB8DgBsHdKaF-cvECmbSbmeF6SZLVfbsrwGK7itM4QO7NpfiXQFi_BZX-Tpq2H7sPw/s3210/GeneVeritas-WilliamYang-MediumSpinyNeuron_2024.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2139" data-original-width="3210" height="266" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjOe6OL9wOsVyONlqPgBnpSoaJ8RLH-X9-tctUwJpZ0tX83XnDkLEeap4cmlNe9uMYBqHEAFwLH3rYwU421Wrxe7P8kkmcerdclEBHwrX_HJNEgIqwLWioMeB8DgBsHdKaF-cvECmbSbmeF6SZLVfbsrwGK7itM4QO7NpfiXQFi_BZX-Tpq2H7sPw/w400-h266/GeneVeritas-WilliamYang-MediumSpinyNeuron_2024.jpeg" width="400" /></a></div><br /><i>Gene Veritas (left) with Dr. William Yang in his UCLA
office. In the background: a medium spiny neuron, one of the brain cells most affected by
Huntington’s disease (photo Nan Wang, Ph.D., of the Yang Research Group).</i><p></p>
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{page:WordSection1;}</style> </p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-20236216463118898012023-11-08T21:24:00.004-08:002023-11-10T23:02:36.138-08:00New book by longtime advocate describes Milton Wexler’s incomparable contributions to Huntington’s disease research and beyond<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A new book portrays the largely unexplored personal and
psychological context of the quest to understand and defeat Huntington’s
disease: a biographical memoir of Milton Wexler (1908-2007), the founder of the
<a href="https://www.hdfoundation.org/" rel="nofollow" target="_blank">Hereditary Disease Foundation</a>
(HDF) and key mover in the discovery of the HD gene.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In late 2022, Wexler’s daughter, historian <a href="https://www.hdfoundation.org/our-story" rel="nofollow" target="_blank">Alice Wexler</a>, published <a href="https://cup.columbia.edu/book/the-analyst/9780231202787" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">The Analyst: A Daughter’s Memoir</i></a> (Columbia University
Press). She is a longtime Huntington’s disease advocate and chronicler of the
cause.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><i style="mso-bidi-font-style: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The
Analyst</span></i><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> adds unique dimensions to HD history, building on Alice’s
groundbreaking work. In 1995 she authored <i style="mso-bidi-font-style: normal;"><a href="https://www.ucpress.edu/book/9780520207417/mapping-fate" rel="nofollow" target="_blank">Mapping
Fate: a memoir of family, risk, and genetic research</a> </i>(first published by
Random House and Times Books, then reissued by the University of California
Press). In 2008, she wrote <a href="https://www.amazon.com/Woman-Who-Walked-into-Sea/dp/0300105029/ref=pd_bbs_sr_1?ie=UTF8&s=books&qid=1219951521&sr=8-1" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">The Woman Who
Walked into the Sea: Huntington’s and the Making of a Genetic Disease</i></a>
(Yale University Press).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">This year marks the 30th anniversary of the discovery of the
huntingtin gene, announced in March 1993. Through the HDF and in collaboration
with a global team of scientists, Milton and his neuropsychologist daughter
Nancy, Alice’s sister, spearheaded the hunt for the gene, as recounted in <i style="mso-bidi-font-style: normal;">Mapping Fate</i>. In <i style="mso-bidi-font-style: normal;">The Woman Who Walked into the Sea</i>, Alice explored the social and
medical history of HD in the 19th and 20th centuries, helping <a href="https://curehd.blogspot.com/2008/08/roots-of-our-stigma.html" rel="nofollow" target="_blank">explain the stigma</a> HD families still face</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The sisters’ mother Leonore was diagnosed with HD at the age
of 53 in 1968. That led Milton to immediately start the HDF, which focused on
the development of treatments. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 1993 the discovery of huntingtin “immediately transformed
Huntington’s research,” Alice writes in <i style="mso-bidi-font-style: normal;">The
Analyst</i>. “Suddenly it was possible for researchers to make animal and cell
models and study how the gene worked at the cellular and molecular level. They
could test drugs and other molecules in mice and sheep, fish and flies, as well
as in human beings.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Milton was “ecstatic and also relieved,” Alice recalls. “We
even allowed ourselves to imagine that a treatment, and possibly a cure, might
be on the horizon.” HDF-sponsored researchers and other scientists around the
globe are still striving to achieve that goal.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhkn3OQ-gJ0vTAJk7viT_BJVZGy5vuorAU8O6gbBOd-NC3XcREuPhYMyAjtANBxsHcwl7y2bNPnfebA9c04ULJ6sfztleQJ6-KsO_Kd00htwI2Q0OlP55GnPl412wse7hmGPzEUbMaIAtuawFVHDgzmbdU4K3Hxhs3VT8OLAOhIGJDDjBUTf3P9iw/s1834/TheAnalystCover.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1834" data-original-width="1280" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhkn3OQ-gJ0vTAJk7viT_BJVZGy5vuorAU8O6gbBOd-NC3XcREuPhYMyAjtANBxsHcwl7y2bNPnfebA9c04ULJ6sfztleQJ6-KsO_Kd00htwI2Q0OlP55GnPl412wse7hmGPzEUbMaIAtuawFVHDgzmbdU4K3Hxhs3VT8OLAOhIGJDDjBUTf3P9iw/w279-h400/TheAnalystCover.jpeg" width="279" /></a></div><i style="mso-bidi-font-style: normal;"><br /></i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Meeting’s
life’s difficult challenges</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Drawing on access to her father’s extensive personal
correspondence, her diary, and archival sources enabled Alice, with decades of
hindsight, to present her father’s story – in which the fight against HD became
his life mission – in intimate detail.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Describing Milton, Alice is meticulous, often critical, but
always loving – a reflection of the complex relationship of a highly successful
professional with daughters that he wanted the best for and whose lives he
fought for. She adds a valuable feminist perspective, for example, interpreting
her father’s friendships by analyzing masculinity and male intimacy in the
1950s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In addition to Milton’s incomparable contributions to HD
research, <i style="mso-bidi-font-style: normal;">The Analyst</i> depicts key
aspects of American life in the second half of the 20th century. It delves into
Jewish life in Brooklyn, which spurred Milton’s ambitions, taking him to Kansas
and then to Los Angeles. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Portraying her father’s main career as a psychoanalyst,
Alice helps to rescue the history of a field that has lost relevance with the
emergence of other forms of therapy, though it continues as an intellectual field. Milton saw great value in psychoanalysis’s
way of helping people understand their emotions but he increasingly practiced
more direct forms of therapy, focused on the here-and-now. As he put it,
“insight alone does not change behavior.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Alice demonstrates how much of Milton's early career trying to understand and treat schizophrenia helped him to confront this other knotty problem, HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In an appendix, <i style="mso-bidi-font-style: normal;">The
Analyst</i> lists “sayings of Milton Wexler” – including a 1998 note to a
President Bill Clinton in crisis – regarding challenges such as the loss of a
child, self-defeat, depression, personal identity, loneliness, and risk for a
disease such as HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Milton’s embrace of talk therapy is a key reminder for HD
families overwhelmed by the disease's many social and personal
challenges that help is available, and that individual and family therapy can make a difference. He
believed that people should not have to struggle on their own. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In Los Angeles, Milton became a therapist for many in the
arts and entertainment – a practice that he parlayed into significant donations
for the HDF.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">(<a href="https://curehd.blogspot.com/2021/09/bidding-farewell-to-my-mind-coach-major.html" rel="nofollow" target="_blank">Click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more about my own journey with psychoanalysis as an aid to fighting
HD.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">‘The
nightmare is the children’</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With new material and perspective, Alice expands on the
difficult moments described in <i style="mso-bidi-font-style: normal;">Mapping
Fate</i> regarding<span style="mso-spacerun: yes;"> </span>Leonore’s diagnosis,
Milton’s deep fears that his daughters would be affected, and his<span style="mso-spacerun: yes;"> </span>“frantic search for information” about HD and
scientific contacts that in a matter of weeks spurred the concept of the HDF.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Leonore’s diagnosis and HD were “the great poison in my
life,” Milton wrote his brother Henry in May 1968 in a letter uncovered by
Alice. “But the nightmare is the children.[…] For me there is only dread in the
air.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Milton divorced Leonore but nevertheless cared for her
impeccably and guaranteed her financial security. Leonore died in 1978 at 63,
ten years after her diagnosis..</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Providing
intellectual fuel</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With his background in psychology and prior experience as an
attorney, Milton advocated for a multidisciplinary approach to solving HD and
other neurological disorders. He championed the interplay of psychoanalysis and
neuroscience in a move critical for HD research. He also grasped the growing
importance of molecular genetics and its potential value for Huntington’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">From this perspective Milton developed unique HDF workshops
involving informal, spontaneous discussion – as opposed to dry scientific
presentations with slides – as the main driver of the search for the HD gene
and the quest for treatments. The first took place in 1971. Held in hotel rooms
or at universities, these gatherings typically involved 15 to 20 participants.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As Alice reports, Milton believed that real creativity
resulted from “casual conversation and carefree association among people in the
same or related disciplines.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">While finding prestigious veteran scientists for HDF’s
advisory board, Milton recruited younger researchers, including women, as the
organization’s intellectual fuel.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As Alice observes, the HDF formed part of a trend in which
“philanthropy assumed an increasingly influential role in funding science and
meeting social needs.” Contributions to the HDF swelled. It established an
endowment to fund future workshops and critical research grants.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The
challenges of genetic testing</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Alice reflects on her family’s monumental role in finding
the gene and also the irony that neither she nor her sister chose to get the
genetic test – a test which “opened a Pandora’s box of legal, social, and
ethical challenges and raised many personal questions for Nancy and me.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The test developed shortly after the 1993 discovery of
huntingtin enabled 100 percent accuracy in detecting the HD mutation. Prior to
this, research had established that each child of an affected parent has a
50-50 chance of inheriting that mutation. As Alice showed in <i style="mso-bidi-font-style: normal;">The Woman Who Walked into the Sea</i>, deep
stigma and discrimination increased around HD in the 1900s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“None of us considered the possibility of the genetic test
to resolve the uncertainty,” Alice writes, referring to the time when she began
noticing subtle changes in Nancy. “For all our knowledge of psychology, we
turned to denial, that most primitive of defenses. We worried, we wondered, and
then we denied. It simply could not be.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Indeed, to this day, <a href="https://global.oup.com/academic/product/can-you-help-me-9780190684228?cc=us&lang=en&" rel="nofollow" target="_blank">only about ten percent</a> of persons at
risk for HD choose to be tested</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">At 81, Alice has not developed symptoms. In 2020, Nancy
<a href="https://www.nytimes.com/2020/03/10/health/huntingtons-disease-wexler.html" rel="nofollow" target="_blank">revealed her HD diagnosis</a> to the <i style="mso-bidi-font-style: normal;">New York
Times</i>. At
78, she bravely struggles with HD symptoms yet keeps abreast of the latest
scientific developments. She now works with a writer on her memoir.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Solidarity
and hope</span></b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Along with <i style="mso-bidi-font-style: normal;">Mapping
Fate</i> and <i style="mso-bidi-font-style: normal;">The Woman Who Walked into
the Sea</i>, Alice’s warm portrayal of her father in <i style="mso-bidi-font-style: normal;">The Analyst</i> shows how he helped the HD community advance in
understanding the disorder and seek anxiously awaited treatments to slow, stop,
or reverse the disease. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Milton lived a full, fascinating, and challenging life,
dying peacefully in 2007 at age 98, at Alice and Nancy’s side. In multiple
ways, he serves as a model – especially for the idea that when faced with an
enormous and difficult challenge, becoming an activist can be the best form
of<span style="mso-spacerun: yes;"> </span>therapy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The legacy of the discovery of huntingtin, as well as HDF’s
scientific leadership, help build solidarity and hope for a better future for
HD and all other neurodegenerative diseases. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2_6Q0DcoZjASrztsk4p_hby9TSKZJ1YJCB8cAs5R5vli6fUvavt-tfxiJ1-89wZllH8wxJ8HYODYKXJlT6AMO0S30ShDfT01Sh1U6ubbq_aryTnseWdHJhrHi08OzKWv6QuK095UJvPkVMnsPWf6k65fQu2t188b7Xv6ctxUp8rPQd3FVFvFUxQ/s1755/Wexlers1992_Mariana-Cook-Photo.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1275" data-original-width="1755" height="290" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2_6Q0DcoZjASrztsk4p_hby9TSKZJ1YJCB8cAs5R5vli6fUvavt-tfxiJ1-89wZllH8wxJ8HYODYKXJlT6AMO0S30ShDfT01Sh1U6ubbq_aryTnseWdHJhrHi08OzKWv6QuK095UJvPkVMnsPWf6k65fQu2t188b7Xv6ctxUp8rPQd3FVFvFUxQ/w400-h290/Wexlers1992_Mariana-Cook-Photo.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><i>Milton Wexler flanked by daughters Nancy (left) and Alice in 1992 (photo by Mariana Cook)</i></span></p>
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{page:WordSection1;}</style> </p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-88566747565617141502023-08-29T22:03:00.002-07:002023-08-30T12:46:08.242-07:00Adding to arsenal of movement disorder drugs approved by FDA, Neurocrine pledges to seek anxiously awaited therapies to slow progression of Huntington’s disease<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://www.neurocrine.com/" rel="nofollow" target="_blank">Neurocrine Biosciences, Inc.</a>, announced on August 18 that the U.S. Food and Drug
Administration (FDA) has <a href="https://neurocrine.gcs-web.com/news-releases/news-release-details/neurocrine-biosciences-announces-fda-approval-ingrezzar" rel="nofollow" target="_blank">approved its drug INGREZZA</a> to treat chorea,
a debilitating movement disorder suffered by people with Huntington’s disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">INGREZZA is the third FDA-approved HD chorea drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Like the two previously approved, similar drugs for chorea
made by other drug companies, INGREZZA does <i style="mso-bidi-font-style: normal;">not</i>
fulfill what the HD community of scientists, advocates, and affected families
anxiously await: development and FDA approval of a drug to slow, halt, or
reverse the progression of the disease.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">INGREZZA <i>is</i> easier to take,
requiring just one daily dose, and its availability could deliver a therapy to those
suffering chorea, many of whom do not take the two other drugs.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Recognizing the need to go beyond treating just chorea,
Neurocrine’s scientific leadership has pledged to seek the development of
so-called disease-modifying therapies for HD, which other clinical trials have
<a href="https://curehd.blogspot.com/2023/04/after-another-critical-huntingtons.html" rel="nofollow" target="_blank">failed to achieve</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We have had an interest and a focus on HD and other rare
neurological disorders at Neurocrine for a long time,” <a href="https://www.neurocrine.com/our-company/leadership/eiry-w-roberts-m-d/" rel="nofollow" target="_blank">Eiry Roberts, M.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
Neurocrine’s chief medical officer, told me in a Zoom interview on August 25,
recalling that the San Diego-based biotech firm was founded in 1992. “Now, that
is not only focused on symptomatic treatments for rare neurological disorders,
but also on that very, very important area of disease modification and cures.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Huntington’s disease is “right front and center in our
neurology therapeutic area efforts on the research side,” Dr. Roberts added.
“Those obviously take a while to come through into the clinic. But we really
have a significant interest there, and understand the importance to the
community, as the community has been let down several times by failures in this
space. But the science is evolving very rapidly, and we want to be a part of
that as we move forward.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjlcRMhLYGayJ4GG4oYcAfRuw7Ck2wmfR69DZOWW_OV255g5t4g0esNifvRfL4ADVXPtu6JuUODWXfxho0nE5sd8xrvioT5eBwnDLuaJc1J1WopNUczxZvHZc8zKEQiP6aAtw3tMwoKe2DM2EbxnH0195Q18kj0avJ5tNlmxfj-CPo0C2l49Ba3Jg/s1280/Neurocrine-Interview-2023-08.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="850" data-original-width="1280" height="266" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjlcRMhLYGayJ4GG4oYcAfRuw7Ck2wmfR69DZOWW_OV255g5t4g0esNifvRfL4ADVXPtu6JuUODWXfxho0nE5sd8xrvioT5eBwnDLuaJc1J1WopNUczxZvHZc8zKEQiP6aAtw3tMwoKe2DM2EbxnH0195Q18kj0avJ5tNlmxfj-CPo0C2l49Ba3Jg/w400-h266/Neurocrine-Interview-2023-08.jpeg" width="400" /></a></div><br /><i>Clockwise from upper left: Aimee White, Neurocrine director of corporate communications, Gene Veritas (aka
Kenneth P. Serbin), Dr. Eiry Roberts, Neurocrine chief medical officer, and Dr. Dietrich Haubenberger, Neurocrine executive medical director and clinical lead for the KINECT-HD clinical trial during a Zoom call on August 25, 2023 (screenshot by Gene Veritas).<br /></i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A
drug earning large revenues</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2008, introduced into the U.S. by <a href="https://www.lundbeck.com/us" rel="nofollow" target="_blank">Lundbeck</a>, <a href="https://www.xenazineusa.com/" rel="nofollow" target="_blank">Xenazine</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
(tetrabenazine) became the first FDA-approved HD-specific drug of any kind and
is used to reduce chorea. In 2015 Xenazine/tetrabenazine became a generic drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2017, the FDA approved <a href="https://www.austedo.com/" rel="nofollow" target="_blank">Austedo</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
(deutetrabenazine), a very similar but <a href="https://curehd.blogspot.com/2015/02/huntingtons-disease-patients-feel.html" rel="nofollow" target="_blank">improved chorea drug</a> developed in San
Diego by Auspex Pharmaceuticals</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
but ultimately licensed by Israel-based pharma giant <a href="https://www.tevapharm.com/" rel="nofollow" target="_blank">Teva</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
which had acquired Auspex and the rights to the drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2017, INGREZZA was <a href="https://www.statnews.com/2017/04/11/tardive-dyskinesia-neurocrine-movement-disorder/" rel="nofollow" target="_blank">approved</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
by the FDA for the treatment of <a href="https://www.ninds.nih.gov/health-information/disorders/tardive-dyskinesia" rel="nofollow" target="_blank">tardive dyskinesia</a>, an
irreversible involuntary movement disorder unrelated to HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">INGREZZA – the compound valbenazine – has a different
chemical makeup than its predecessors. Like them, however, it is a <a href="https://pubmed.ncbi.nlm.nih.gov/30306450/" rel="nofollow" target="_blank">VMAT2 inhibitor</a>, designed to reduce
involuntary movements like chorea. VMAT2 inhibitors help regulate <a href="https://en.hdbuzz.net/348" rel="nofollow" target="_blank">dopamine</a>, a
chemical messenger in the brain that affects movements</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">INGEZZA’S prior approval by the FDA allowed Neurocrine to
skip the early phases of a clinical trial program and take the drug directly
into a definitive<span style="mso-spacerun: yes;"> </span>Phase 3 trial run in
partnership with the <a href="https://huntingtonstudygroup.org" rel="nofollow" target="_blank">Huntington Study Group</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
the world’s largest HD clinical research network, with deep experience in
running drug trials, <a href="https://curehd.blogspot.com/2019/11/navigating-huntingtons-disease.html" rel="nofollow" target="_blank">including for Xenazine and Austedo</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Xenazine requires three daily doses, Austedo two, but
INGREZZA just one – although in anticipation of Neurocrine’s entry into the
market with INGREZZA, Teva received permission from the FDA in February to
<a href="https://www.fiercepharma.com/pharma/teva-racks-approval-new-formulation-its-cns-blockbuster-waiting-austedo" rel="nofollow" target="_blank">reduce the daily dose to just one</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://www.fiercepharma.com/pharma/teva-racks-approval-new-formulation-its-cns-blockbuster-waiting-austedo" rel="nofollow" target="_blank">.</a>
Nevertheless, Austedo requires <a href="https://www.austedohcp.com/huntingtons-disease-chorea/dosing-and-titration" rel="nofollow" target="_blank">titration</a>,
that is, slowly increasing the dosage over weeks. INGREZZA is always just one
pill.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Both Teva and Neurocrine have earned hundreds of millions of
dollars annually with their respective drugs (on INGREZZA, for example, <a href="https://www.statnews.com/2021/12/08/biogen-aduhelm-al-sandrock-michel-vounatsos-company-reckoning/" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more). </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEizs9tZsd0hB_XLK-a-lTGrVZc3x0aqi9de5KFWX8sY2gIotPRhurIMBEO_7tmCsQafRwJyOkL2pF_Jnz2L89nUdOzCBXFBSkM-ahupkwzhB7_UbnxiSSp3HK0IRCmwqtHmcO24LLXljpmwNAzVC8laSVt6f41BarIjESHwOU7Grj7EiGHIhDu2lQ/s1280/Neurocrine-logo.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="236" data-original-width="1280" height="74" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEizs9tZsd0hB_XLK-a-lTGrVZc3x0aqi9de5KFWX8sY2gIotPRhurIMBEO_7tmCsQafRwJyOkL2pF_Jnz2L89nUdOzCBXFBSkM-ahupkwzhB7_UbnxiSSp3HK0IRCmwqtHmcO24LLXljpmwNAzVC8laSVt6f41BarIjESHwOU7Grj7EiGHIhDu2lQ/w400-h74/Neurocrine-logo.jpeg" width="400" /></a></div><br /><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Life
with HD in the U.S. before anti-chorea drugs</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“Most people with HD experience chorea, an abnormal
involuntary movement disorder, characterized by irregular and unpredictable
movements,” the Neurocrine <a href="https://neurocrine.gcs-web.com/news-releases/news-release-details/neurocrine-biosciences-announces-fda-approval-ingrezzar" rel="nofollow" target="_blank">press release</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
observed.<span style="mso-spacerun: yes;"> </span>“Chorea can affect various body
parts and interfere with motor coordination, gait, swallowing and speech.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In the U.S., before the approval of Xenazine, at least some
HD families got tetrabenazine from Canada, where the drug was legal.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">My mother, who died of HD in 2006 at the age of 68 – two
years before the Xenazine approval –was never able to take tetrabenazine for
chorea. Instead, she was prescribed <a href="https://www.ncbi.nlm.nih.gov/books/NBK560892/#:~:text=Haloperidol%20is%20a%20first%2Dgeneration,such%20as%20hallucinations%20and%20delusions." rel="nofollow" target="_blank">haloperidol</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
although we heard from HD advocates and family members that this drug could
have very negative side effects. My mother switched to Zyprexa (<a href="https://www.ncbi.nlm.nih.gov/books/NBK532903/#:~:text=Olanzapine%20is%20a%20second%2Dgeneration,including%20mixed%20or%20manic%20episodes." rel="nofollow" target="_blank">olanzapine</a>),
an antipsychotic medication. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Early in my family’s journey with HD – I tested positive for
the HD mutation in 1999 – I took Zyprexa for depression and anxiety.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Thankfully, at 63 <a href="https://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">I have reached an age</a> about 15 years
beyond my mother’s age of HD onset</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
and have not experienced chorea.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Changing
the treatment landscape, providing options</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In the U.S., the availability of <i style="mso-bidi-font-style: normal;">three</i> chorea drugs in a span of just 15 years has vastly changed
the treatment landscape. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“Chorea associated with HD can significantly affect the
quality of life of a person living with HD by impacting their daily activities,
social life, independence and overall well-being,” said Louise Vetter,
President and CEO of the <a href="https://hdsa.org/" rel="nofollow" target="_blank">Huntington's Disease Society of America</a> (HDSA). “The approval of INGREZZA for HD chorea means that people
living with HD have a new treatment option to help manage their chorea
symptoms, which is a welcomed milestone in efforts to improve care for families
affected by HD.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“The convenience of once-a-day dosing will make it appealing
to patients and families,” Martha Nance, M.D., director of the HDSA Center of
Excellence at <a href="https://www.hennepinhealthcare.org/specialty/neurology/huntingtons-disease-clinic/" rel="nofollow" target="_blank">Hennepin Health Care</a>,
wrote me in e-mail on August 23. “And remember, everyone is different – some
people will prefer one of the older drugs, while others will likely respond
better to the new one. It is wonderful to have options!”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Both Xenazine and Austedo are extended release; they offer
gradual introduction into the system over time. They are also tablets, making
it difficult for patients and caregivers to crush for use in food or a feeding
tube.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As Dr. Roberts explained, breaking a medication can lead a
patient to experience a very different effect from the one intended.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In contrast, INGREZZA is a capsule and non-extended,
potentially providing physicians and patients greater flexibility in dosing. It
can be crushed and given in different quantities.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">INGREZZA’S one capsule, once-daily dose “may be of huge
benefit to patients with swallowing difficulties or those in need of reminders
to take medication,” <a href="https://neurosciences.ucsd.edu/centers-programs/huntingtons-disease/index.html" rel="nofollow" target="_blank">Jody Corey-Bloom, M.D., Ph.D.,</a> observed in an e-mail on
August 25. She added that the approval of the new drug “may also be helpful in
curbing the price point of anti-chorea agents,” given the competition.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjSY3TYNO647osRypylWDAK8k8qZJ5QvCanOsyip5bb1YA-kITp9jir4x6EI2H0hhBl65piXnFk-rdIRB7TFz7uutR-Rrm3HQVVj9eKppFWvm7oBPEDvrDbh0i0yxXEZf51oEAEiOWKi6SJMqbSkh17hdE_ygpcygY9OAVPJ-lAdIp8wlxZW6GAaw/s431/INGREZZA-logo.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="117" data-original-width="431" height="109" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjSY3TYNO647osRypylWDAK8k8qZJ5QvCanOsyip5bb1YA-kITp9jir4x6EI2H0hhBl65piXnFk-rdIRB7TFz7uutR-Rrm3HQVVj9eKppFWvm7oBPEDvrDbh0i0yxXEZf51oEAEiOWKi6SJMqbSkh17hdE_ygpcygY9OAVPJ-lAdIp8wlxZW6GAaw/w400-h109/INGREZZA-logo.jpeg" width="400" /></a></div><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Was
a third chorea drug necessary?</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In the absence of disease-modifying therapies, the INGREZZA
approval has raised the question of whether a third chorea drug was necessary.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">At an August 22 online meeting of Neurocrine officials, HSG
clinical trial administrators, and HD advocates from North America and Europe,
I expressed this concern, asking whether developing INGREZZA was “the best way
for the community to focus its efforts.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Katie Jackson, the president/CEO of <a href="https://www.help4hd.org/" rel="nofollow" target="_blank">Help4HD International</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
echoed that concern from the community. With a strong online presence and
connections with the HD-focused biopharma firms, Help4HD widely announced the
INGREZZA news on social media.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Jackson, who lost her husband to HD and has three at-risk
children, said that the response from the HD community was “exactly what we're
talking about today: we already have Austedo. Why is this [the development of
INGREZZA] important?”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“I couldn’t agree more, in that, right, this is the third
VMAT-2 inhibitor,” said <a href="https://med.uth.edu/neurosciences/dr-erin-furr-stimming-md/" rel="nofollow" target="_blank">Erin Furr Stimming, M.D.</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
the HSG principal investigator for the Phase 3 trial, <a href="https://classic.clinicaltrials.gov/ct2/show/NCT04102579" rel="nofollow" target="_blank">KINECT-HD</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
referring to my question. “We absolutely acknowledge that this is a symptomatic
treatment. This is not a disease-modifying therapy. Chorea is only one of the
many symptoms that our patients struggle with on a daily basis.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEglZklO9wwMLkHE-21-cgiCVEJVYmssuqEfSwUD508_O8hxaCsAHY1Zj_AkyH5lcfJ2erkkQo3VnjfPqfGOeCd6tUV9PZeNzYEvFptZuDjo8ULq3lmCnpyo0fp8R3W_yho7ltpDFC6xiamThgaq62E8QlYKQcsPEFAyHcKDSqFbs94iGr_UipV2lQ/s1280/HSG_logo.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="640" data-original-width="1280" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEglZklO9wwMLkHE-21-cgiCVEJVYmssuqEfSwUD508_O8hxaCsAHY1Zj_AkyH5lcfJ2erkkQo3VnjfPqfGOeCd6tUV9PZeNzYEvFptZuDjo8ULq3lmCnpyo0fp8R3W_yho7ltpDFC6xiamThgaq62E8QlYKQcsPEFAyHcKDSqFbs94iGr_UipV2lQ/w400-h200/HSG_logo.jpeg" width="400" /></a></div><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Nevertheless, Dr. Furr Stimming stated that it “is really
important for the community to have another drug available.” The INGREZZA
approval will help to build further awareness about HD and “provide hopefully
resources to our patients and families,” she added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dietrich Haubenberger, M.D., the executive medical director
at Neurocrine and clinical lead for the firm on KINECT-HD, stressed the
importance of INGREZZA/valbenazine as a “unique molecule.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">So far researchers have not done a head-to-head study of
Xenazine, Austedo, and INGREZZA.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The scientist-written site <a href="https://en.hdbuzz.net/348" rel="nofollow" target="_blank">HDBuzz</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://en.hdbuzz.net/348" rel="nofollow" target="_blank">
cautioned</a> that, “like all drugs, valbenazine has some downsides. VMAT2
inhibitors have common side effects, like sleepiness. They can also have very
serious side effects which include depression as well as suicidal thoughts or
actions.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The site recommended that “people with HD who are
considering INGREZZA accurately relay their past medical history to their
healthcare provider and alert them as soon as possible if they experience any
side effects.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Success
in reducing chorea</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The FDA approval was based on the favorable results from
KINECT-HD and KINECT-HD2, a related open-label extension trial, still ongoing.
These trials measure the safety and tolerability of INGREZZA and the efficacy
of the drug in alleviating chorea.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">KINECT-HD enrolled 128 adults 18 to 75 years of age in the
U.S. who were diagnosed with motor-manifest HD (had onset of movement disorder)
and who had sufficient chorea symptoms to meet study protocol criteria. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">KINECT-HD2, a three-year study, will enroll more than 150
adults,<span style="mso-spacerun: yes;"> </span>with the same inclusion criteria
as KINECT-HD. Whereas half the volunteers in KINECT-HD got a placebo, in
KINECT-HD2 every participant will receive the drug. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">KINECT-HD had sites in the U.S. and Canada, and KINECT-HD2
is taking place at some of those same sites.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">According to the Neurocrine press release (and also a June
2023 scholarly article reporting on KINECT-HD in <a href="https://pubmed.ncbi.nlm.nih.gov/37210099/" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">Lancet Neurology</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">),
INGREZZA demonstrated a decreased chorea severity three times better than
placebo.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As explained by HDBuzz, in the trial, INGREZZA “improved the
Total Maximal Chorea (TMC) score, a metric clinicians use to monitor chorea
symptoms.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A
“significant gap” in getting people treated with chorea</span></b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With my questions to Dr. Roberts and Dr. Haubenberger on
August 25, I wanted to explore why Neurocrine had not sought a “potentially far
more transformative drug.” With the FDA approval for INGREZZA for chorea, I
also wanted to learn about the company’s plans for developing disease-modifying
therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Roberts, Dr. Haubenberger, and I explored these themes
in greater depth in our interview.</span></p>
<p class="MsoNormal" style="tab-stops: 349.95pt;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Neurocrine, the HSG, and other clinicians, according to Dr.
Roberts, saw a “significant gap” in treating chorea: 90 percent of patients
have chorea, but less than 20 percent were taking either Xenazine or Austedo.
Making INGREZZA available could help fill this unmet need.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Another key factor in favor of INGREZZA was that in the
“clinical trial we saw benefits as early as two weeks,” Dr. Roberts said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The approval of INGREZZA provides Neurocrine with an
opportunity to partner more closely with the HD community – including in the
search for disease-modifying therapies, Dr. Roberts continued. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We're very interested in learning from the community,
including researchers in the area and key opinion leaders and other individuals
about what are the areas of science that we should be doubling down on,” she
said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Just
the start</span></b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">For Neurocrine, a drug approval is not the conclusion but
just the start of a relationship with a community of affected individuals and
their families, Dr. Haubenberger stated. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Moving beyond the clinical trials, the researchers need to
learn “how this translates into the real world,” he explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“This goes back to your first question about symptomatic
versus more transformative, disease-modified,” Dr. Haubenberger said. “I don't
necessarily see there quite an either/or. I think it's about what is important
to patients and their caregivers.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Now the researchers following INGREZZA need “to actually
drill down on the clinical meaningfulness,” for example, by examining what an
improvement in a score signifies in affected persons’ daily lives or how chorea
may be impairing their activities in ways unseen by doctors, he said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">This approach can inform the search for treatments not just
for HD, but other neurological disorders, Dr. Haubenberger said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Next
steps for HD</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Dr. Roberts said that, for business reasons, she cannot
discuss specific biological processes to be examined in the search for HD
disease-modifying therapies. She added that currently there are no plans for
clinical trials.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“I will say that we are interested in a broad range of
different biological processes that could have an impact for patients with HD,
and I think that our research colleagues are working very hard on that right
now,” she said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“I think specifically for HD these are, from a scientific
point of view, exciting times,” Dr. Haubenberger said, noting the advances in
biology as well as the lessons from clinical trial programs with negative
results.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A
focus on neuroscience</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the evolution of the company and the financial success
of INGREZZA, Neurocrine may be well-positioned to research disease-modifying
therapies for HD and other neurological disorders. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">It has been leaving its mark on the biotech world. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://www.statnews.com/" rel="nofollow" target="_blank"><i>STAT News</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> in 2018
<a href="https://www.statnews.com/2018/12/13/worst-biopharma-ceo-2018-nominees/" rel="nofollow" target="_blank">praised Neurocrine</a> for its focus on central nervous system disorders – one of
the toughest nuts to crack in biomedicine – and having an ambitious research
and development budget</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2019, pharma giant <a href="https://www.biogen.com/" rel="nofollow" target="_blank">Biogen</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
contemplated <a href="https://www.statnews.com/2021/12/08/biogen-aduhelm-al-sandrock-michel-vounatsos-company-reckoning/" rel="nofollow" target="_blank">a takeover of Neurocrine,</a> at the time valued at $8 billion</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2020, Neurocrine signed a statement by global biopharma
leaders to <a href="https://www.statnews.com/2020/01/08/new-biotechnology-pharmaceutical-industry-commitment-patients-public/" rel="nofollow" target="_blank">ensure affordable access of medicines</a> for patients</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">That year Neurocrine was represented at an <a href="https://www.sandiego.edu/news/detail.php?_focus=75539" rel="nofollow" target="_blank">exclusive screening</a> of the
film <i>Dancing at the Vatican</i> – about Pope Francis’ historic 2017 audience
with the HD community in Rome – at the University of San Diego</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In a new partnership that could eventually have a key impact
on the search for HD therapies, Neurocrine and <a href="https://www.voyagertherapeutics.com/" rel="nofollow" target="_blank">Voyager Therapeutics</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
– which has focused on HD in the past – formed a strategic collaboration in
January for <a href="https://ir.voyagertherapeutics.com/news-releases/news-release-details/neurocrine-biosciences-and-voyager-therapeutics-enter-strategic" rel="nofollow" target="_blank">developing next-generation gene therapies</a> for neurological diseases
such as Parkinson’s disease</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We're a company that's focused on neuroscience in its
broadest sense,” Dr. Roberts observed. “We have therapeutics in neurology,
psychiatry, neuroendocrinology and the emerging area of neuro immunology, which
may well be very important in the context of disease-modifying and curative
treatments.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A
big applause for the trial participants and caregivers</span></b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">INGREZZA is available now for the HD </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">community. The company has promised to schedule webinars and conduct additional
educational efforts to provide information about the drug and answer questions
and concerns.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">For now, Neurocrine has no plans to seek approval for
INGREZZA for chorea associated with Huntington’s outside the U.S. Participants
in KINECT-HD in Canada will get access to the drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">(Neurocrine has not announced pricing for INGREZZA but noted
that the approval for chorea for HD will not affect the price. Currently,
INGREZZA coverage is approved for more than eight out of ten patients
nationwide regardless of insurance. For information about Neurocrine’s Copay
Savings Card or the INBRACE Support Program, call 1-84-INGREZZA
(1-844-647-3992) 8 AM to 8 PM ET, Monday through Friday or visit the INBRACE
Support Program website:<span style="mso-spacerun: yes;"> </span></span><a href="https://inbracesupportprogram.com/ingrezzapatient/" rel="nofollow" target="_blank"><span style="color: #0563c1; font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">https://inbracesupportprogram.com/ingrezzapatient/</span></a><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">At the conclusion of our interview, Dr. Roberts renewed
Neurocrine’s invitation – the pandemic thwarted an earlier plan – for me to
visit the company’s labs to learn more about the key areas of research. This
will be the focus of a future article.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I echo Dr. Haubenberger’s words at the August 22 meeting
with advocates:</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“The biggest applause needs to be given to all the
participants and their caregivers that tirelessly committed their time, their
commitment to participating in this clinical program.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Disclosure: My travel
expenses were partially covered by the HSG for attendance at its 2019 annual conference.</span></i><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-55294802548008200122023-08-14T12:39:00.003-07:002023-08-14T16:06:02.049-07:00Lessons from the Maui wildfires for human solidarity and the fight against Huntington’s and other diseases<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In late June – vacationing in the balmy Hawaiian town of
Lahaina – my wife Regina and I snorkeled at Pacific Ocean coral reefs teeming
with marvelous aquatic life, dined on succulent seafood, and recharged our
emotional batteries after a <a href="https://curehd.blogspot.com/2023/04/after-another-critical-huntingtons.html" rel="nofollow" target="_blank">difficult first half of 2023</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We had celebrated our 30th wedding anniversary by traveling
to Hawaii for the first time, to the islands of Kona and Oahu, in March 2022. I
had never expected to reach my early 60s healthy: I carry the deadly gene for
Huntington’s disease, which took my mother at 68. Inspired by the <a href="https://curehd.blogspot.com/2022/05/surfing-through-life-with-spirit-of.html" rel="nofollow" target="_blank">spirit of aloha</a>,</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
we returned with our daughter Bianca in July 2022, this time to Lahaina, on the
island of Maui, to celebrate her college graduation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Now, we are alarmed by the massive destruction of Lahaina’s
historic core on August 8 by wildfire, and the impact on the rest of Maui. As
of August 14, 96 people had succumbed to the fire. This was the deadliest
wildfire in the U.S. in over a century, resulting from sweeping long-term
human-led changes to the <a href="https://www.nytimes.com/2023/08/13/us/hawaii-wildfire-factors.html" rel="nofollow" target="_blank">Hawaiian landscape</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
<a href="https://www.nytimes.com/2023/08/10/climate/hawaii-fires-climate-change.html?searchResultPosition=2" rel="nofollow" target="_blank">climate change</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
and seeming <a href="https://www.nytimes.com/2023/08/11/us/hawaii-maui-fires-warning-systems.html?searchResultPosition=7" rel="nofollow" target="_blank">poor preparedness</a> by public officials</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We were heartbroken to learn of the deaths and how the fire
burned down museums, restaurants, and stores that we had visited on Front
Street, the historic main drag dating back to Lahaina’s time as the capital of
the Hawaiian kingdom and whaling center in the 1800s. More than 2,000 buildings
were destroyed or damaged.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We were heartened to see how Hawaiians were coming together,
with help from the mainland, to assist one another and express hopes for
rebuilding.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Such devastation, I believe, is another reminder to strive
for <a href="https://curehd.blogspot.com/2022/12/fightdiseasenotwar.html" rel="nofollow" target="_blank">human solidarity</a>
in the face of global climate change, war, and disease – including devastating
neurodegenerative disorders like HD and Alzheimer’s and the threat of future
pandemics.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi0pnYdJpKAH_1XxEHE6DZCrxfCh9MwwAt7dt9TeK-iWwx4yhNlRxwGWWEThBekmKbW7oEzO1qOBaSQlYc-ILrYlPdhFtsEUjcjuXTeBnMC8N7dxip8z9CgTmKHqChKyq2p7bsSAhD9qxNoN0aFcrOs6wdRSLSqo4r8ElpZzglQ9QunE0tCsl0GCA/s1280/GeneVeritasLahaina2023.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1280" height="300" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi0pnYdJpKAH_1XxEHE6DZCrxfCh9MwwAt7dt9TeK-iWwx4yhNlRxwGWWEThBekmKbW7oEzO1qOBaSQlYc-ILrYlPdhFtsEUjcjuXTeBnMC8N7dxip8z9CgTmKHqChKyq2p7bsSAhD9qxNoN0aFcrOs6wdRSLSqo4r8ElpZzglQ9QunE0tCsl0GCA/w400-h300/GeneVeritasLahaina2023.jpeg" width="400" /></a></div><br /><i>Gene Veritas (aka Kenneth P. Serbin) with
exhibit of whaling equipment at the Lahaina Heritage Museum in the Old Lahaina Courthouse (photo
by Regina Serbin). After the fires, only a <a href="https://www.artnews.com/art-news/news/wildfires-maui-hawaii-destroy-cultural-heritage-sites-1234676951/" rel="nofollow" target="_blank">shell</a> of the building remains.<br /></i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">An
overpowering nature</span></b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the coronavirus pandemic, the war in Ukraine, and the
climate crisis, the history of humanity and the environment may have reached a
<a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">tipping point</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In July, as the world experienced record temperatures,
United Nations Secretary-General António Guterres declared that global warming
has become “global boiling.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The fires at Lahaina and other parts of Maui reminded Regina
and me of the overpowering nature of wildfires in California, which in recent
decades have burned ever more acres, taken lives, and forced evacuations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2003, during the massive, deadly <a href="https://www.sandiego.gov/fire/about/majorfires/2003cedar" rel="nofollow" target="_blank">Cedar Fire</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
we and thousands of other families were forced to leave our homes in our San
Diego residential neighborhood homes; for two long days we wondered whether we
would have a home to return to. We saw flames rising 40 or 50 feet into the air
as we drove off in our vehicles. Several homes in our neighborhood burned down.
Many other neighborhoods also had to evacuate.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Significantly, this fire was not restricted to the
backcountry but reached into the suburban neighborhoods of the city of San
Diego.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In Hawaii, a <a href="https://www.wbur.org/hereandnow/2023/08/14/hawaii-climate-lawsuit-wildfires" rel="nofollow" target="_blank">group of youth are suing</a> the state’s Department
of Transportation over climate change. In another case involving young people, on August 14 <a href="https://www.nytimes.com/2023/08/14/us/montana-youth-climate-ruling.html" rel="nofollow" target="_blank">a Montana judge ruled</a>..that the state's failure to consider climate change when approving fossil fuel projects was unconstitutional.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Regina and I are exploring ways to lessen our impact on the
environment.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Keeping
the momentum on disease research</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">There is no arguing with nature.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With this new reality, as the climate crisis threatens to
deepen, societies could have fewer resources for combating disease because of
the need to prioritize saving the environment.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">There is also no arguing with biology. I have endeavored to
avoid HD onset through building new avenues of enrichment and building <a href="https://curehd.blogspot.com/2021/09/bidding-farewell-to-my-mind-coach-major.html" rel="nofollow" target="_blank">meaning and purpose</a>,
including my new interest in the <a href="https://curehd.blogspot.com/2022/05/surfing-through-life-with-spirit-of.html" rel="nofollow" target="_blank">history and culture of Hawaii</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
– stimulated yet further, though in a tragic sense, with Lahaina’s traumas. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">After our trip to Lahaina, I underwent surgery on my left
hand to repair the damage wrought by another biological reality: arthritis and
tendonitis. The hand had become painful and weak. I wore a cast for a month,
and am now undergoing physical therapy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As with a hip or knee replacement, I am hoping that the
operation will restore full use of my hand for many years, and to enable me to
work, exercise, and carry out daily activities to reinforce my overall health
in the fight against HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Not having to worry about the hand will also provide an
important psychological boost.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Our concerns about the environment come precisely as the
search for cures for neurodegenerative diseases got some good news: for the
first time, the FDA has approved two drugs that have shown efficacy in slowing
the progression of Alzheimer’s (click <a href="https://www.alz.org/alzheimers-dementia/treatments/aducanumab" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
and <a href="https://www.alz.org/alzheimers-dementia/treatments/lecanemab-leqembi" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more). </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We need to have that momentum carry over to HD and other
diseases. After having to step away from advocacy earlier this year, followed by weeks of
inactivity due to my operation, I hope to return to regular reporting of the
quest for HD therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi40WT2GDB74rOnvTyIDJ5u-8TQzm9fO2iYTcC76BR_fGQNCbLuTHuREQVJlIIIEmrkuZ4v6Lyda3LGQUNJs91EXbecTbZkLvPScAdv0b4icBDgr-2GcquBt4hUKhucTajvx3dy1OCkBdX6V0ObAGQQq6twD_t8wpmmdNQzVsuK8Ni-aMh9Tiy9Ww/s1280/GeneVeritasHandSurgery2023.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1280" height="300" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi40WT2GDB74rOnvTyIDJ5u-8TQzm9fO2iYTcC76BR_fGQNCbLuTHuREQVJlIIIEmrkuZ4v6Lyda3LGQUNJs91EXbecTbZkLvPScAdv0b4icBDgr-2GcquBt4hUKhucTajvx3dy1OCkBdX6V0ObAGQQq6twD_t8wpmmdNQzVsuK8Ni-aMh9Tiy9Ww/w400-h300/GeneVeritasHandSurgery2023.jpeg" width="400" /></a></div><br /><i>Gene Veritas recovering from hand surgery (photo by Regina Serbin)<br /></i><p></p>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-81771070846839726882023-04-28T22:37:00.001-07:002023-04-28T23:34:35.991-07:00After another critical Huntington’s disease clinical trial proves negative, a time to embrace self-care and caregiving<p> </p><p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">A long-awaited clinical trial of a drug aimed at <a href="https://curehd.blogspot.com/2022/08/after-other-firms-setbacks-prilenia.html" rel="nofollow" target="_blank">improving daily function</a> </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
in the early stages of Huntington’s disease has produced negative results,
Prilenia Therapeutics <a href="https://www.prilenia.com/prilenia-shares-preliminary-top-line-results-from-phase3-proof-hd-clinical-trial" rel="nofollow" target="_blank">announced</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
on April 25 at the American Academy of Neurology meeting in Boston.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">According to Prilenia, the drug, pridopidine, failed to show
improvement for trial participants on its primary and secondary measurements of
symptoms (endpoints).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">"Unfortunately, the failure of the PROOF-HD trial to
meet its primary endpoint in preliminary analyses is a huge disappointment for
the HD community,” Jody Corey-Bloom, M.D., Ph.D., the director of the
Huntington’s Disease Society America (HDSA) <a href="https://neurosciences.ucsd.edu/centers-programs/huntingtons-disease/index.html" rel="nofollow" target="_blank">Center of Excellence</a> in San Diego,
wrote me in an e-mail on April 25. “There was, however, some suggestion of
benefit on other clinical measures, particularly a computerized assessment of
motor function [a person’s movements], and I suspect we will see additional
detailed analyses in the coming months.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“We won’t sugar-coat this: <i style="mso-bidi-font-style: normal;">the trial results were unfortunately negative</i>,” the HD science site
HDBuzz</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> <a href="https://en.hdbuzz.net/342" rel="nofollow" target="_blank">concluded</a>.
“The drug did not slow progression of HD as measured by the TFC [Total
Functional Capacity]. Failing to meet its primary endpoint means that
pridopidine will not get licensed by the FDA and other regulatory agencies.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“The data obtained as part of the study remain useful and
will be analyzed further for new insights they can provide,” <a href="https://www.hennepinhealthcare.org/provider/martha-nance-md/" rel="nofollow" target="_blank">Martha Nance, M.D.</a>, the
HDSA Center of Excellence director in Minneapolis, wrote me. “We will not stop
looking for better answers.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Seeking a disease-modifying therapy</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As an HD gene carrier who will inevitably develop symptoms,
I </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">had
hoped to take pridopidine – if prescribed by a doctor – to help prevent or slow
disease onset and maintain my daily activities. At 63, I have reached far
beyond my HD-stricken mother’s onset in her late 40s. She died at 68.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Pridopidine would have been the <i>first</i> drug to potentially
affect the progression of HD. Also, unlike drugs in other key trials that
require spinal injection or direct injection into the brain (requiring an
operation), pridopidine is a pill.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The news about pridopidine is the latest in a series of
disappointing clinical trial news over the past two years. Last October, the
highly innovative Triplet Therapeutics, Inc., <a href="https://curehd.blogspot.com/2022/10/after-abrupt-shutdown-of-triplet.html" rel="nofollow" target="_blank">had to shut down</a> because of
investor nervousness about the HD field</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
In December, <a href="https://www.novartis.com/us-en/" rel="nofollow" target="_blank">Novartis</a> had to end a
program of developing its own pill for HD, branaplam, because of <a href="https://en.hdbuzz.net/338" rel="nofollow" target="_blank">serious side effects</a>
in volunteers in a clinical trial</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">PROOF-HD was a definitive Phase 3 trial. There are no other
Phase 3 HD trials in progress for disease-modifying therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Researchers remain hopeful that they will ultimately develop
effective therapies. In January, Roche announced the start of <a href="https://hdsa.org/wp-content/uploads/2023/01/Roche-Genentech-Global-HD-Community-Letter-January-2023.pdf" rel="nofollow" target="_blank">GENERATION HD2</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
a second, <a href="https://curehd.blogspot.com/2022/09/roche-confirms-second-more-focused.html" rel="nofollow" target="_blank">less ambitious clinical trial</a> of its gene-silencing drug tominersen</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
Other trials are in progress. This week, scientists and drug hunters focused on
the cutting-edge developments at the 18th Annual HD Therapeutics Conference in
Dubrovnik, Croatia (<a href="https://en.hdbuzz.net/345" rel="nofollow" target="_blank">click here</a> to read more).</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh31zbK4TpxAQuHe4Z32Jds0RiFp8jQ0VTHB0rt8HUfuMyZp4UmRvJCec0vmnc2y_fQvciTjNoDL5dBOEDv0rQ7rLgluif5_ZUP1PxxgzftWLqd4t9xmWPG16BNWxSg8Jp3jxQ0dGHMBJE2M_bk-SuZLO6_4ETZ6riFf_Mf7CPDKX24cwOuOFI/s1092/2023-04-28-Michael_Hayden_CHDI%20(1).jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="589" data-original-width="1092" height="216" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh31zbK4TpxAQuHe4Z32Jds0RiFp8jQ0VTHB0rt8HUfuMyZp4UmRvJCec0vmnc2y_fQvciTjNoDL5dBOEDv0rQ7rLgluif5_ZUP1PxxgzftWLqd4t9xmWPG16BNWxSg8Jp3jxQ0dGHMBJE2M_bk-SuZLO6_4ETZ6riFf_Mf7CPDKX24cwOuOFI/w400-h216/2023-04-28-Michael_Hayden_CHDI%20(1).jpeg" width="400" /></a></div><br /><i>Prilenia CEO and founder Michael Hayden, M.D., Ph.D., reporting the negative results for improvement in Total Functional Capacity in PROOF-HD participants at the HD Therapeutics Conference, April 27, 2023 (photo from HDBuzz)<br /></i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Stepping
back from advocacy</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the rest of the HD community, I have been riding the
<a href="https://curehd.blogspot.com/2020/03/chdi-head-scientist-pacifici-hang-on-in_2.html" rel="nofollow" target="_blank">“clinical trial roller coaster”</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of emotional ups and downs in the quest for therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I am also acutely aware of the passage of time – and that I
may never get to participate in a clinical trial. GENERATION HD2, for example, restricts
participation to ages 25-50. In the 30 years since the discovery of the
huntingtin gene, we still have not seen a therapy to slow, stop, or reverse the
disease. This month marks 25 years of my work as an HDSA volunteer advocate.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Recently, due to unforeseen circumstances unrelated to HD, I
have had to step back from my advocacy, including this blog. My current
challenges come on top of the juggling act that has characterized my fight
against HD since my mother’s diagnosis in 1995 and positive test for the
mutation in 1999.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">So I have struggled to maintain my sense of meaning and
purpose – <a href="https://curehd.blogspot.com/2021/09/bidding-farewell-to-my-mind-coach-major.html" rel="nofollow" target="_blank">crucial in slowing cognitive decline</a> in HD</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.<span style="mso-spacerun: yes;"> </span></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I
have thus felt the need to concentrate on self-care. I believe there is wisdom
in recognizing the importance of self-care – especially for someone like me
facing a challenge for which science has yet to find an answer.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I have
learned, my first obligation is to my own health </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">– remaining
symptom-free and therefore fully available for my family, friends, and others I
love and care for.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In this blog I have aimed for transparency about my health.
For my own and the community’s benefit, I have sought to report accurately and
thoughtfully on the quest for therapies, the endeavor to provide better care,
and the many ramifications of HD (<a href="https://content.iospress.com/articles/journal-of-huntingtons-disease/jhd220551" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Prioritizing
diet, sleep, and exercise</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">So, as an advocate striving to be the best version of
himself, I want</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to embrace self-care.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Last August and September, though fully vaccinated and
having masked except for meals, I fought off an infection of COVID-19 caught in
Boston while attending <a href="https://curehd.blogspot.com/2022/08/after-other-firms-setbacks-prilenia.html" rel="nofollow" target="_blank">HD2022: Milton Wexler Biennial Symposium</a>, sponsored by
the HD-focused Hereditary Disease Foundation.
I have been deeply concerned about COVID-19 because of the many instances of
long COVID, the disease’s neurological symptoms, and the devastating impact on
people in their 60s and older.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The pandemic has highlighted the need for self-care and
caregiving.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">To continue HD-free, I must prioritize the triad of a
healthy diet, adequate sleep, and regular, vigorous exercise</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">. I tell myself about <a href="https://curehd.blogspot.com/2010/08/my-friend-fast-lane.html" rel="nofollow" target="_blank">swimming</a>: in terms
of health, “this is the most important thing you can do today.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Recently, after </span><span style="font-family: "Times New Roman",serif;">challenges replacing m</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">y
retired psychotherapist of 24 years, I began working with a new therapist – a
profound form of self-care.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Self-care for me also includes continued participation in
<a href="https://www.enroll-hd.org/" rel="nofollow" target="_blank">Enroll-HD</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> and other
HD research studies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEij71kkA6_ViNNXPwJO8nzG_xyuTJaA3rpGwcQUstzGwjwI05zrogHJmTOXddTjduhsaaWjjhw40utvBXrPPIQ3ME61bPphfIQp14grnO6qEf-af7MyQu5Jc025tXF5Aa9tmWw12-uJhVcd9kvwy93xsCeaS2K5KODzB8B8jDS6MmsBtJKxH3o/s1280/Gene-Veritas-Swimming_2010.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="804" data-original-width="1280" height="251" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEij71kkA6_ViNNXPwJO8nzG_xyuTJaA3rpGwcQUstzGwjwI05zrogHJmTOXddTjduhsaaWjjhw40utvBXrPPIQ3ME61bPphfIQp14grnO6qEf-af7MyQu5Jc025tXF5Aa9tmWw12-uJhVcd9kvwy93xsCeaS2K5KODzB8B8jDS6MmsBtJKxH3o/w400-h251/Gene-Veritas-Swimming_2010.jpeg" width="400" /></a></div><p> <i>Gene Veritas (aka Kenneth P. Serbin) swimming in his backyard pool (family photo)</i><br /></p><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Addressing deficits in care and
caregiving</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the negative results from PROOF-HD and other recent
trials, I am reminded of the debate and tensions over “care versus cure” that I
witnessed at the start of my HDSA advocacy in the late 1990s and early 2000s. We
need both. I saw my mother’s desperate need for care as HD devastated her<i> and
</i>fought with fellow advocates to support the search for a cure.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As I age, and with the continued lack of effective
therapies, the likelihood that I will <i>not</i> take a disease-modifying drug
increases – as does, therefore, the likelihood that I will need caregivers. For
HD gene carriers like me, improvements in caregiving will become essential.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As one key study has shown, <a href="https://huntingtonstudygroup.org/hd-insights/vol23_jackgriffin-1/" rel="nofollow" target="_blank">serious deficits HD in care and caregiving</a> remain, and plans for addressing this issue remain aspirational</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Most HD funding goes to biomedical research. Greater resources for HDSA
and other patient advocacy organizations could help address the care and caregiving
shortfalls.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Being
patient and gentle with human fragility</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Upon entering this world, we are all subject to illness,
both genetic and non-genetic. The fight against HD, COVID-19, and other
illnesses highlights our human fragility.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We are <i>all</i> potential caregivers and recipients of
care, at various times in our lives.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I have found heart in the words of Pope Francis during his
historic May 2017 <a href="https://curehd.blogspot.com/2017/05/pope-francis-declares-huntingtons.html" rel="nofollow" target="_blank">audience</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://curehd.blogspot.com/2017/05/pope-francis-declares-huntingtons.html" rel="nofollow" target="_blank">
with the HD community</a> at the Vatican, which I </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">attended with my family: “Fragility
is not an ill, and disease, which is an expression of fragility, cannot and
must not make us forget that in the eyes of God we are priceless. Disease can
also be an opportunity for encounter, for sharing, for solidarity.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As I patiently and gently await the recharging of my mental
and spiritual batteries, I am mindful of my own – and others’ – fragility and
the new opportunities for solidarity in achieving research progress and improved
caregiving.</span></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-11504249731683650262022-12-25T07:03:00.001-08:002022-12-27T17:42:25.407-08:00#FightDiseaseNotWar<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This
holiday season – with the Ukraine conflict having raised fears of a World War
III and hundreds of millions of people still
lacking cures for neurological disorders, cancer, and thousands of other
maladies – it’s time for people and their leaders everywhere to embrace a new global
ethic: #FightDiseaseNotWar.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With the
U.S. sadly far <a href="https://www.pgpf.org/chart-archive/0053_defense-comparison" rel="nofollow" target="_blank">in the lead</a>,
nations spend trillions annually on their armed forces. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A
Huntington’s disease gene expansion carrier who lost his mother to this
devastating disease, I continue to watch HD brothers and sisters face enormous
hurdles in their care – and die.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Once
again, Congress has failed to take action to ensure that families affected by
Huntington’s disease
(HD), a devastating brain disorder that impacts more than 200,000 American
families, have uninterrupted healthcare coverage,” Huntington’s Disease Society
of America CEO Louise Vetter wrote in a December 20 <a href="https://hdsa.org/news/hdsa-community-statement-fy23-omnibus-appropriations-package-fails-hd-families/" rel="nofollow" target="_blank">community statement</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As Vetter
pointed out, the Fiscal Year 2023 federal spending bill, just approved by the
Senate and the House, “does not include provisions of the Huntington’s Disease
Parity Act (S. 868, H.R. 2050) which would eliminate the two-year waiting
period for Medicare coverage and Social Security Disability Insurance (SSDI)
benefits for those who qualify for federal disability because of the serious
progression of their Huntington’s disease.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">‘Relative
pennies on the national budget’</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Vetter
asserted that, despite twelve years of advocating for the <a href="https://curehd.blogspot.com/2011/05/sos-for-huntingtons-disease-families.html" rel="nofollow" target="_blank">HD Parity Act</a>,
“families affected by HD will continue to have to brace themselves for two
years without medical care in a system that puts their needs at the bottom of
the congressional priority list. Two years is too long for someone disabled by
their incurable neurological disease to suffer without medical coverage, and
Congress could close this loophole for relative pennies on the national budget.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In Fiscal
Year 2021, national defense outlays comprised almost half – <a href="https://www.cbo.gov/publication/58269" rel="nofollow" target="_blank">$742 billion</a> – of
the $1.6 trillion discretionary federal budget.
Health spending accounted for $140 billion.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
National Institutes of Health (NIH) – a major source of disease research – had a
budget of $47 billion in Fiscal Year 2021. Its budget has showed a steady <a href="https://sgp.fas.org/crs/misc/R43341.pdf" rel="nofollow" target="_blank">relative decline</a> since 2003</span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">It can
take up to $1 billion for a biopharma company to research, test, and market a single
successful drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A new
vision</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">#FightDiseaseNotWar:
let’s dramatically shift our budgetary – and societal – focus by shifting more
funds to the NIH, our health-related research universities, and other
institutions focused on well-being.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
coronavirus pandemic has laid bare the deep, continuing inequalities,
inconsistencies, and confounding nature of the U.S. health system</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;">#FightDiseaseNotWar: let’s overhaul that system
by creating a public, <a href="https://www.newyorker.com/magazine/2021/08/30/costa-ricans-live-longer-than-we-do-whats-the-secret" rel="nofollow" target="_blank">community-based network</a> available to all and – instead of being driven by bureaucracy and profit –
responsive to patient needs first.</span>
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{page:WordSection1;}</style> <br /></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-23978154817846400102022-12-16T12:17:00.000-08:002022-12-16T12:17:27.618-08:00In ‘Journal of Huntington’s Disease,’ my article analyzes record of my ‘realistic and unapologetic’ blog<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Today the <i style="mso-bidi-font-style: normal;">Journal of
Huntington’s Disease</i> (JHD) published my article “Striving for a Realistic
and Unapologetic View of Huntington’s Disease,” which describes how this blog
has helped give voice to the HD community since 2005.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In
addition to the 322 articles of this blog, I have </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">written about</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
HD </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">in</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
<a href="https://ehdn.org/wp-content/uploads/2016/09/07-ehdn-newsletter-sept2009.pdf" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">EHDN News</i></a>, <a href="https://www.chronicle.com/article/racing-against-the-genetic-clock/" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">The Chronicle of Higher Education</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
<a href="https://www.huffpost.com/entry/huntingtons-disease_b_7472784" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">Huffington Post</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">,
and collections of essays produced by HD advocates.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">My JHD article is my first for a peer-reviewed scholarly
journal – a key in my quest to inform the HD community</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> and deepen my exploration of the
history of the HD cause.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The
JHD, a</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> scientific journal started in 2012,
focuses on research, with occasional articles by advocates. </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">M</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">y
article is a “Perspective” piece.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As I report in the JHD, a fellow HD gene expansion carrier
viewed my blog as exposing families’ difficult struggles with HD in a
“realistic and unapologetic way.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">My blog “has explored major challenges for the HD community,
has become a key reference for HD families, and has chronicled the quest to
defeat the disease,” the JHD abstract states.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In
the article, I</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> analyze the blog’s thematic impact,
featuring a table noting the dozens of HD-related topics covered in 314
articles produced by April 2022, including advocacy and awareness-building,
clinical trials, genetic testing, and coping strategies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The publication of the article also “marks the extraordinary
feat of an HD gene expansion carrier continuing to blog in his 60s.” In
January, the blog will enter its 19th year.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<span style="font-family: "Times New Roman",serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">Please <a href="https://content.iospress.com/articles/journal-of-huntingtons-disease/jhd220551" rel="nofollow" target="_blank">click here</a>
to view the open access article, including a downloadable PDF.</span>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-13849858994682866492022-11-10T20:07:00.001-08:002022-11-10T22:57:20.716-08:00Ten years out of the terrible and lonely Huntington’s disease closet, as new research and investments offer hope for treatments<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Ten years ago this month, I exited the <a href="https://curehd.blogspot.com/2013/11/one-year-out-of-terrible-lonely.html" rel="nofollow" target="_blank">“terrible and lonely Huntington’s disease closet”</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
by publishing an essay on my plight and advocacy as an HD gene carrier in <a href="https://www.chronicle.com/article/racing-against-the-genetic-clock/" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">The Chronicle of Higher Education</i></a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Fortunately, <a href="https://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">asymptomatic as I near 63</a>,
I continue to teach, research the <a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">history of the HD cause</a>, and
enjoy family milestones such as my gene-negative daughter Bianca’s graduation
from college and my wife Regina’s and my 30th anniversary celebration – <a href="https://curehd.blogspot.com/2022/05/surfing-through-life-with-spirit-of.html" rel="nofollow" target="_blank">events</a>
that I feared HD would prevent me from appreciating</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">As we approach Thanksgiving, my favorite holiday, I feel a
profound gratitude to my family, friends, and colleagues at work and in the HD
cause.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">So I want to reflect on my journey since exiting the closet.
I also want to report on new paths of research that could offer hope for what
we in the HD community (and beyond) desperately await: effective therapies
(treatments).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Becoming
a more effective – and convincing – advocate</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I <a href="https://curehd.blogspot.com/2005/01/huntingtons-disease-early-date-with.html" rel="nofollow" target="_blank">started this blog</a> in January 2005 under the pseudonym Gene
Veritas.
Having told my family’s story using my real name (Kenneth P. Serbin) in a
widely read publication has enabled me to become a more effective – and
convincing – advocate. I could now speak with full transparency about HD,
provide an example for others still hiding in the closet, and build new
partners in the fight to raise awareness and funds.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Before exiting the closet, I was sheepish about fundraising
and other aspects of my advocacy, restricting my efforts to relatives and close
friends who knew about my family’s struggles. After my exit, I became <a href="https://curehd.blogspot.com/2016/04/from-sheepish-to-self-assured-in-fight.html" rel="nofollow" target="_blank">more
self-assured</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In 2013, the <a href="https://curehd.blogspot.com/2013/04/feeling-hope.html" rel="nofollow" target="_blank">Serbin Family Team</a> in the annual Hope Walk of
the Huntington’s Disease Society of America (HDSA) became the top fundraiser
nationwide, taking in more than $16,000 in donations from dozens of generous
supporters</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Collaborating
with work colleagues</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I most feared the consequences of revealing my story at my
workplace, the University of San Diego (USD), because of concerns about discrimination.
I knew HD gene carriers had been fired by their employers. My USD colleagues were shocked by my revelation. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">However, those colleagues ultimately showed great
solidarity. By advocating about HD at work, I attracted new allies, boosted
awareness, and served as a bridge to resources for those facing HD (<a href="https://curehd.blogspot.com/2017/10/advocacy-in-workplace-raising-awareness.html" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
to read more). </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">My advocacy reached a milestone in May 2017, when I traveled
with my family to Rome to help represent the U.S. HD community at HDdennomore:
Pope Francis’ Special Audience with the Huntington’s Disease Community in
Solidarity with South America. My trip was sponsored by several USD units,
including the Frances G. Harpst Center for Catholic Thought and Culture,
directed by <a href="https://www.fst.edu/about/faculty-and-staff/jeffrey-burns-phd/" rel="nofollow" target="_blank">Jeffrey Burns, Ph.D</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
Later that year, the center hosted a <a href="https://vimeo.com/238306272" rel="nofollow" target="_blank">talk by me</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
exploring the social, scientific, and religious meaning of this extraordinary
the papal event.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Francis became the first world leader to recognize HD,
declaring that it should be “hidden no more.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgAmvp2ZBtz-t0rbx_jcoq6Dml9eZOnYFjBM8TkNDKfByNExPftZMR9FSL-ZuCIFLxYrDVeTswoYmHm5zxkQRf6ltwn2RK5PiyFljSvDSOfaG_IqCd_hbDi4eJY5gZ2YrX6Ie1TpqYb_Jm_99Ksw8UK85uSsoHQo1cBIPByNVpv6j-KegITZh8/s1280/GeneVeritasBusinessCard.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="748" data-original-width="1280" height="234" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgAmvp2ZBtz-t0rbx_jcoq6Dml9eZOnYFjBM8TkNDKfByNExPftZMR9FSL-ZuCIFLxYrDVeTswoYmHm5zxkQRf6ltwn2RK5PiyFljSvDSOfaG_IqCd_hbDi4eJY5gZ2YrX6Ie1TpqYb_Jm_99Ksw8UK85uSsoHQo1cBIPByNVpv6j-KegITZh8/w400-h234/GeneVeritasBusinessCard.jpeg" width="400" /></a></div><p> </p><p><i>Business card of Kenneth P. Serbin (aka Gene Veritas) shared at scientific conferences and with anyone interested in learning about the HD cause (photo by Gene Veritas)</i></p><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In early 2020, before the coronavirus pandemic exploded in
the U.S., Dr. Burns and I collaborated in a <a href="https://www.sandiego.edu/news/detail.php?_focus=75539" rel="nofollow" target="_blank">screening at USD</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of the short documentary <a href="https://www.dancingatthevatican.com/" rel="nofollow" target="_blank"><i style="mso-bidi-font-style: normal;">Dancing at the
Vatican</i></a>, which features
HDdennomore. In late 2020 I helped <a href="https://curehd.blogspot.com/2020/11/after-horrid-year-free-streaming-of.html" rel="nofollow" target="_blank">promote</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><a href="https://curehd.blogspot.com/2020/11/after-horrid-year-free-streaming-of.html" rel="nofollow" target="_blank">
the launch</a> of the film online.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">This year, I fulfilled one of the long-term goals outlined
in my 2012 coming-out essay: shifting my academic focus from my beloved Brazil
to the history of the quest for HD therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With support from USD and The Griffin Foundation, I
submitted the project for funding to the <a href="https://www.nsf.gov/" rel="nofollow" target="_blank">National Science Foundation</a>. Although I was not granted funding initially, the
foundation’s program officers encouraged me to reapply.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">PTC’s
helpful infusion of new capital</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">We all anxiously await effective therapies. Over the past
ten years, I have increased my attention to the intensification of the efforts
by labs and biopharma companies to achieve success.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The last several years of such efforts have felt like an
<a href="https://curehd.blogspot.com/2020/03/chdi-head-scientist-pacifici-hang-on-in_2.html" rel="nofollow" target="_blank">emotional roller coaster</a> for the HD community, though that’s not unusual for a
difficult endeavor like drug development, which involves both positive and
negative clinical trial results and cumulative learning</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Last month, I <a href="https://curehd.blogspot.com/2022/10/after-abrupt-shutdown-of-triplet.html" rel="nofollow" target="_blank">reported</a> on</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
the abrupt shutdown of the firm Triplet Therapeutics, Inc., which had explored
a much-awaited proposed therapy. I also noted that the U.S. Food and Drug
Administration (FDA) had requested that <a href="https://ir.ptcbio.com/" rel="nofollow" target="_blank">PTC Therapeutics, Inc.</a>, provide further information before allowing a
clinical trial of its HD drug, PTC518.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">But there was also potential good news.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Despite the FDA-imposed delay in a U.S. trial, PTC has
reached a financing deal with the investment firm <a href="https://www.blackstone.com/" rel="nofollow" target="_blank">Blackstone</a>, based on PTC’s plans to expand its drug pipelines
to other diseases. The deal, which in the best-case scenario could infuse $1
billion of investment, puts “PTC in a strong position to continue to execute
our mission,” Emily Hill, PTC’s chief financial officer, stated in an October
27 <a href="https://www.blackstone.com/news/press/ptc-therapeutics-announces-strategic-financing-collaborationwith-blackstone-with-up-to-1-billion-in-funding/" rel="nofollow" target="_blank">press release</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">PTC518, a so-called splicing molecule, is also classified as
a small molecule drug. It is thus taken as a pill – in contrast with riskier,
less convenient delivery methods used by other HD programs, which include brain
surgery and spinal injections. Early next year, PTC will furnish an <a href="https://en.hdbuzz.net/336" rel="nofollow" target="_blank">update</a> on
the PTC518 trial</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">. The trial
continues in several European countries and Australia.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Roche
diversifies its approach</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In March 2021, <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a> reported
disappointing news: its gene silencing drug tominersen (an antisense
oligonucleotide, or ASO) <a href="https://curehd.blogspot.com/2021/04/roche-confirms-tominersen-as.html" rel="nofollow" target="_blank">failed to improve symptoms</a> in volunteers in the firm’s
GENERATION HD1 Phase 3 (large-scale testing of effectiveness and safety) trial</span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">.
This September, Roche announced GENERATION HD2, a less ambitious, Phase 2
(effectiveness, dosage, and safety) retesting of tominersen to start in early
2023.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">In its <a href="https://bit.ly/3Tco0zb" rel="nofollow" target="_blank">presentation</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
of GENERATION HD2 at the annual <a href="https://huntingtonstudygroup.org/" rel="nofollow" target="_blank">Huntington Study Group</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
annual meeting in Tampa, FL, on November 3, Roche revealed that it has expanded
its pursuit of HD therapies by embarking on two preclinical (nonhuman)
projects.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Whereas tominersen targeted both the normal and abnormal
(expanded) huntingtin gene, Roche will now seek to develop a drug that aims at
just the abnormal gene. (<a href="https://wavelifesciences.com/" rel="nofollow" target="_blank">Wave Life Sciences</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
already reported in September that it had successfully <a href="https://en.hdbuzz.net/335" rel="nofollow" target="_blank">targeted the abnormal gene</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
in an early stage clinical trial, although yet without evidence of impacting
symptoms.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Like PTC’s program, Roche’s second preclinical program will
aim at developing a splice modifier that would be taken orally.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“The medical need in the HD community is clear and we
recognize that a range of different therapeutic approaches are likely to be
required,” Mai-Lise Nguyen, of Roche’s Global Patient Partnership, Rare
Diseases, wrote me in a November 3 e-mail.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiZOyjJ-i4tHN3wT5LpjWCrccvOhSyFNkzA6lb9KTwUx_zxKTFgV_HHpxgFiwlExM4URIW36fp6QSXoB9ZaHOlj_9R_NcbxpObaBH4AE_CZDpD61XFtU0F_zAspO6_EBye9FsjIqA9mVa7eUHtLbNiwv2UcOAUaSN5FLJb4X1jHrwOeiW2SJ7E/s1280/RocheSlide14_HSG2022.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="800" data-original-width="1280" height="250" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiZOyjJ-i4tHN3wT5LpjWCrccvOhSyFNkzA6lb9KTwUx_zxKTFgV_HHpxgFiwlExM4URIW36fp6QSXoB9ZaHOlj_9R_NcbxpObaBH4AE_CZDpD61XFtU0F_zAspO6_EBye9FsjIqA9mVa7eUHtLbNiwv2UcOAUaSN5FLJb4X1jHrwOeiW2SJ7E/w400-h250/RocheSlide14_HSG2022.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"><i>A slide from the Roche presentation at the 2022 Huntington Study Group meeting illustrating the firm's three approaches to attacking Huntington's disease (slide courtesy of Roche)</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Another
ten years?</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">After the major disappointment in the shutdown of Triplet, I
was heartened to learn of Blackstone’s massive investment in PTC, which
indicates that both firms see PTC’s potential treatments as viable and
profitable.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">I was also encouraged to see how Roche, in the words of its
Huntington Study Group presentation (see photo below), has augmented its HD
research portfolio, reflecting a “commitment to advance scientific
understanding and drug development in HD through continued collaborations” with
HD organizations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">With the ingenuity of HD scientists and the dedication of HD
family members to participation in research, the march towards potential
therapies continues. I hope to chronicle continuing progress over the coming
years not only free of the “HD closet,” but, thanks to new therapies, free of
significant HD impacts, as well.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjnbTbcFK2XN_BllLgkgZOdZysFEso4sfkg4TRtdevMDyWQfTqt2j22nxnVzvvV1bTE8fqgfaC8WfWvDTEQNvhNd2q08taPpRTGVvMtphxpM5sVdTP24B5_KcUUzwNfgxvllCaebr811cvlcobTsq1Fhh5egbmNzsD1npoc84ywldTeR8w1xqI/s1280/RocheSlide15_HSG2022.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="800" data-original-width="1280" height="250" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjnbTbcFK2XN_BllLgkgZOdZysFEso4sfkg4TRtdevMDyWQfTqt2j22nxnVzvvV1bTE8fqgfaC8WfWvDTEQNvhNd2q08taPpRTGVvMtphxpM5sVdTP24B5_KcUUzwNfgxvllCaebr811cvlcobTsq1Fhh5egbmNzsD1npoc84ywldTeR8w1xqI/w400-h250/RocheSlide15_HSG2022.jpeg" width="400" /></a></div><br /><i>A slide from the Roche presentation demonstrating the commitment and collaborations involved in the quest for HD therapies (slide courtesy of Roche)</i><br /><p></p>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-45404574801282045132022-10-21T17:15:00.010-07:002022-10-21T22:09:45.276-07:00After abrupt shutdown of Triplet Therapeutics, Huntington’s disease community regroups in the fight for therapies<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet
Therapeutics, Inc., a Cambridge, MA-based start-up that aimed to <a href="https://curehd.blogspot.com/2020/10/triplet-therapeutics-aims-to-transform.html" rel="nofollow" target="_blank">transform the treatment</a> of Huntington’s disease and related disorders,
has <a href="https://www.statnews.com/2022/10/12/triplet-therapeutics-biotech-company-focused-on-huntingtons-quietly-shuts-down/" rel="nofollow" target="_blank">shut down</a>,</span><span style="font-family: "Times New Roman",serif;"> citing a lack of new investment
partners and the discovery that its proposed HD drug caused adverse effects in
animal tests.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On October
11, Triplet CEO Nessan Bermingham announced the company’s closure on his
<a href="https://www.linkedin.com/in/nessan-bermingham-b1254621b" rel="nofollow" target="_blank">LinkedIn page</a></span><span style="font-family: "Times New Roman",serif;">. The abrupt closure was another
piece of tough news regarding potential therapies for HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In March
2021, <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a> and <a href="https://wavelifesciences.com/" rel="nofollow" target="_blank">Wave</a> reported <a href="https://curehd.blogspot.com/2021/04/overcoming-heartbreaking-moment-for.html" rel="nofollow" target="_blank">negative trial results</a></span><span style="font-family: "Times New Roman",serif;"> for drugs aimed at reducing the
toxic mutant huntingtin protein in patients’ brains. These drugs are antisense
oligonucleotides (ASO), a synthetic modified single strand of DNA that can
alter production of certain proteins.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Triplet’s
strategy</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet
had designed its own ASO, but with a different strategy: to stop the
deleterious expansion of the mutant huntingtin gene (<a href="https://curehd.blogspot.com/2021/04/roche-confirms-tominersen-as.html" rel="nofollow" target="_blank">click here</a> to read more). Known
as somatic expansion, this process drives the disease and can hasten the onset
of symptoms. By slowing this expansion, Triplet had hoped that its drug would head
off the disease early.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet
scientists and others have viewed this approach as a more effective alternative
to the “huntingtin lowering” strategy devised by Wave, Roche, and others. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Capitalizing
on recent groundbreaking HD genetics research, Triplet, founded in late 2018,
developed the only clinical trial program to slow or stop somatic expansion in
HD. Triplet also had hoped to develop treatments for others among the 50 rare
conditions with somatic expansion, which, like HD, are called repeat expansion
disorders.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEir8IBwCk2N5RJMR1_Qbtrqb9uqcSXgF63v-CwnUeH4RDX3wW6KPE3ZPMOCqJiJOySqPt1kT2XJIpSM3bGXnpJv8QEFVogtIVNyi4cS9jRai7ybyYtPm7eGV9GNyfVS-kiLKL3ZUPxpffCMuC81eIbqdiDuZRN-pqfFE_OosHTuIP26gng3c2U/s2048/Bettencourt-CHDI-2020.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1045" data-original-width="2048" height="204" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEir8IBwCk2N5RJMR1_Qbtrqb9uqcSXgF63v-CwnUeH4RDX3wW6KPE3ZPMOCqJiJOySqPt1kT2XJIpSM3bGXnpJv8QEFVogtIVNyi4cS9jRai7ybyYtPm7eGV9GNyfVS-kiLKL3ZUPxpffCMuC81eIbqdiDuZRN-pqfFE_OosHTuIP26gng3c2U/w400-h204/Bettencourt-CHDI-2020.jpg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Brian Bettencourt, Ph.D., Triplet's former senior vice president for research, explains a slide illustrating the firm's pathway to a potential HD drug at the 15th Annual HD Therapeutics Conference, 2020 (photo by Gene Veritas, aka Kenneth P. Serbin).</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“It is
with great sadness we announce the closure of Triplet Therapeutics,” Bermingham
wrote on LinkedIn.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
“underlying science of targeting repeat expansion disorders” remains “a viable
approach from our vantage point,” Bermingham wrote. However, crucially, in
animal studies, the data from Triplet’s HD drug “reflected prior experiences”
with ASO toxicity in the central nervous system – a reference to the Roche and
Wave results.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Specifically,
the ASO showed signs of harming neurons (brain cells). “As a therapeutic
modality, given Roche’s data, our data, lack of efficacy from Wave products,
our belief is that neurons may be particularly sensitive to antisense
oligonucleotides,” Bermingham told <a href="https://www.statnews.com/2022/10/12/triplet-therapeutics-biotech-company-focused-on-huntingtons-quietly-shuts-down/" rel="nofollow" target="_blank">STAT</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet
secured $59 million in initial financing and investment. After the bad news in
2021 from Roche and Wave, Triplet struggled to raise the money needed for its
planned next step: an early phase clinical trial of its ASO. “The clinical data
really put a chill on the overall interest or risk perceived within
Huntington’s disease,” Bermingham noted.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">SHIELD HD
continues to provide key data</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">To provide
data about the disease for the clinical trial it was planning, Triplet has run
a separate, two-year study, without a drug, of approximately 70 presymptomatic and
early-disease-stage carriers of the HD mutation. Called <a href="https://clinicaltrials.gov/ct2/show/NCT04406636?draw=2" rel="nofollow" target="_blank">SHIELD HD</a></span><span style="font-family: "Times New Roman",serif;">, the study involves cognitive
testing, brain MRI scans, blood tests, and examination of cerebrospinal fluid
drawn from spinal taps (<a href="https://curehd.blogspot.com/2020/10/triplet-therapeutics-aims-to-transform.html" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif;"> to read more). The sites are Canada,
France, Germany, the United Kingdom, and the U.S.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In March,
Triplet scientists presented a <a href="https://chdifoundation.org/2022-conference/#antonijevic" rel="nofollow" target="_blank">preliminary analysis</a>
of this data at the 17th Annual HD Therapeutics Conference, sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a>, the virtual nonprofit
biotech focused exclusively on developing HD therapies. CHDI is the largest
private funder of HD research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">SHIELD HD may end in the next few months. In Bermingham’s announcement about the closure
of Triplet, he said that CHDI, “a great partner and patient advocate,” stepped
in to help SHIELD HD sites complete their work.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet’s
representatives are now seeking potential partners to continue the company’s
research, including a new plan for a clinical trial.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Assessing
risk</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In an online
interview with me on October 21, Irina Antonijevic, M.D., Ph.D., the former
chief medical officer of Triplet, explained that discovering toxicity of the
ASO in the animal studies surprised the firm’s researchers. However, she
emphasized that the toxicity was “minimal” at therapeutic dose levels, with the animals not suffering any
functional loss.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As noted
publicly, Triplet had also developed several, more potent backup ASOs, Dr.
Antonijevic said. The more potent the drug, the smaller the dose needed,
therefore reducing the chance of toxicity or an adverse effect, she added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Nevertheless,
in a more risk-averse investment climate, Triplet could not find the necessary
partners to carry on its clinical trial program with the added concern about the
toxicity, Dr. Antonijevic observed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I think
that they are just sort of very different risks,” she said. “Somebody takes
maybe a risk to say, ‘Maybe this drug has a risk, but I have a disease, and I
know what this disease will do to me.’”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For a drug
company, the risk involves “investing millions” and waiting years to see if there is a return on investment, she said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Tweaking
drug safety, efficacy, and delivery</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet’s
experience revealed how the field of HD drug development needs to tweak the
safety, efficacy, and delivery of ASOs into the brain. Despite the challenges,
a number of other firms and many researchers believe ASOs merit more study and
clinical trials. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche has
developed a revised clinical trial plan, including lower and thus potentially
less toxic doses of its ASO. It will start a second trial of that ASO <a href="https://curehd.blogspot.com/2022/09/roche-confirms-second-more-focused.html" rel="nofollow" target="_blank">in early 2023</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Wave, building
on its failed 2021 early stage trials of two ASOs, put a third drug into another
small, early phase trial. Unlike the previous drugs, this Wave ASO successfully
reduced the mutant huntingtin protein. Also, for the first time, it did this <i>without
lowering</i> the level of the healthy protein – something that occurs with the
Roche drug.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“This is,
as far as we know, the first time anyone has ever selectively lowered only one
copy [of a total of two] of a protein inside of a human body,” the HD science
site <a href="https://en.hdbuzz.net/335" rel="nofollow" target="_blank">HDBuzz</a> commented on Sept. 30</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The method
of delivery is important for all drugs, especially for ones introduced into the
brain. The Roche and Wave trials use spinal taps (intrathecal injections).
Triplet had projected using an</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">injection
via a small reservoir implanted on the top of the brain. The firm uniQure is
injecting its drug using <a href="https://www.youtube.com/watch?v=qILELaiWtcE" rel="nofollow" target="_blank">brain operations</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Developing
a pill</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Drug
developers point out that the most convenient HD drug would be a pill – taken
orally, at home, and without medical assistance. These drugs are known as small
molecules.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Several
firms have embarked on small molecule clinical trial programs for HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">An
important trial of one of these small molecule drugs, a huntingtin-lowering
pill developed by <a href="https://www.novartis.com/us-en/" rel="nofollow" target="_blank">Novartis</a>, was halted in
August for <a href="https://en.hdbuzz.net/328" rel="nofollow" target="_blank">safety reasons</a></span><span style="font-family: "Times New Roman",serif;">. Some of the trial volunteers on
the drug developed problems with their nerves, known as peripheral neuropathy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">FDA
requests more data from PTC</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On October
18, another firm enrolling people in a clinical trial for a small molecule, <a href="https://www.ptcbio.com/" rel="nofollow" target="_blank">PTC Therapeutics, Inc.</a></span><span style="font-family: "Times New Roman",serif;">, was asked by the U.S. Food and
Drug Administration (FDA), to provide <a href="https://finance.yahoo.com/news/reaction-overdone-ptc-therapeutics-pausing-190228169.html" rel="nofollow" target="_blank">further information</a>
before allowing a clinical trial of its HD drug, PTC518. PTC announced that
enrollment is ongoing for the planned 12-month Phase 2 trial in several
European countries and Australia. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Both
branaplam and PTC518 are so-called splicing molecules.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“PTC
pioneered the development of splicing molecules and we have learned about the
essential elements to successfully develop these molecules,” Jeanine Clemente,
the senior director of corporate communications at PTC, wrote me in an October 20 e-mail
in response to my questions about the FDA decision. “We cannot comment on the
FDA’s thoughts regarding branaplam or splicing molecules, in general.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
Clemente pointed out that PTC518 is highly specific and selective for the
huntington gene.” She added that, in many important ways, “PTC518 is different
than branaplam.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">HDBuzz
<a href="https://en.hdbuzz.net/328" rel="nofollow" target="_blank">also noted</a>
that PTC518 “may have more ideal drug properties, compared to branaplam.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="color: #242424; font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The FDA has asked PTC for additional data to </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">support
the dose levels and duration proposed in the trial, Clemente wrote.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Clemente added that PTC enrolled its trial entirely with
patients outside of the U.S., including approvals to conduct the study at all
proposed dose levels. “There have been no treatment-associated adverse events
reported to date,” she stated. “We will continue to work with the FDA to
potentially enable enrollment of U.S. patients in the trial.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Keeping
perspective in a difficult fight</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Triplet
will host a podcast later this year to discuss the “birth, life and death” of
the firm, CEO Bermingham stated in his announcement of the closure.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The HD
community must keep the Triplet shutdown – and all news regarding the ups and
downs of the search for HD therapies – in perspective, noted Martha Nance,
M.D., the director of the Huntington’s Disease Society of America Center of
Excellence at Hennepin County Medical Center in Minneapolis.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“We would
not do research if we already knew all the answers,” Dr. Nance wrote me in
an October 18 e-mail. “HD patients and families have bravely faced their
difficult disease for generations, and the doctors and scientists are doing
their best, along with patients and families, to find a brighter path.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As an asymptomatic
HD gene expansion carrier who has not yet participated in a clinical trial, I
had high hopes for the Triplet program, with its focus on attacking the disease
in the early stages. I was deeply saddened to hear that the firm closed. I also
felt in the gut once again the hard reality of marshalling resources –
including financial support – for combating rare diseases.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Companies
like Triplet are venture capital-funded businesses pursuing high-risk,
high-reward endeavors, and many such endeavors fail. So we are fortunate to
have a nonprofit like CHDI as a backstop. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Nance’s wisdom reminded me of the need to join with my fellow HD and rare
disease advocates to regroup in the fight for therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Finding a
solution to brain cell death in HD is not easy,” she observed. “And as we edge
closer to an answer, each failure seems more dramatic. It would be nice if the
answer would just reveal itself, if the answer to HD was simple and easy, but
we will not let the setbacks of the last two years prevent us from moving
forward.”</span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-67940887562838511742022-09-20T12:39:00.003-07:002022-09-21T10:57:30.216-07:00Roche confirms second, more focused, trial of Huntington’s disease drug will start early next year<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As
<a href="https://curehd.blogspot.com/2022/01/after-setback-roche-to-run-new-clinical.html" rel="nofollow" target="_blank">anticipated</a></span><span style="font-family: "Times New Roman",serif;">, the pharmaceutical firm <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a></span><span style="font-family: "Times New Roman",serif;"> will retest its Huntington’s
disease gene silencing drug, tominersen, by enrolling a more limited group of volunteers
for a new clinical trial, which should start in early 2023.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche
announced the new trial, GENERATION HD2, on September 18 at a meeting of the
<a href="http://www.ehdn.org/" rel="nofollow" target="_blank">European Huntington’s Disease Network</a></span><span style="font-family: "Times New Roman",serif;"> (EHDN) in Bologna, Italy. Roche also
issued <a href="https://hdsa.org/wp-content/uploads/2022/09/Roche-Global-Patient-Community-letter_EHDN-2022.pdf" rel="nofollow" target="_blank">a letter</a></span><span style="font-family: "Times New Roman",serif;"> to the HD community.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche
<a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank">halted</a></span><span style="font-family: "Times New Roman",serif;"><a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank"> the GENERATION HD1 trial</a> of
tominersen in March 2021 because of lack of efficacy against HD symptoms.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
after months analyzing the GENERATION HD1 data, Roche reported in January that
tominersen might benefit <a href="https://curehd.blogspot.com/2022/01/after-setback-roche-to-run-new-clinical.html" rel="nofollow" target="_blank">younger patients with less advanced symptoms</a></span><span style="font-family: "Times New Roman",serif;"><a href="https://curehd.blogspot.com/2022/01/after-setback-roche-to-run-new-clinical.html" rel="nofollow" target="_blank">.</a> The new 16-month study,
GENERATION HD2, will verify efficacy in that group. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">GENERATION
HD1 enrolled clinical trial volunteers ranging in age <a href="https://clinicaltrials.gov/ct2/show/NCT03761849" rel="nofollow" target="_blank">from 25-65</a></span><span style="font-family: "Times New Roman",serif;"> and included people with more
advanced disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">GENERATION
HD2 will limit participation to people aged 25-50 who have “prodromal (very
early subtle signs of HD) or early manifest HD,” the Roche letter stated.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I am very
excited about this new trial,” Jody Corey-Bloom, M.D., Ph.D., wrote me in a
September 19 e-mail.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Corey-Bloom directs the Huntington’s Disease Society of America (HDSA) <a href="https://neurosciences.ucsd.edu/centers-programs/huntingtons-disease/index.html" rel="nofollow" target="_blank">Center of Excellence</a></span><span style="font-family: "Times New Roman",serif;"> at the University of
California San Diego, a site for GENERATION HD1 and again for GENERATION HD2.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“A lot of
thought has gone into the new trial,” Dr Corey-Bloom observed. “I think this is
a very well-planned trial!”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgpmBEJi67ZwUVMtI1iXXjoF_zPOlT_vvOzYWYhufwg3KM8CijlUM8JuJTWlJum4hO3xusf6M05wOQau6z00pGBiUguNxWK0gmE8qxehYUUXsBd5MpPdYZqGzaUqBt3vBXACEPdIj0bpB14ZkzVr0uPptViSIP9SQVJQ9wXcMmPRaMtvN39_5s/s1250/RocheHQ-NormanOderFoto.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1250" data-original-width="713" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgpmBEJi67ZwUVMtI1iXXjoF_zPOlT_vvOzYWYhufwg3KM8CijlUM8JuJTWlJum4hO3xusf6M05wOQau6z00pGBiUguNxWK0gmE8qxehYUUXsBd5MpPdYZqGzaUqBt3vBXACEPdIj0bpB14ZkzVr0uPptViSIP9SQVJQ9wXcMmPRaMtvN39_5s/w229-h400/RocheHQ-NormanOderFoto.jpeg" width="229" /></a></div><br /><i>Roche world headquarters in Basel, Switzerland (photo by Norman Oder)</i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Key
adjustments in dosing</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">According
to the Roche statement, GENERATION HD2 aims to sign up approximately 360 participants
in approximately fifteen countries (Argentina, Austria, Australia, Canada,
Denmark, France, Germany, Italy, New Zealand, Poland, Portugal, Spain, Switzerland,
the United Kingdom, and the United States). Additional locations might be
added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The study will have three cohorts. One third will receive placebo, one third 60 mg of tominersen, and one third 100 mg. To ensure the
objectivity of the trial, neither the participant nor study team will know what
the participant receives.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
contrast with GENERATION HD1, the new trial also will administer lower doses of
tominersen. In GENERATION HD1, all volunteers receiving the drug took 120 mg.
In GENERATION HD2, participants taking the drug will get either 60 mg or 100
mg. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Another
key difference involves the frequency of dosing. GENERATION HD1 administered
the drug every two or four months, whereas the new study will dose at only four
months.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">These
adjustments are a major goal of the study: to determine whether lower or less
frequent dosing can be beneficial. Such lower dosing or less frequent dosing potentially
avoids some of the problems seen in GENERATION HD1. In that trial, the higher
dose did not benefit volunteers (click <a href="https://en.hdbuzz.net/316" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> and <a href="https://en.hdbuzz.net/330" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As in the
first trial, in GENERATION HD2 tominersen will be administered via lumbar
puncture (spinal tap).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Renewed
but cautious hope for preventing HD</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The Roche
letter reported that GENERATION HD1 and all other related tominersen studies
have closed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“These
studies comprised the first-ever Phase III [efficacy] clinical program to test
the huntingtin-lowering hypothesis,” the letter noted, referring to
tominersen’s mechanism of lowering the amount the huntingtin protein involved
in HD. “Additionally, it was because of the HD community’s commitment to
research that the trials recruited faster than anticipated, and thus generated
data faster than anticipated.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">That
commitment, the letter observed, “inspires all researchers to continue pursuing
potential options for people impacted by the disease.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche will
announce additional information about GENERATION HD2 in the coming months.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">After the
devastating news about tominersen 18 months ago, its potential seemed dead.
Now, though enthusiasm about tominersen has perhaps diminished, a new, albeit less ambitious, path perhaps
has emerged for the drug.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">"Overall, the announcement of the new GENERATION HD2 trial at the EHDN meeting was well received by the audience in Bologna, which was a mix of clinicians, scientists, and families," HDSA CEO Louise Vetter, who attended the meeting, wrote me in an e-mail. "The fact that this trial is clearly a dose-finding study was notable, and it seem representative of the more conservative mood in the HD clinical science right now."<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“While the
results of GENERATION HD1 were certainly disappointing for everyone, they don’t
mean that huntingtin-lowering isn’t a viable therapeutic approach,” Sarah
Hernandez, Ph.D., the Director of Research Programs for the HD-focused
<a href="https://www.hdfoundation.org/leadership" rel="nofollow" target="_blank">Hereditary Disease Foundation</a>,
wrote me in an e-mail. “Targeting huntingtin directly targets the
cause of HD and remains one of the strongest therapeutic hypotheses.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">GENERATION
HD1’s results “also don’t mean that HTT lowering won’t eventually work for a broad
population of people with HD,” Dr. Hernandez added. “They just mean that
tominersen seems to require a more narrow patient group for efficacy. The new GENERATION
HD2 trial seeks to define exactly what that patient group is, which could be
very significant in moving the field forward.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My hope is
that GENERATION HD2’s aim to treat individuals earlier in the disease could
generate valuable insights for a major goal in the science of HD and other
neurodegenerative diseases: a therapy to <a href="https://curehd.blogspot.com/2011/11/waiting-in-wings-gene-positive-and.html" rel="nofollow" target="_blank">prevent symptoms</a> from appearing in
disease gene carriers like me</span><span style="font-family: "Times New Roman",serif;">.</span></p>
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{page:WordSection1;}</style> </p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-7492451340200457452022-08-30T17:30:00.000-07:002022-08-30T17:30:51.528-07:00After other firms’ setbacks, Prilenia readies for readout on Huntington’s drug that improves daily function<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">August
brought more difficult news for the Huntington’s disease community with the
halting of yet two more clinical trials. However, <a href="https://www.prilenia.com/" rel="nofollow" target="_blank">Prilenia Therapeutics</a></span><span style="font-family: "Times New Roman",serif;"> announced at a major research
conference last week that it expects to obtain definitive results from a study
of a drug proposed to improve function in the early stages of the disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Prilenia
CEO and founder Michael Hayden, M.D., Ph.D., a leading HD scientist, reported
that the Phase 3 clinical trial of pridopidine is on schedule, with
administrators expected to release results early in the second quarter of 2023.
(<a href="https://curehd.blogspot.com/2021/04/with-proof-hd-in-lead-huntingtons.html" rel="nofollow" target="_blank">Click here</a></span><span style="font-family: "Times New Roman",serif;"> for background on pridopidine, Dr.
Hayden, and Prilenia.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On August
25 Dr. Hayden provided a brief update on the trial, called <a href="https://huntingtonstudygroup.org/proof-hd/" rel="nofollow" target="_blank">PROOF-HD</a></span><span style="font-family: "Times New Roman",serif;"> (PRidopidine Outcome On Function
In Huntington Disease), at HD2022: Milton Wexler Biennial Symposium, sponsored
by the HD-focused <a href="https://www.hdfoundation.org/" rel="nofollow" target="_blank">Hereditary Disease Foundation</a></span><span style="font-family: "Times New Roman",serif;">. It was held August 24-27 at the
Royal Sonesta Hotel in Cambridge, MA.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">If
successful, the PROOF-HD trial will result in a landmark not just for HD, but
neurodegenerative diseases in general. Its potential significance has increased
because of the disappointing results from two important HD gene silencing
clinical trials in <a href="https://curehd.blogspot.com/2021/04/overcoming-heartbreaking-moment-for.html" rel="nofollow" target="_blank">March 2021</a></span><span style="font-family: "Times New Roman",serif;"> and the news this month that key
trials by <a href="https://en.hdbuzz.net/328" rel="nofollow" target="_blank">Novartis</a></span><span style="font-family: "Times New Roman",serif;">
and <a href="https://en.hdbuzz.net/329" rel="nofollow" target="_blank">uniQure</a></span><span style="font-family: "Times New Roman",serif;"> had to stop dosing
because of safety concerns.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In an
August 27 interview with me, Dr. Hayden explained pridopidine’s benefits.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“It's the
only drug that has showed some impact on stabilizing TFC [total functional
capacity], keeping patients functional, keeping them managing their finances,
keeping them at work, keeping them going for walks with their children and
grandchildren, keeping them doing activities of daily living for longer,” Dr.
Hayden said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Analysis
of pridopidine has <a href="https://curehd.blogspot.com/2021/04/with-proof-hd-in-lead-huntingtons.html" rel="nofollow" target="_blank">demonstrated</a>
that patients taking the drug showed a slower decline in TFC. In early
patients, pridopidine can maintain TFC and slow deterioration</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4UgeDCoUb-mBWUyRPWA613aBTsYa43X-t8mCWCL-mxB6RzJSNSs9y2qCXYPLa4--_5OxWhGb9EfhYhj7i2VAJOhJTE_YNgnYX3WOxUc1kaPGNxTL_Et3Ysvx8X3vRkXFqvOxUb_e3MeZ-inPyrSyJjRZ9FK5m7WN3t5P2dNYYBqkBttXiLp4/s1280/Hayden-McColgan-2022.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1280" data-original-width="938" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4UgeDCoUb-mBWUyRPWA613aBTsYa43X-t8mCWCL-mxB6RzJSNSs9y2qCXYPLa4--_5OxWhGb9EfhYhj7i2VAJOhJTE_YNgnYX3WOxUc1kaPGNxTL_Et3Ysvx8X3vRkXFqvOxUb_e3MeZ-inPyrSyJjRZ9FK5m7WN3t5P2dNYYBqkBttXiLp4/w294-h400/Hayden-McColgan-2022.jpeg" width="294" /></a></div><br /><i>Dr. Michael Hayden (left) confers with Peter McColgan, M.D., the clinical director for the HD program at Roche, during a break in the Milton Wexler Symposium (photo by Gene Veritas, aka Kenneth P. Serbin)</i><br /><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Neuroprotective
effects</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
earlier, revised analysis of pridopidine led to a “surprising but very welcome
result,” Dr. Hayden continued. Pridopidine works as a “highly potent and highly
selective sigma-1 receptor agonist.” An <a href="https://www.sciencedirect.com/topics/neuroscience/agonist" rel="nofollow" target="_blank">agonist</a></span><span style="font-family: "Times New Roman",serif;"> is a drug that mimics a natural
substance, while sigma-1 is “a molecular chaperone,” a chemical that helps
proteins perform the important function of folding. He called pridopidine “the
most potent and selective” sigma-1 agonist ever described.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In everybody’s
cells, decreased sigma-1 has a negative impact on monitoring stress, including
for the endoplasmic reticulum, a key organelle (subunit) that manages stress.
In HD, this subunit experiences disturbances that cause an imbalance in the
cell, Dr. Hayden said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Overall, a
reduction in sigma-1 makes neurodegeneration (slow and progressive loss of
brain cells) get worse, Dr. Hayden explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
pridopidine <i>enhances</i> sigma-1. The drug has “all in all neuroprotective
effects,” by reducing cellular stress and even increasing the critical
“connectivity” of the brain and the removal of “toxic products.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Critically,
pridopidine is “the only [HD] drug that has shown stabilization of
<a href="https://en.hdbuzz.net/242" rel="nofollow" target="_blank">neurofilament</a>,” an important marker of
disease progression, Dr. Hayden observed. An increase in levels of neurofilament, which makes up a brain cell's scaffolding,
indicates dysfunction.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhvhxRXvELlN2LVzJdLhGhIuW_V062CKTRcaGn2U-lEIKH9NqqLrGQxfOgkXJM_FMREMojv0DwtoXRTsL2QwnWqIl2zWBUB3pkXoEZMHCyOE0qHsYo8PJa1mF0Rfe4BaGLbR7azBOkxFxb0WIpTlevuDlFnzAVs0-7chfXktSVKz90usDwwWEU/s1280/Prilenia-NFL-Poster.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1280" data-original-width="963" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhvhxRXvELlN2LVzJdLhGhIuW_V062CKTRcaGn2U-lEIKH9NqqLrGQxfOgkXJM_FMREMojv0DwtoXRTsL2QwnWqIl2zWBUB3pkXoEZMHCyOE0qHsYo8PJa1mF0Rfe4BaGLbR7azBOkxFxb0WIpTlevuDlFnzAVs0-7chfXktSVKz90usDwwWEU/w301-h400/Prilenia-NFL-Poster.jpeg" width="301" /></a></div><br /><i>A Prilenia poster demonstrating the positive effect of pridopidine on total functional capacity and stabilization of neurofilament (photo by Gene Veritas)</i><br /><p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A safe
and tolerable drug</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">PROOF-HD
seeks to confirm pridopidine’s efficacy so that it might be approved as a drug by
the U.S. Food and Drug Administration (FDA).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“We
submitted this to the FDA, and the FDA was hugely supportive,” Dr. Hayden said.
Last November the FDA granted pridopidine a <a href="https://www.prilenia.com/prilenia-receives-fast-track-designation-for-pridopidine-for-huntington-disease" rel="nofollow" target="_blank">“fast track” designation</a>
to potentially speed drug approval, because HD is a “significant unmet need,”
Dr. Hayden noted. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The designation
“allows us to have a closer relationship with the regulators as we go through
this process,” he said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Despite
the coronavirus pandemic, PROOF-HD began ahead of schedule in October 2020 and is
on schedule to report results in about eight months. It recruited 499 clinical
trial volunteers, more than the goal of 480, at several dozen sites in the
U.S., Canada, and Europe.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">So far,
the standard safety monitoring board has found no reason halt the trial. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“So that's
also encouraging that this is a very safe and tolerable drug,” said Dr. Hayden. </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhRrfzEocyfS4nqmlSjE2aXKEepnG40tbNc--tqZAxgKigbhUy-qjuVgQ_65_02_6i1RVxLkrLDzb__NXBNBDqNRrJ3-F7Es-ENbZx4ac95zqlBaV2rTolII2G8ct5AwWTV8KI_DjnlrkC4cGSxeuZ3KkYq4qCnhb8SlFB6GWR0Hy0EdnsfK9A/s1280/Prilenia-Endpoints.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1011" data-original-width="1280" height="316" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhRrfzEocyfS4nqmlSjE2aXKEepnG40tbNc--tqZAxgKigbhUy-qjuVgQ_65_02_6i1RVxLkrLDzb__NXBNBDqNRrJ3-F7Es-ENbZx4ac95zqlBaV2rTolII2G8ct5AwWTV8KI_DjnlrkC4cGSxeuZ3KkYq4qCnhb8SlFB6GWR0Hy0EdnsfK9A/w400-h316/Prilenia-Endpoints.jpeg" width="400" /></a></div><br /><i>A Prilenia slide with an overview of PROOF-HD, including the main goals (endpoints) (photo by Gene Veritas)</i> <br /><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Seeking
to prevent disease</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
contrast with other top HD drug programs using brain or spinal injections,
pridopidine is taken orally twice daily, “without any need for nursing care,”
Dr. Hayden pointed out.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">If
PROOF-HD is highly successful, inviting a priority review by the FDA, Dr.
Hayden said that pridopidine could become available for patients in mid-2024.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“My vision
for pridopidine is that it could become a standard of care for neuroprotection,”
Dr. Hayden stated in a January <a href="https://www.ddw-online.com/sitting-down-with-dr-michael-hayden-prilenia-therapeutic-15373-202201/" rel="nofollow" target="_blank">interview</a>.
“For diseases where we can define patients who are close to onset of a
neurodegenerative condition, an oral therapy with a benign safety profile –
which is what we are trying to establish in our current and planned clinical
trials – could become a preventative treatment option.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In a
January 2021 Huntington’s Disease Society of America (HDSA) <a href="https://www.youtube.com/watch?v=kMB_Jx-Am40&list=PLLQmMRDsNEY3oBm9cZ8sfb5Blh1Y3weG_&index=5" rel="nofollow" target="_blank">webinar</a>,
Sandra Kostyk, M.D., Ph.D, the co-principal investigator for PROOF-HD in the
U.S., referred to pridopidine as a possible “disease-modifying intervention –
something that slows the course of the disease.” The data indicate that
early-stage HD patients could obtain “long-term beneficial effects” from an
approved pridopidine drug for five years or more, she said.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgnK-rs3X3CueGm9itsL84AW8zptHVvK-k6FagEp2PwNdyM-J-XAmpP_q9bF59cA8C4lzx8CCn-zQhoSsU3cxvHGdCdKJkLJQPu3XEpKd7iaAtJPQb3VW6C4_j_WuRE33uGrwwyaDXb71qYKc7_-_zO1jr20Zm5sfhl0koYN7_y99tE-KccP9E/s1280/Prilenia-Small-Molecules.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="938" data-original-width="1280" height="294" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgnK-rs3X3CueGm9itsL84AW8zptHVvK-k6FagEp2PwNdyM-J-XAmpP_q9bF59cA8C4lzx8CCn-zQhoSsU3cxvHGdCdKJkLJQPu3XEpKd7iaAtJPQb3VW6C4_j_WuRE33uGrwwyaDXb71qYKc7_-_zO1jr20Zm5sfhl0koYN7_y99tE-KccP9E/w400-h294/Prilenia-Small-Molecules.jpeg" width="400" /></a></div><p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>A Prilenia slide about the advantages of small molecule drugs, the preferred method of treatment in HD. Pridopidine is in that category (photo by Gene Veritas)</i><br /> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">An
upcoming update, a caution, and hope</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On
September 7, HDSA will host a webinar further updating PROOF-HD and
featuring Dr. Hayden, Dr. Kostyk, and Andrew Feigin, M.D.,
the trial’s principal investigator in the U.S. <a href="https://hdsa-org.zoom.us/webinar/register/WN_xDNHT5dDSdOYrrWvmQJg7g" rel="nofollow" target="_blank">Click here</a></span><span style="font-family: "Times New Roman",serif;"> to register.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Of course,
there's no certainty that this drug will be successful,” Dr. Hayden told me.
“Forty percent of Phase 3 trials fail. So, we have a 60 percent chance. In a
Phase 3 trial, things fail for all kinds of unexpected reasons, as sadly we've
seen in the Huntington's field.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Pursuing
successful trials for pridopidine “has been a long struggle for everybody,” Dr.
Hayden concluded. “This is hopeful, but we're not there yet. But hold on as we
go on this journey as co-travelers in the attempt to find some way to moderate
the course of this dreadful illness.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">(Future
articles will cover other aspects of the Milton Wexler Symposium. Also see @HDBuzzFeed
on Twitter and this <a href="https://en.hdbuzz.net/330" rel="nofollow" target="_blank">article</a>.)</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhhWSjvUnPIDz3tnNjeBFxeia22Juxup3Jrw4s5os5YzSjkBLLLyk1CAi_o4L1TGd7e8MZhxBoK7vIMefUkxsB34xFGRjkE-KCzCImDsdVXTrOog8NEkRntKtjI1GfULKrrL2S7DmNUIWo717XDpaEHVT2t4LhQktOXG28j3SgpmisxcW1vzqM/s1280/Hayden-Caron-2022.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="942" data-original-width="1280" height="295" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhhWSjvUnPIDz3tnNjeBFxeia22Juxup3Jrw4s5os5YzSjkBLLLyk1CAi_o4L1TGd7e8MZhxBoK7vIMefUkxsB34xFGRjkE-KCzCImDsdVXTrOog8NEkRntKtjI1GfULKrrL2S7DmNUIWo717XDpaEHVT2t4LhQktOXG28j3SgpmisxcW1vzqM/w400-h295/Hayden-Caron-2022.jpeg" width="400" /></a></div><br /><i>Dr. Hayden (right) and <a href="https://hdsa.org/hd-research/spotlight-on-hd-researchers/dr-nicholas-caron/" rel="nofollow" target="_blank">Nicholas Caron, Ph.D.</a>, exchange ideas at the poster session of the Milton Wexler Symposium (photo by Gene Veritas).</i><br /><p></p>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-79669739454286891282022-08-02T11:47:00.005-07:002022-08-02T12:45:06.264-07:00Bridging the Huntington’s and early onset Alzheimer’s disease communities: a report from a family conference<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
quest to conquer chronic illnesses, members of disease communities need to
build solidarity and learn from one another. I explored this theme in a 2018
<a href="https://curehd.blogspot.com/2018/12/building-solidarity-in-disease.html" rel="nofollow" target="_blank">article</a> about the fellowship</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">that a
sufferer of type 1 diabetes and I, a gene carrier for Huntington’s disease, had
built in our student-teacher relationship at the University of San Diego</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On July
30, the common challenge of the daunting search for therapies for
neurodegenerative diseases hit home again as I participated in the eighth
international DIAD Family Conference, held at the Hilton San Diego Bayfront
hotel in downtown San Diego. DIAD stands for “dominantly inherited Alzheimer’s
disease,” also known by other names, including <a href="https://rarediseases.info.nih.gov/diseases/12798/early-onset-autosomal-dominant-alzheimer-disease" rel="nofollow" target="_blank">early onset familial Alzheimer’s disease</a></span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Late onset
Alzheimer’s affects more than 5.8 million mainly elderly Americans but has no
clear cause. In contrast, early onset Alzheimer’s – like Huntington’s – is a
rare disease with a known genetic cause. Like HD, it strikes in the prime of
life, when people as young as their twenties are affected.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Both HD
and early onset Alzheimer’s are autosomal dominant conditions: carriers of a
mutant gene will definitely develop the disease, and their children have a
50-50 chance of inheriting the disorder. In HD, the mutant huntingtin gene is
the culprit. In early onset Alzheimer’s, one of <a href="https://www.youngtimers.org/thedisease" rel="nofollow" target="_blank">three different mutations</a>
causes disease</span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Early
onset Alzheimer’s is rarer than HD. Approximately 41,000 individuals live with
HD in the U.S. Globally, an estimated 45,000 people have early onset
Alzheimer’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Sadly, as
with HD, there is no treatment yet to arrest the progression of the disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I
learned at the conference, early onset Alzheimer’s, like HD, produces
devastating, ultimately deadly symptoms mainly affecting a person’s memory and
behavior. Common <a href="https://www.youngtimers.org/thedisease" rel="nofollow" target="_blank">symptoms</a> include: abnormal social behavior, agitation,
confusion/disorientation, hallucinations, hypertonia (arms/legs are difficult
to move/reduced flexibility), language impairment, dementia, Parkinsonism
(movement abnormality: tremor, slow movement, muscle stiffness), seizures, and
disinhibition.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJXtd-x-0PmM3CdqNaJmAFHbkgtdN_yqVCUG_14vSHAiGFvwiGdTiAAsJGSTH3KNM-Sac1VXZgEUjGOyoaJwXE58XED8FLpdFdGZOTZiSUUf3_y8U-OyzI52OCYOiWB6LBBjIrJIP0-OC3MmzqO2LYF9v7P4pelKv-hnIAJxETboiO0I-5fvA/s1280/GV-DIAD_2022.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1280" height="300" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJXtd-x-0PmM3CdqNaJmAFHbkgtdN_yqVCUG_14vSHAiGFvwiGdTiAAsJGSTH3KNM-Sac1VXZgEUjGOyoaJwXE58XED8FLpdFdGZOTZiSUUf3_y8U-OyzI52OCYOiWB6LBBjIrJIP0-OC3MmzqO2LYF9v7P4pelKv-hnIAJxETboiO0I-5fvA/w400-h300/GV-DIAD_2022.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Gene Veritas (aka Kenneth P. Serbin) at the 2022 DIAD Family Conference (photo by Gene Veritas)</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Sharing
insights with an Alzheimer’s researcher</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I was
invited to the DIAD Family Conference by <a href="https://faculty.sites.uci.edu/kimgreen/lindsay-hohsfield/" rel="nofollow" target="_blank">Lindsay Hohsfield, Ph.D.</a>,
co-founder of <a href="https://www.youngtimers.org/" rel="nofollow" target="_blank">Youngtimers</a>, a 501c3 nonprofit established in 2021 to promote education, support, and research for the early onset familial Alzheimer's community.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
group’s motto is: “we are too young to forget, too many to be forgotten.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">An
Alzheimer’s researcher focusing on ways brain cells control inflammation, Dr.
Hohsfield was inspired to enter the field after her father’s diagnosis with
early onset Alzheimer’s. He died in his early 50s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“When my
father was sick, my family and I felt isolated and lost,” Dr. Hohsfield wrote
in a <a href="https://www.youngtimers.org/aboutus" rel="nofollow" target="_blank">letter</a> on the organization’s website</span><span style="font-family: "Times New Roman",serif;">. “My hope is that with
Youngtimers, no early onset familial Alzheimer’s patient and family will ever
have to feel alone.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Hohsfield has also explored the dilemma of <a href="https://doi.org/10.1186/s12967-021-02930-2" rel="nofollow" target="_blank">“childbearing versus clinical trial participation”</a></span><span style="font-family: "Times New Roman",serif;"> for Huntington’s and early onset
Alzheimer’s families. Currently, pregnant women are excluded from clinical
trials for those disorders. She calls for the establishment of a standard to address
patient well-being and needs concerning this dilemma.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In May Dr.
Hohsfield, a reader of this blog, interviewed me on Zoom about my article
reflecting on the significant <a href="https://curehd.blogspot.com/2021/09/bidding-farewell-to-my-mind-coach-major.html" rel="nofollow" target="_blank">benefits of psychotherapy</a> in my fight against
Huntington’s</span><span style="font-family: "Times New Roman",serif;">. That article sparked a
discussion in the early Alzheimer’s community about finding a life coach/mind
coach to help cope with testing positive for that disorder and living life to
the fullest. The interview with Dr. Hohsfield will be posted on the
Youngtimers’ website.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Facilitating
support sessions</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Hohsfield and the conference organizers invited me to facilitate two one-hour
drop-in support sessions for members of early onset Alzheimer’s families.
Leveraging my long experience as an HD gene carrier and advocate, I was
assigned to a table discussing “post genetic testing: coping with risk and how
it changes over time.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Other
tables covered grief, communication, living with symptoms, and “catching your
breath.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In all,
about a dozen people came to my table over the two hours. Usually, rather than
having me facilitate, we exchanged ideas about genetic testing, prenatal
testing, workplace confidentiality about our genetic status, securing insurance
coverage, and more. </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEggYfps8DwN4seyectLBWZT5m7zboMvO62m6X-F5XmhEqmteB_Sdu_o7FeBjTpVy9FfEg8zF8Y04yRfOvv6axBCbpDxNCH01cMkYvUuXDP4de8-o2Rs3B7t0ESCD9t4sDSfp4YMs404q8lrXV32fTOGjOWldUEGUJBQW7XUxspfWKbkmeeddJ4/s1280/DIAD-Genetics-Support_2022.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="945" data-original-width="1280" height="295" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEggYfps8DwN4seyectLBWZT5m7zboMvO62m6X-F5XmhEqmteB_Sdu_o7FeBjTpVy9FfEg8zF8Y04yRfOvv6axBCbpDxNCH01cMkYvUuXDP4de8-o2Rs3B7t0ESCD9t4sDSfp4YMs404q8lrXV32fTOGjOWldUEGUJBQW7XUxspfWKbkmeeddJ4/w400-h295/DIAD-Genetics-Support_2022.jpeg" width="400" /></a></div><br /><i>The "post genetic testing" support sign at the 2022 DIAD Family Conference (photo by Gene Veritas)</i><br /><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The most
poignant moment came when three members of an affected family asked how to
navigate tensions in the extended family over the onset of symptoms one of them
had suffered. That individual, having stopped being a breadwinner, needed medical care and
caregiving.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This went
beyond the scope of genetic testing, so I relied on memories of similar
predicaments at my local HD support group. The other members of the group and I
provided a sounding board for this family, encouraging them to use the
resources offered by Youngtimers and seek out local support.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At these sessions all of us quickly bonded. We found comfort in our shared plight: facing
a devastating neurological disorder.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Framing
HD in a broader light</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The DIAD
Family Conference was sponsored by the <a href="https://dian.wustl.edu/" rel="nofollow" target="_blank">Dominantly Inherited Alzheimer Network</a></span><span style="font-family: "Times New Roman",serif;"> Trials Unit, the <a href="https://www.alz.org/" rel="nofollow" target="_blank">Alzheimer’s Association</a></span><span style="font-family: "Times New Roman",serif;">, and the <a href="https://www.nia.nih.gov/" rel="nofollow" target="_blank">National Institute on Aging</a></span><span style="font-family: "Times New Roman",serif;">. It was held in conjunction with
the <a href="https://aaic.alz.org/overview.asp" rel="nofollow" target="_blank">Alzheimer’s Association International Congress</a></span><span style="font-family: "Times New Roman",serif;">, July 31-August 4, in San Diego.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In between
several moving family presentations to the nearly 200 attendees, the audience
heard updates from Alzheimer’s physicians and researchers on the progress of
research, including ongoing global <a href="https://dian.wustl.edu/our-research/clinical-trial/" rel="nofollow" target="_blank">clinical trials to prevent the disorder</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I have
witnessed at Huntington’s conferences, the Alzheimer’s scientists pointed out
that research advances have brought the field to an unprecedented moment in the
search for treatments. Leading Alzheimer’s researcher <a href="https://batemanlab.wustl.edu/" rel="nofollow" target="_blank">Randall Bateman, M.D.</a>, stated that it is a question of not “if”
but “when” effective therapies become available.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">After the
conference, I met with <a href="https://www.med.upenn.edu/apps/faculty/index.php/g275/p7909" rel="nofollow" target="_blank">Jason Karlawish, M.D.</a></span><span style="font-family: "Times New Roman",serif;">, a University of Pennsylvania
specialist on late onset Alzheimer’s and the author of the key 2021 book <a href="https://us.macmillan.com/books/9781250218742/theproblemofalzheimers" rel="nofollow" target="_blank"><i>The
Problem of Alzheimer’s: How Science, Culture, and Politics Turned a Rare
Disease into a Crisis and What We Can Do About It</i></a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This book
has helped me frame my efforts to understand the <a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">history of the HD cause</a> in a
broader, comparative light</span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A
deeply personal and fulfilling introduction</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
participation in the DIAD Family Conference will help me to understand the
strengths and weaknesses of the Huntington’s movement in comparison with others
facing similar challenges. I hope that, however modestly, it helps point the
way towards increased collaboration in the quest for therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I look
forward to learning more about early onset familial Alzheimer’s disease, its
causes, and symptoms.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I was
moved by the many stories of struggle, but also humor and optimism, from
affected individuals and their families.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">After this
deeply personal and fulfilling introduction to the early onset Alzheimer’s
community, I felt energized.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I look
forward to when both communities can celebrate the discovery of therapies.</span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-18922147649853140442022-06-26T22:33:00.002-07:002022-06-28T15:10:07.369-07:00With the constitutional right to abortion gone, an uncertain medical future for Huntington’s disease families<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With the
U.S. Supreme Court’s <a href="https://www.npr.org/2022/06/25/1107628715/the-supreme-court-is-at-its-most-conservative-now-from-the-last-75-years" rel="nofollow" target="_blank">radical toppling of long-standing abortion rights</a></span><span style="font-family: "Times New Roman",serif;"> on June 24, families affected by Huntington’s disease and thousands of other rare and neurological disorders
face a profoundly uncertain future regarding medical care in the United States.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
majority opinion in the 5-4 decision overturned the 1973 <i>Roe v. Wade</i>
ruling, which was reaffirmed in the 1992 <i>Planned Parenthood v. Casey</i> decision.<i>
</i>Those previous rulings guaranteed a woman’s right to an abortion before
viability of the fetus. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Now, the
authority to regulate abortion has been returned to Congress and the states. The
court voted 6-3 in <i>Dobbs v. Jackson Women’s Health</i>, confirming a
Mississippi ban on most abortions after fifteen weeks of pregnancy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The majority
position held that the Constitution does not confer a right to abortion.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Complicating a heart-wrenching situation<br /></span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">HD
families have relied on prenatal genetic testing and abortion to prevent
passing on the genetic mutation to their children. My mother died of HD in
2006, and I tested positive for the mutation in 1999.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In 2000, our
gestating daughter tested negative for HD in the womb, forestalling the need
for us to consider abortion. She just graduated from college.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Sadly,
many families have lost children to juvenile HD (JHD).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Now,
access to abortion will disappear or be severely restricted in <a href="https://www.npr.org/sections/health-shots/2022/06/24/1107126432/abortion-bans-supreme-court-roe-v-wade" rel="nofollow" target="_blank">almost two dozen states</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“This
complicates an already incredibly difficult and heart-wrenching situation for
women affected by HD,” leading
advocate <a href="https://huntingtonstudygroup.org/hd-insights/lauren-holder/" rel="nofollow" target="_blank">Lauren Holder</a> wrote me in a Facebook message regarding the abortion ruling. An HD gene
carrier, Holder has one at-risk child, and other who tested negative during the pregnancy. She lost her father <a href="https://www.twincitycremations.com/obituary/Stephen-RoseJr" rel="nofollow" target="_blank">Stephen Rose, Jr.</a>, 62, to HD last year.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“If I
could recommend one thing, it would be to not let [our reaction] stand as just
a sad or irate post on social media,” Holder urged. “If we want this to change,
we have to be willing to speak up and advocate for ourselves, for women’s
rights, at the state level now.”</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjLv196BKRTLxdQMgHj6bUY4R1FGTodm2WYUAWN0EAOz2Lctxcn4X5zq2_MVCo0kEGi8Lf_UJ2w-BcSW6aF5bUEf9rJjToZVpMFqAwwWPWECeSsvaE1yyGSqL1UnaoDYyK9IS0In3mblDtk9FovZ4-VINBq_bOh5GxJKzVrCRP_zw507J655IY/s1440/LaurenHolder-StephenRose.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="921" data-original-width="1440" height="256" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjLv196BKRTLxdQMgHj6bUY4R1FGTodm2WYUAWN0EAOz2Lctxcn4X5zq2_MVCo0kEGi8Lf_UJ2w-BcSW6aF5bUEf9rJjToZVpMFqAwwWPWECeSsvaE1yyGSqL1UnaoDYyK9IS0In3mblDtk9FovZ4-VINBq_bOh5GxJKzVrCRP_zw507J655IY/w400-h256/LaurenHolder-StephenRose.jpg" width="400" /></a></div><br /><i>Lauren Holder (left) with her late father Stephen Rose, Jr., who died of HD in 2021 (personal photo)</i><br /><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">HD sheds
light on bioethical challenges</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I
reported in 2011 (click <a href="https://curehd.blogspot.com/2011/12/angel-fighting-for-cure-huntingtons.html" rel="nofollow" target="_blank">here</a>
and <a href="https://curehd.blogspot.com/2011/12/kates-untested-baby-huntingtons-disease.html" rel="nofollow" target="_blank">here</a>),
controversy over abortion in the HD community reflects the national societal
divide.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However, confronting
HD’s devastating symptoms and stigma, our community’s early and deep experience
with genetic and prenatal testing, preimplantation genetic diagnosis (PGD),
suicide, assisted suicide, euthanasia, disability legislation, mistreatment by
the police, a crushing caregiving burden, and other challenges have made us
<a href="https://curehd.blogspot.com/2017/10/advocacy-in-workplace-raising-awareness.html" rel="nofollow" target="_blank">bioethical pioneers</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Those
issues include human embryonic stem cell research, crucial for developing a
greater understanding of HD and potential therapies. I commented on religious
leaders’ concern about the research in a September 2017 presentation on Pope
Francis’s historic meeting the previous May with the HD community in Rome, where
he declared HD to be <a href="https://curehd.blogspot.com/2017/05/pope-francis-declares-huntingtons.html" rel="nofollow" target="_blank">“hidden no more.”</a></span><span style="font-family: "Times New Roman",serif;"> My family and I attended.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Francis had
<a href="https://www.vatican.va/content/francesco/en/speeches/2017/may/documents/papa-francesco_20170518_malati-corea-huntington.html" rel="nofollow" target="_blank">encouraged</a></span><span style="font-family: "Times New Roman",serif;"> the HD scientists present to
avoid research involving human embryos, “inevitably causing their destruction.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Bioethicists,
both within and without the [Catholic] Church, can learn from the HD community,”
I <a href="https://vimeo.com/238306272" rel="nofollow" target="_blank">asserted</a>. “This is not an easy issue, but it
requires dialogue. Unfortunately, some media outlets focused on this aspect of
the meeting, ignoring the historic moment and how Francis exuded love towards
us in the HD community.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Defenders
of the sanctity of human embryos continue to <a href="https://vachristian.org/promoting-the-sanctity-of-human-life-and-the-right-to-life-for-the-baby-in-the-womb/" rel="nofollow" target="_blank">support a ban</a> on this research</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Some
abortion opponents have also proposed that embryos have legal status as persons.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">PGD in jeopardy?</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The blistering
Supreme Court <a href="https://www.cnbc.com/2022/06/24/roe-v-wade-ruling-is-catastrophic-liberal-justices-write-in-furious-dissent.html" rel="nofollow" target="_blank">dissenting opinion</a> by the three liberal justices described the decision
as “catastrophic,” taking away women’s freedoms, threatening other rights, and
eroding the court’s credibility.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Because of
the majority’s position, the dissenting justices <a href="https://www.newsweek.com/full-text-supreme-court-justices-dissenting-opinion-roe-v-wade-1719034" rel="nofollow" target="_blank">affirmed</a></span><span style="font-family: "Times New Roman",serif;"> that the Supreme Court will “surely
face critical questions” about how the ruling will be implemented. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Further,
the Court may face questions about the application of abortion regulations to
medical care most people view as quite different from abortion,” the dissenting
justices wrote. “What about the morning-after pill? IUDs? In vitro
fertilization?”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Earlier
this month, in anticipation of the expected overturn of the right to abortion,
HD advocate Allie LaForce <a href="https://www.statnews.com/2022/06/06/roe-v-wade-preimplantation-genetic-testing-ivf-clinics/" rel="nofollow" target="_blank">recognized</a>
that changes in the laws in some states might lead her and her untested, at-risk
husband, Minnesota Twins baseball pitcher Joe Smith, to change their approach
to assisting families with PGD through their foundation, <a href="https://www.helpcurehd.org/" rel="nofollow" target="_blank">HelpCureHD</a></span><span style="font-family: "Times New Roman",serif;">. PGD involves in vitro
fertilization. LaForce is currently pregnant after using PGD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">LaForce
and Smith have considered the possibility of paying for families to travel out
of state for PGD if they live in a place that has restricted the practice. The
extra cost might reduce the number of families HelpCureHD can help.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A
cautionary tale from Brazil</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Previously</span><span style="font-family: "Times New Roman",serif;">, <a href="https://curehd.blogspot.com/2022/05/surfing-through-life-with-spirit-of.html" rel="nofollow" target="_blank">I noted my long study</a> of the
disturbing history of abortion in Brazil, where it is illegal except in cases
of rape and incest, danger to the life of the mother, and anencephaly, a fatal
condition in which a fetus lacks a complete brain.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Each year,
hundreds of thousands of women are hospitalized in Brazil because of
complications of illegal abortions, and, overall, thousands have died. This
tragedy provides a stark warning for the U.S. as it attempts to adjust to the
Supreme Court decision.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I
wholeheartedly agree with the emphasis on the medical – as opposed to religious
– nature of the abortion question. I also believe in a woman and her family’s
right to choose. In Brazil, I carefully studied – and came to identify with
many of the ideas of – the <a href="https://catolicas.org.br/" rel="nofollow" target="_blank">local version</a> of Catholics for a Free Choice.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
Supreme Court does not consider letters from the general public in its
decisions. In April, I had begun exploring how to contribute to an amicus
brief, which can only be filed by individuals or organizations registered with
the court. I hoped to send a copy of an article I had published in 1995 in <a href="https://www.christiancentury.org/" rel="nofollow" target="_blank">The Christian Century</a></span><span style="font-family: "Times New Roman",serif;"> on abortion in Brazil as well as
copies my blog articles on HD, abortion, and bioethics.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
stunning May 2 <a href="https://www.politico.com/news/2022/05/02/supreme-court-abortion-draft-opinion-00029473" rel="nofollow" target="_blank">leak</a></span><span style="font-family: "Times New Roman",serif;"> of the court’s draft majority
decision made any potential input a moot point. The final version largely
tracked the draft.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Respecting
individual decisions</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
late 1990s, during a conversation about abortion with one group of poor women
in a Rio de Janeiro slum, they told me: “cada caso é um caso,” that is, each woman’s
situation is different.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">After my
2011 articles on HD and abortion in the U.S., I came to that same conclusion
after reflecting on the contrasting predicaments of the couple who aborted
their gene-positive child and the 20-year-old JHD-affected woman who decided to
have her untested, at-risk baby.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
immediate aftermath of the news of the abortion decision, I was struck by the comments
of Phil Metzger, the lead pastor of <a href="https://www.calvarysd.com/" rel="nofollow" target="_blank">Calvary San Diego</a>,
a local Christian church</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“My reaction
is mixed, which you might not expect to hear from a pastor of a church,”
Metzger said in a radio <a href="https://www.kpbs.org/news/local/2022/06/24/dobbs-ruling-gets-mixed-reaction-from-san-diego-religious-community" rel="nofollow" target="_blank">interview</a>.
While the decision was a victory for abortion opponents, it was also a moment
to remember those struggling with the reversal of <i>Roe v. Wade</i>, he
observed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Every
place, I don’t care what institution it is, statistically, somebody in that
group had an abortion,” Metzger continued. “So we have to ask ourselves, ‘Are
they my enemy?’ They're not. And whatever reason brought them to making these
hard choices, God loves them.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Metzger’s
words echo the middle ground sought by some in the abortion debate but drowned
out by the fierce political and legal battles.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Sadly, the
“hard choices” just got immeasurably harder for many women, especially those
disadvantaged by poverty and, now, distance from the states where abortion will
remain legal for at least the time being.</span></p><p><style>@font-face
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{page:WordSection1;}</style> <br /></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-27306431054142678032022-05-21T15:39:00.000-07:002022-05-21T15:39:22.438-07:00Surfing through life with the spirit of aloha<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">To
persevere against neurological diseases such as Huntington’s and the aging we
all face, I have learned that it is essential to develop <a href="https://curehd.blogspot.com/2021/09/bidding-farewell-to-my-mind-coach-major.html" rel="nofollow" target="_blank">meaning and purpose</a>
and perform <a href="https://curehd.blogspot.com/2011/10/bdnf-and-neurobics-building-beautiful.html" rel="nofollow" target="_blank">mental exercise</a>.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In May
1997, just seventeen months after learning that my mother had the devastating symptoms
of Huntington’s, I confided for the first time in a medical professional who
was outside my local support group. Explaining my family’s predicament, I
revealed to a physician in Brazil, my <a href="https://curehd.blogspot.com/2015/08/reinforcing-global-fight-against.html" rel="nofollow" target="_blank">second home</a>,
that I had a 50-50 chance of having inherited the HD mutation. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><a href="https://www.medicinamitoseverdades.com.br/ginecologia-genetica-obstetricia-professor-doutor-thomaz-rafael-gollop" rel="nofollow" target="_blank">Thomaz Gollop, M.D.</a>, </span><span style="font-family: "Times New Roman",serif;">an OB-GYN, knew about the harm
caused by genetic disorders such as HD and the enormous potential for psychological
trauma involved when a family learned it was at risk: in Brazil he helped
pioneer genetic counseling and testing, particularly for families who wanted to
conceive.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I had gone
to interview Dr. Gollop at his São Paulo clinic about abortion, a topic I was researching.
Though Brazil, a fervently Catholic country, had outlawed abortion, millions of
women found ways to terminate their pregnancies, often in precarious
circumstances.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
<a href="https://muse.jhu.edu/article/851149" rel="nofollow" target="_blank">disturbing history</a> of this underground practice provides a cautionary tale for
the U.S.</span><span style="font-family: "Times New Roman",serif;"> as our Supreme Court prepares in
June to apparently renounce five decades of protecting legal abortion. An
affiliate of the American Society of Human Genetics and member of the American
Association for the Advancement of Science, Dr. Gollop has been a leading
advocate in Brazil for women’s health and legalization of abortion, emphasizing
the medical – as opposed to religious – nature of the procedure.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I had not
yet tested for HD. Because of my risk, my Brazilian wife Regina and I had
postponed having children. I saw Dr. Gollop as a shoulder to lean on. I poured
out my heart about my mother’s struggles and my fear of becoming like her.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr. Gollop
told me: just keep doing what you like to do until the disease hits.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In my
journey of risk – I tested positive for the mutation in 1999, followed by our daughter
Bianca’s negative test in 2000 – I have frequently reflected on Dr. Gollop’s
advice by imagining the simultaneous challenge and beauty encountered by a
surfer riding a wave.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Just keep
surfing through life!” I tell myself.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b style="mso-bidi-font-weight: normal;"><span style="font-family: "Times New Roman",serif;">Celebrating our 30th anniversary in
Hawaii</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">During
this, <a href="http://hdsa.org/this-may-letstalkabouthd/" rel="nofollow" target="_blank">Huntington’s Disease Awareness Month</a>,
we must recognize the enormous caregiving and financial burdens imposed by HD.
As a result, affected families must often relinquish their dreams. Regina and I
did not have more children. We gave up buying a vacation condo in Brazil. I <a href="https://www.chronicle.com/article/racing-against-the-genetic-clock/" rel="nofollow" target="_blank">turned down an offer</a> of a better job at a research university in another state so that, if I were
unable to work, we could rely on Regina’s secure salary and pension from her
job as a public school teacher</span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My risk of
becoming disabled means we have focused on saving, to bolster my long-term care
insurance policy. So we usually take modest vacations.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This year,
though, we splurged a bit. To celebrate our 30th wedding anniversary – which I
had never expected to reach with the <a href="https://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">HD-free health I have enjoyed</a></span><span style="font-family: "Times New Roman",serif;"> – we traveled to Hawaii for the
first time. In late March we visited the islands of Kona (the Big Island) and
Oahu.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">We found
Hawaii wondrous with its primordial, balmy setting: we saw molten lava flow in
the crater of a volcano and heard a resounding chorus of birds sing at sunset.
Along with newlyweds and other couples marking anniversaries, we were called to
the stage at a luau to slow dance to a Hawaiian love song in celebration of “ohana,”
the Hawaiian word for family.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Keeping
alive the joy</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I was
introduced to the story of the father of modern surfing, Duke Kahanamoku
(1890-1968), a native of the Waikiki neighborhood of Honolulu. A dark-skinned
man competing in a world dominated by white athletes and sports officials, Kahanamoku
impressed the world by winning gold and silver medals in swimming at the 1912, 1920,
and 1924 Olympics.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Also
active in rowing and water polo, Kahanamoku was one of the greatest athletes of
his era. Always around beaches and pools, throughout his life he also saved many
people from drowning.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I first
read about Kahanamoku in a guidebook praising the popular Honolulu restaurant that
he owned, <a href="https://www.dukeswaikiki.com/" rel="nofollow" target="_blank">Duke’s Waikiki</a></span><span style="font-family: "Times New Roman",serif;">. Powerful local interests had always
capitalized on Kahanamoku’s fame to promote Hawaii as a tourist mecca but
frequently abandoned him to struggle for economic stability on his own. He opened
Duke’s late in life as a way to supplement his income </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Regina and
I visited Duke’s. It has Kahanamoku memorabilia, including one of his large
wooden surfboards. Outside the restaurant Regina took a picture of me in front of a giant wall photo
of Kahanamoku poised to take a dive.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg25ZNcV3sE5we1bRYKAXiTvSHH37CVo36uxnwvOjAwplrL0Ojyh7I7Wti_kUoOvIF3aQSJAC_0N0FA1Pxo6bvtAuxrCKJIUBy1PkQKIlXO5z7w8FhQWJiV-8fY6aKvj80fcE_gC1mud_N6xM2E59yKVRKdOx_53-ssjbO0JcJR9yJ5qoj5eic/s3618/DukeK.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1778" data-original-width="3618" height="196" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg25ZNcV3sE5we1bRYKAXiTvSHH37CVo36uxnwvOjAwplrL0Ojyh7I7Wti_kUoOvIF3aQSJAC_0N0FA1Pxo6bvtAuxrCKJIUBy1PkQKIlXO5z7w8FhQWJiV-8fY6aKvj80fcE_gC1mud_N6xM2E59yKVRKdOx_53-ssjbO0JcJR9yJ5qoj5eic/w400-h196/DukeK.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Gene Veritas, aka Kenneth P. Serbin, standing in front of photo of Duke Kahanamoku in Honolulu (photo by Regina Serbin)</i> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I was
intrigued by Kahanamoku. Returning home to San Diego, I wanted to keep alive
the joy I had felt in Hawaii. Exploring Hawaiian culture and history, I thought,
might build for me new dimensions of meaning and purpose.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Surfing
king Duke Kahanamoku and aloha</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I delved
into journalist David Davis’ <a href="https://www.nebraskapress.unl.edu/nebraska/9780803254770/" rel="nofollow" target="_blank"><i>Waterman: The Life and Times of Duke Kahanamoku</i></a></span><span style="font-family: "Times New Roman",serif;">, the first comprehensive
biography of Kahanamoku (and the source of my observations here). By
coincidence, the moving documentary <a href="https://watermanthemovie.com/" rel="nofollow" target="_blank"><i>Waterman</i></a>,
based on Davis’ book, premiered in theaters in April. I saw it on opening day.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In Hawaii Regina
and I were frequently greeted with “aloha,” and people used “mahalo” to say
“thank you.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As an
official greeter of visiting dignitaries (including President John F. Kennedy)
and global ambassador for Hawaiian culture, Kahanamoku spent his life spreading
the spirit of aloha.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Davis
writes that Kahanamoku “suffused” visitors “with aloha because he believed that
promoting Hawaii was beneficial for fellow Hawaiians.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFC--h2ox_HsGl9vyeEQAmi39j7hsq4DIC7NTQ-lR2BU7dBD-wkSIqHIVRlQ7oyxcQhk0zbYvo_n113_q9XPiaCfRI0LFGV2aswOQQB4-aESVX1eqTKiJZ0oa44xmSJ6gxLGfaaPKBgzMIlN20ZNCsl6zr50iH76AAL64ShcMKLQr1HgwhIQs/s1280/Regina-Luau.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1280" data-original-width="960" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFC--h2ox_HsGl9vyeEQAmi39j7hsq4DIC7NTQ-lR2BU7dBD-wkSIqHIVRlQ7oyxcQhk0zbYvo_n113_q9XPiaCfRI0LFGV2aswOQQB4-aESVX1eqTKiJZ0oa44xmSJ6gxLGfaaPKBgzMIlN20ZNCsl6zr50iH76AAL64ShcMKLQr1HgwhIQs/w300-h400/Regina-Luau.jpeg" width="300" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Regina Serbin at <a href="https://chiefsluauhawaii.com/" rel="nofollow" target="_blank">Chief's Luau</a> with flowers presented in celebration of our 30th wedding anniversary (photo by Gene Veritas)</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Kahanamoku
printed his personal philosophy on his business card:</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">In
Hawaii we greet friends, loved ones or strangers with ALOHA, which means with
love. ALOHA is the key word to the universal spirit of real hospitality, which
made Hawaii renowned as the world’s center of understanding and fellowship. Try
meeting or leaving people with aloha. You’ll be surprised by their reaction. I
believe it, and it is my creed.</span></i></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">(I have also
frequently encountered sincere hospitality in my years of traveling and residing in Brazil
and other Latin American countries.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Although highly
competitive in athletic contests, Kahanamoku’s embodiment of aloha gained him a
reputation as a humble victor and cooperative teammate. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">He refused
to respond to the many racist epithets he endured. He suppressed his feelings
when personally attacked or taken advantage of by others so much that he
developed ulcers.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Nevertheless,
with his athletic prowess and aloha, Kahanamoku entered areas of society
normally reserved for whites.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As Davis
observes, “Many years before nonwhite athletes like Joe Louis, Jesse Owens, and
Jackie Robinson fought racism with courageous performances, Kahanamoku was a
groundbreaking figure who was able to overcome – some would say transcend –
racism.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">The
wisdom of a waterman and his people</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For Native
Hawaiians, Kahanamoku’s plight symbolized the unwanted but steamroller-like annexation
of the independent nation by the U.S. (in 1893); the adulteration of the
environment by settlers from the mainland; the imposition of mainland culture
and language on the locals; and, ultimately, the commercialization of society
in favor of tourism, plantation agriculture, and the establishment of Hawaii as
a major military installation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
words of another fine documentary, Hawaii is a <a href="https://www.youtube.com/watch?v=-tw4CyxBJEQ" rel="nofollow" target="_blank">“stolen paradise.”</a></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Not
surprisingly, Kahanamoku’s extended family retained no ownership in Duke’s
Waikiki, which expanded to include restaurants on two other Hawaiian islands
and also in three California coastal cities.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Despite
this history, Hawaii fortunately has maintained much of its connection to
nature and cultural traditions. With aloha and their intimate ties to the land
and water, Kahanamoku and his fellow Native Hawaiians (along with natives
elsewhere) offer a connection to premodern humanity and the importance of
solidarity.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">That
spirit resonates with the <a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">fight for human well-being</a> fundamental to the
Huntington’s cause</span><span style="font-family: "Times New Roman",serif;">. As I <a href="https://twitter.com/geneveritas" rel="nofollow" target="_blank">tweeted</a>
in March, “Fortitude, collaboration of #HuntingtonsDisease movement embody
opposite of aggression of war in @Ukraine: caregiving, alleviation of
suffering, and harnessing of science for cures. #IStandWithUkraine.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A
“waterman,” Kahanamoku felt most at home in the sea, the source of life and the
substance inhabiting our inner parts.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In a time
of global warming, political strife, and warfare, the world has much to learn
from the wisdom of aloha and Hawaiians’ immersion in nature.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzpvbA37wUDzqQPAnRXq8VMBchurhraEAqhNyTVttmc_86dnkjvRiEJkVN86FJHZ004qJlgKCc7W9YZmMfJLaM6UeloILgCl27tik6qK__-NRXA2wVuAUZ2y1YbOISIhVIQaDKNFxp8u9GINPtIEorcAIqAfR0hV7aubYGAvQ_5G4Pi__qXWA/s1280/GV-Regina-Waikiki.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="1280" height="300" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzpvbA37wUDzqQPAnRXq8VMBchurhraEAqhNyTVttmc_86dnkjvRiEJkVN86FJHZ004qJlgKCc7W9YZmMfJLaM6UeloILgCl27tik6qK__-NRXA2wVuAUZ2y1YbOISIhVIQaDKNFxp8u9GINPtIEorcAIqAfR0hV7aubYGAvQ_5G4Pi__qXWA/w400-h300/GV-Regina-Waikiki.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Kenneth and Regina Serbin with Waikiki Beach and Diamond Head volcanic cone in the background (family photo)<br /></span></i></p><br /><span style="font-family: "Times New Roman",serif;"> </span>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Negotiating
the waves of life</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Modern
surfing emerged from Hawaii. The greatest surfer of his time and global
popularizer of the activity, Kahanamoku did not see it as a sport. It was about
his love for, and relationship with, the sea. And about pure fun. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“The best
surfer out there is the one having the most fun,” he said. After World War II,
with the worldwide explosion in surf culture, competitions, and surfboard
technologies, Kahanamoku marveled at – and was deeply proud of – how it took
hold. He <i>did</i> want to see it included in the Olympics, which finally
occurred in the 2020 games.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I tried
surfing once in my 20s but did not pursue it. At 62 and still healthy, and with
the example of Kahanamoku, I have thought of perhaps trying again, if I can
find a patient instructor! </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">More
importantly, Dr. Gollop’s advice rings true: to stave off Huntington’s onset, I
need to keep doing what I like – including exploring Hawaiian culture and
history.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
thought of Kahanamoku flawlessly negotiating the waves on his board also
reminds me of the need – with aloha – to find in life <a href="https://curehd.blogspot.com/2012/01/to-strive-or-to-chill-seeking-balance.html" rel="nofollow" target="_blank">“the right balance between striving and chilling.”</a></span><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This week
I am balancing my disappointment over a professional roadblock with the joyous celebration
of <a href="https://curehd.blogspot.com/2021/11/a-proud-huntingtons-disease-gene.html" rel="nofollow" target="_blank">Bianca’s graduation</a> from the University of Pennsylvania</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I hope that
those of us in the Huntington’s community and beyond can all learn to surf
through life like Duke Kahanamoku – and always with aloha.<i> </i></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgE3Gr9Mu79UW7yLP9jo4Cz1Vd8K_QH0N83vudmeZQfw1kg4OFyt8EfuO9vLYesHYtTqfeOO8zr_XAnsNR_2SfDpIOgqGMyPxCFfRA2jkQJlCG_8_FmxZ_gUumVf08dcSgXbEjUvlzEkYWYMXgukCzV85HFWh5l2tjS7SqM27Ps1iW-LvVQy0w/s2970/Bianca-Graduation.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2970" data-original-width="2230" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgE3Gr9Mu79UW7yLP9jo4Cz1Vd8K_QH0N83vudmeZQfw1kg4OFyt8EfuO9vLYesHYtTqfeOO8zr_XAnsNR_2SfDpIOgqGMyPxCFfRA2jkQJlCG_8_FmxZ_gUumVf08dcSgXbEjUvlzEkYWYMXgukCzV85HFWh5l2tjS7SqM27Ps1iW-LvVQy0w/w300-h400/Bianca-Graduation.jpeg" width="300" /></a></div><br /><i>Regina (left), Bianca, and Kenneth Serbin during graduation weekend at the University of Pennsylvania in Philadelphia (family photo)</i><span style="background: white; color: #222222; font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"></span><p></p>
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{page:WordSection1;}</style> <br /></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-59771058948008131242022-04-11T12:32:00.006-07:002022-04-11T13:23:39.754-07:00CHDI keynoter Charlotte Raven reflects on her fight against Huntington’s disease and the dashed hopes of a clinical trial<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Like many
affected by Huntington’s disease, renowned British journalist <a href="https://www.theguardian.com/profile/charlotteraven" rel="nofollow" target="_blank">Charlotte Raven</a></span><span style="font-family: "Times New Roman",serif;"> longed for the chance to
participate in a clinical trial of a potential treatment for the incurable
disorder.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte
was diagnosed with Huntington’s in 2005. She inherited the genetic mutation
from her father, who, after a long battle, died from HD in 2016. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In 2019 Charlotte
had her wish fulfilled in London. As part of its HD clinical trial program to
evaluate the efficacy of tominersen – the historic first attempt to attack the
disease at its genetic roots – the pharmaceutical giant <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a>
was recruiting volunteers for <a href="https://www.gene.com/media/press-releases/14902/2021-03-22/genentech-provides-update-on-tominersen-" rel="nofollow" target="_blank">GEN-PEAK</a>,
a small, Phase 1 study run in tandem with the larger, main, Phase 3 study.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte
became “patient 1,” the first individual in GEN-PEAK to receive tominersen. If
successful, the main trial would result in all participants in the program,
including GEN-PEAK volunteers, receiving the treatment. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In her keynote
speech at the recent 17th Annual <a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">HD Therapeutics Conference</a>,
Charlotte recalled the immense hope she felt about tominersen, shared by HD
families around the globe: “Ever since I’d been picked to be on the trial, I’d
woken up every morning thinking about the drug. It was like being in love. It
was what I needed, wanted, looked forward to.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A
heartrending presentation</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Those
hopes were dashed on March 22, 2021, with Roche’s announcement that it was
halting dosing of tominersen because of <a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank">unfavorable efficacy data</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Now that
pinprick of light had been blacked out,” Charlotte told the 300 researchers,
biopharma executives, and advocates gathered at the conference, held in Palm
Springs, CA, and sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation</a>,
the nonprofit virtual biotech firm dedicated to developing HD therapies. “The
world ended again; it felt exactly the same as the moment of my original
diagnosis.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Struggling
with HD symptoms and assisted by her twelve-year-old son John, Charlotte bravely
delivered a heartrending presentation, reading from a computer screen. Because
Charlotte’s speech is slurred, the audience was provided access to an online
script. She received a standing ovation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Despite
the bad news of 2021, drug hunters expressed renewed optimism about potential therapies.
As reported in my <a href="https://curehd.blogspot.com/2022/03/after-difficult-year-for-huntingtons.html" rel="nofollow" target="_blank">previous article</a></span><span style="font-family: "Times New Roman",serif;">, the ensuing three days of
scientific talks focused on multiple approaches. Indeed, Roche said it would test
tominersen again in an improved clinical trial.</span></p>
<p class="MsoNormal"><br /></p><p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgJoAYj2VIHKVRXBADTV71bX2CzVa2DjYW5EkB_0_HhFmlAvzODyHSQH3UiKQ4npUdnx-UCE8sex5QomEG0iASWUfyqM4aBdZecNnWCoTo--EctmKkDflg3ytQXSr0AaNYpwn0B3oUI5xlMlaLU8D9Bt1ZSRZ4dVvkFtPtRqPFLQuSKwNrN8Ts/s1280/Charlotte-John-CloseupA.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1280" data-original-width="1025" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgJoAYj2VIHKVRXBADTV71bX2CzVa2DjYW5EkB_0_HhFmlAvzODyHSQH3UiKQ4npUdnx-UCE8sex5QomEG0iASWUfyqM4aBdZecNnWCoTo--EctmKkDflg3ytQXSr0AaNYpwn0B3oUI5xlMlaLU8D9Bt1ZSRZ4dVvkFtPtRqPFLQuSKwNrN8Ts/w320-h400/Charlotte-John-CloseupA.jpeg" width="320" /></a></div><i> </i><p></p><p><i>Assisted by son John, Charlotte delivers her keynote address (photo by Gene Veritas,
aka Kenneth P. Serbin).</i></p><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">‘Feeling
your personality crumble’</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte’s
keynote traced her career as an ambitious and controversial journalist and
social commentator, her family’s fight against HD, and her efforts to cope with
the symptoms and resulting limitations on her work and life.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The speech
echoed Charlotte’s book <a href="https://www.penguin.co.uk/books/1119389/patient-1/9781787332331.html" rel="nofollow" target="_blank"><i>Patient 1: Forgetting and Finding Myself</i></a>,
published last November. CHDI gave each conference attendee a copy. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In <i>Patient
1</i>, Charlotte provides a detailed, hauntingly beautiful portrait of the
challenges posed by HD to both her and her extended family. Writing with help
from her brother Daniel, as yet untested for the mutation, Charlotte intimately
describes the toll HD has taken on her, robbing her of her memories and
producing crippling anxiety.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I wanted
this book to be an accurate record of what it is like to exist with HD and to
feel your brain and personality crumble,” Charlotte writes.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">It also includes
the first published account of the Roche program from a patient perspective.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">‘A new
leaf of hope’</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">During her
CHDI keynote, to rest, Charlotte took two short
breaks.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
first interlude, with Charlotte looking on, her daughter Anna, 17, took the
stage to speak of the special bond she has developed with her mother because of
HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Growing up
under the shadow of Huntington’s has meant I’m often not the only priority, and
sacrifices need to be made to make sure that my mom is properly looked after,”
said Anna, who helps care for her mother.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Untested,
both Anna and John have a 50-50 chance of inheriting the HD mutation. HD
genetic testing protocols recommend against testing before age 18.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Seeing
and hearing about all these people working and researching to find treatments
amazes me every day and makes everything seem a little less bleak,” Anna said.
“The future for me, my brother, and my mom is unknown, but we have a new leaf
of hope, and for that I would like to say thank you from the bottom of my
heart.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In the
second interlude, Charlotte’s neurologist and clinical trial physician, <a href="https://edwild.com/" rel="nofollow" target="_blank">Ed Wild, M.D., Ph.D.,</a></span><span style="font-family: "Times New Roman",serif;"> described her intellectual
mettle. Dr. Wild wrote the Afterword to <i>Patient 1.</i> At the conference, he
also recalled how “injecting </span><span lang="EN-GB" style="font-family: "Times New Roman",serif; mso-ansi-language: EN-GB;">120 milligrams of tominersen into Charlotte’s
spine in 2019” was one of his “proudest moments” in his career of helping HD
patients.</span></p>
<p class="MsoNormal"><span lang="EN-GB" style="font-family: "Times New Roman",serif; mso-ansi-language: EN-GB;"> </span></p>
<p class="MsoNormal"><span lang="EN-GB" style="font-family: "Times New Roman",serif; mso-ansi-language: EN-GB;">Watch the entire keynote presentation in the video
below, which includes the option of closed captioning.<br /></span></p>
<p class="MsoNormal"><span lang="EN-GB" style="font-family: "Times New Roman",serif; mso-ansi-language: EN-GB;"> </span></p>
<p class="MsoNormal"><span lang="EN-GB" style="font-family: "Times New Roman",serif; mso-ansi-language: EN-GB;"><iframe allow="autoplay; fullscreen; picture-in-picture" allowfullscreen="" frameborder="0" height="240" src="https://player.vimeo.com/video/698041962?h=36fe4045d4&badge=0&autopause=0&player_id=0&app_id=58479" title="Charlotte Raven&#039;s heartfelt reflections on her fight against Huntington&rsquo;s disease" width="426"></iframe><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">The best
team for defeating HD</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte finished
the speech with a tribute to researchers and a reflection on how confronting HD
has “humbled me, and helped me connect more with the people around me, which is
a new skill that I’ve been working on with commitment and persistence.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“GEN-PEAK
may have turned out to be a blind alley, but it was still a step on the journey
towards a cure, and I still feel proud to have been part of it,” she said. “I’ve
lived a fairly selfish life in lots of ways, so it seems oddly fitting that
this last thing I did to save myself, might end up saving others instead.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte
noted an irony: she could write <i>Patient 1</i>, with its portrayal of HD's impact, only because the disease had mentally
“compromised” her.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I feel
like I’ve finally been able to portray my family and friends as they really are
instead of as I’d like them to be,” she added. “They are coming to life.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">She
concluded: “Anna and I cannot get over how HD is such a rare disease, yet
somehow attracts so many of the world’s brightest and best scientists. In my
complicated journey with empathy, this is the most striking gift I can imagine.”</span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-3687583532353089872022-03-09T20:52:00.002-08:002022-04-15T15:53:49.570-07:00After a difficult year for the Huntington’s disease cause, CHDI chief scientist feels ‘reinvigorated’ and ‘optimistic’ about quest for therapies<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Having
faced negative results in two key clinical trials a year ago while battling the
coronavirus pandemic, the Huntington’s disease community has renewed the quest
for therapies (treatments).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A vital
sign of this: despite initial fears about the omicron variant of COVID-19, the
17th Annual HD Therapeutics Conference took place from February 28-March 3 at
the <a href="https://www.parkerpalmsprings.com/" rel="nofollow" target="_blank">Parker Palm Springs</a> hotel in
Palm Springs, CA. The 305 fully vaccinated attendees gathered under a massive
tent, which allowed social distancing and provided good ventilation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Shortly
after the March 2020 conference, much of the world went on <a href="https://curehd.blogspot.com/2020/03/in-times-of-crisis-huntingtons-and.html" rel="nofollow" target="_blank">lockdown</a> to avoid the
ravages of the virus</span><span style="font-family: "Times New Roman",serif;">, pushing the 2021 conference <a href="https://curehd.blogspot.com/2021/04/roche-confirms-tominersen-as.html" rel="nofollow" target="_blank">online</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I don't
think it's hyperbole to say that coming here for this conference in person
feels like a rebirth,” said Robert Pacifici, Ph.D., in a half-hour interview
with me on March 4. “It's been a hard couple of years for everybody, but for
the Huntington's disease community in particular.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Pacifici is the chief scientific officer of the conference sponsor, <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation</a>, the nonprofit virtual biotech
entity geared solely towards finding HD therapies. CHDI is the largest private
funder of HD research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In March
2021, the community “learned that two of the really well thought-out and very
rational clinical trials for Huntington's disease had been halted and it <a href="https://curehd.blogspot.com/2021/04/overcoming-heartbreaking-moment-for.html" rel="nofollow" target="_blank">dashed
a lot of people's hopes</a></span><span style="font-family: "Times New Roman",serif;">,” recalled Dr. Pacifici, referring to GENERATION HD1,
the largest clinical trial in HD history, run by Roche, and two smaller trials
with a similar drug run by Wave Life Sciences</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Those
results “must have been devastating” for people awaiting an “efficacious treatment,”
Dr. Pacifici continued. “But we do what the Huntington's community always does:
we persevere, we lift ourselves up by our bootstraps, and we go forward.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Witnessing
a “bunch of reasons” for hope about therapies at the conference, Dr. Pacifici
declared, “I'm reinvigorated and very optimistic.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For an
overview of the conference and my interview with Dr. Pacifici, watch the video
below.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><iframe allow="autoplay; fullscreen; picture-in-picture" allowfullscreen="" frameborder="0" height="270" src="https://player.vimeo.com/video/685717836?h=46b9298b64" width="480"></iframe><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><span style="font-family: "Times New Roman",serif;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEhG_bWgWllfK1xAc_NPlo-JSMMoinXKGOHfTmNug0OPqxPMF2PYJmLGhwdSsc9ed6mspnU-Sy9Nex6OBaTh5Qm2R7-9IlUKIBO-18tKT3OXBAyzUzpeIkpyb0RTmeHKMtUZ0E7ozoWsBBdFoL9jdrGBB24vbgneYm27cMEHOH9xRa6sZhF2BNE=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="908" data-original-width="1280" height="284" src="https://blogger.googleusercontent.com/img/a/AVvXsEhG_bWgWllfK1xAc_NPlo-JSMMoinXKGOHfTmNug0OPqxPMF2PYJmLGhwdSsc9ed6mspnU-Sy9Nex6OBaTh5Qm2R7-9IlUKIBO-18tKT3OXBAyzUzpeIkpyb0RTmeHKMtUZ0E7ozoWsBBdFoL9jdrGBB24vbgneYm27cMEHOH9xRa6sZhF2BNE=w400-h284" width="400" /></a></span></div><span style="font-family: "Times New Roman",serif;"><br /><i>Above, HD Therapeutics Conference attendees view scientific posters presenting new research, and, below, watch one of the many presentations at the four-day event (photos by Gene Veritas, aka Kenneth P. Serbin).</i><br /></span><p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> <br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><span style="font-family: "Times New Roman",serif;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEjLDimcAxcnyB0BcVbqNYSYXetZ5VJGRvq2692Xf3KZ3KDq7qjYbyXfxjhnKXcIcj--Rv88ZK0nCPlYxXBjjEUEfRQa4z9mWODxBGgU3oBAqyqqaAPvdl8ukY_KFY6yDfPaU5T9j6v1qRLVmHgPda_jvDk94R4Jfda_b_P1_edCGzR6RLZYAOU=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="841" data-original-width="1280" height="263" src="https://blogger.googleusercontent.com/img/a/AVvXsEjLDimcAxcnyB0BcVbqNYSYXetZ5VJGRvq2692Xf3KZ3KDq7qjYbyXfxjhnKXcIcj--Rv88ZK0nCPlYxXBjjEUEfRQa4z9mWODxBGgU3oBAqyqqaAPvdl8ukY_KFY6yDfPaU5T9j6v1qRLVmHgPda_jvDk94R4Jfda_b_P1_edCGzR6RLZYAOU=w400-h263" width="400" /></a></span></div><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Learning
from last year’s setbacks</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At the
Therapeutics Conference, Roche elaborated on new data from GENERATION HD1 and its
plans to develop an improved clinical trial. Wave provided an update on its new
early-stage trial, SELECT-HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Both firms
use gene silencing drugs to attempt to reduce the amount of the toxic
huntingtin protein in the brain (called huntingtin lowering). Both seek to
build on the lessons learned from the 2021 setbacks. <span style="mso-spacerun: yes;"> </span>(<a href="https://curehd.blogspot.com/2022/01/after-setback-roche-to-run-new-clinical.html" rel="nofollow" target="_blank">Click here</a></span><span style="font-family: "Times New Roman",serif;"> to read about Roche’s recent announcement
and <a href="https://ir.wavelifesciences.com/news-releases/news-release-details/wave-life-sciences-reports-fourth-quarter-and-full-year-2021" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> about Wave’s new trial.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I'm
heartened that there's still a lot of enthusiasm for the huntingtin-lowering approach,”
Dr. Pacifici observed. “There's actually a very impressive portfolio of other
companies, therapeutic modalities, and approaches to huntingtin-lowering.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Other plans
to attack the mutant protein</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><a href="https://www.ptcbio.com/" rel="nofollow" target="_blank"><span style="font-family: "Times New Roman",serif;">PTC Therapeutics</span></a><span style="font-family: "Times New Roman",serif;"> and <a href="https://www.novartis.com/news/novartis-receives-fda-fast-track-designation-branaplam-lmi070-treatment-huntingtons-disease" rel="nofollow" target="_blank">Novartis Pharmaceuticals</a></span><span style="font-family: "Times New Roman",serif;"> presented updates on their respective
ongoing clinical trials using different huntingtin-lowering approaches. Whereas
Roche and Wave drugs were administered via an uncomfortable spinal tap done at
a clinic, PTC and Novartis use so-called small molecules: pills.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Besides
the obvious convenience, such small-molecule drugs offer other key advantages,
Dr. Pacifici explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“We know
that mutant huntingtin is expressed everywhere [in the body] and so it’s good
to know that you can lower it everywhere with a small molecule,” he said,
noting that dosages can then be calibrated to achieve different lowering
effects.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A higher
dose creates more lowering, while a lower dose lessens it, Dr. Pacifici
explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“From a
safety perspective, if we ever found a long-term problem with huntingtin
lowering, you can stop taking the compound and let the huntingtin come back so
that then you can decide,” he continued, referring to a practice called picket-fence
dosing, in which patients stop and restart dosing as needed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Triplet
gears up to test its approach</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With no
guarantee that reducing the toxic protein will result in an effective
treatment, the Huntington’s field has <a href="https://curehd.blogspot.com/2019/10/as-range-of-possible-therapies-grows.html" rel="nofollow" target="_blank">purposefully diversified</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A key
example is the work of <a href="https://www.triplettx.com/" rel="nofollow" target="_blank">Triplet Therapeutics</a></span><span style="font-family: "Times New Roman",serif;">. Triplet focuses on somatic expansion
(also known as somatic instability), the tendency in HD of the already expanded
(and therefore mutant) huntingtin gene to continue growing in length with age. The
greater the expansion, the earlier the impact of the mutation on brain cells. This
process is governed by recently discovered modifier genes that slow or hasten
disease onset. (Click <a href="https://curehd.blogspot.com/2020/10/triplet-therapeutics-aims-to-transform.html" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> and <a href="https://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> to read more.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“That's
what actually causes the cells to malfunction, to die, and eventually leads to
the underlying physiology of Huntington's,” Dr. Pacifici said. “So, not
surprisingly, that gives us another therapeutic handle. Can we slow down that
somatic instability?”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At the
conference, two Triplet scientists presented a preliminary analysis of data
from SHIELD-HD, a research study of 70 presymptomatic and early-disease-stage
carriers of the HD mutation. SHIELD-HD is furnishing data for a clinical trial of Triplet's drug candidate, TTX-3360, aimed at blocking somatic
expansion and, therefore, potentially delaying or avoiding HD onset.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><span style="font-family: "Times New Roman",serif;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEiqdSvsr8iWYkYLVTWiqKon5dmZXXkJsSOTFQ6drlxjFRjr0yrHVzvnWZFUeYy8Z1HsHWHaI3RbuP8DFyRUgcZbqc47TDnQickm-NLC5iE24Ohqvvu5MpmiqSw9e_t_g8xrZ-84ZJgzmtd9yq0BWgl67vDzdo45AZ1JIU2wky02EFxjZ9z4r7o=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1220" data-original-width="1280" height="381" src="https://blogger.googleusercontent.com/img/a/AVvXsEiqdSvsr8iWYkYLVTWiqKon5dmZXXkJsSOTFQ6drlxjFRjr0yrHVzvnWZFUeYy8Z1HsHWHaI3RbuP8DFyRUgcZbqc47TDnQickm-NLC5iE24Ohqvvu5MpmiqSw9e_t_g8xrZ-84ZJgzmtd9yq0BWgl67vDzdo45AZ1JIU2wky02EFxjZ9z4r7o=w400-h381" width="400" /></a></span></div><span style="font-family: "Times New Roman",serif;"><br /><i>Triplet Therapeutics scientists Irina Antonijevic, M.D., Ph.D., the chief medical officer (right), and Peter Bialek, Ph.D., senior director of translational science, after their presentation at the HD Therapeutics Conference (photo by Gene Veritas)</i><br /></span><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Founded in
2018, Triplet has used the science of somatic expansion and HD modifier genes
to move with “record-breaking speed” towards a clinical trial, Dr. Pacifici said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In a brief
interview after the Triplet presentation, Irina Antonijevic, M.D., Ph.D., the
company’s chief medical officer, confirmed that it will file a Clinical Trial Application this summer for permission to start a Phase 1 dose escalation clinical trial of TTX-3360, mainly to test safety and tolerability.
Regulatory agencies can take a few months to review the application, after which
the firm could start recruiting people with HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“We’re
very excited,” Dr. Pacifici said. “The whole area of somatic instability is a
great complement to huntingtin lowering. It's possible that eventually, if God
forbid, huntingtin lowering turns out not to be viable, we've got a great
backup plan. But even if it is, these things could actually synergize with each
other. I could imagine people in the future being treated with a combination of
therapies that address both of these things – lowering the huntingtin protein, but
also preventing additional somatic instability.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A future
article will explore the SHIELD-HD presentation and Triplet’s clinical trial
plans.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">The
value of family participation</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Most of
the conference presentations focused on human data, as opposed to research in
animals. Dr. Pacifici pointed out that many advances in HD research result from
the participation of thousands of gene carriers in studies and clinical trials.
</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I
appreciate that families are willing to give their time, their blood, their
urine, and the travel, the poking, the prodding they're going through,” Dr.
Pacifici said. “I want to express my heartfelt gratitude. This year, more than
ever, I guess I'm happy to say I told you so, meaning that I always encourage
people to participate and we're now seeing the fruits of that participation. We
now have the evidence that those samples are being used judiciously and are
providing unparalleled value.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Pacifici also pointed to the steadfast commitment of both scientists and
families to HD research during the pandemic, which “required people taking risk
and going into the clinics and the labs.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Hang in
there, be resilient, participate when you can,” Dr. Pacifici concluded, because
a “really talented, committed global group of passionate drug discovery
professionals would love nothing more than to deliver what you need so
desperately, which are effective treatments for Huntington's disease.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">For my
coverage of the start of the conference, <a href="https://curehd.blogspot.com/2022/02/history-huntingtons-disease-and.html" rel="nofollow" target="_blank">click here</a></span></i><i><span style="font-family: "Times New Roman",serif;">.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">For
additional coverage, visit <a href="https://en.hdbuzz.net/" rel="nofollow" target="_blank">HDBuzz</a>.</span></i><span style="font-family: "Times New Roman",serif;"></span></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-59302840312436756492022-02-28T23:54:00.010-08:002022-03-01T12:20:48.643-08:00History, Huntington’s disease, and the survival of the human race<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With
thousands of people continuing to die from the COVID pandemic and the planetary
climate crisis worsening, the Russian attack on Ukraine and the dictatorial
Vladimir Putin’s threats of <i>nuclear war</i> have brought the world to a
turning point.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Either we strive
to end war or, by failing to unite globally to solve environmental and health
challenges, we risk destroying ourselves. From biological history we know that
millions of species have gone extinct. No one but us prevents our extinction, as well.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The war has
produced searing images of Ukrainian families living underground or fleeing
their country by the hundreds of thousands.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">While the
U.S., the North Atlantic Treaty Organization (NATO) countries, and many other
key nations have sought to counteract Putin’s actions without sending in troops,
around the world citizens and governments have protested and shown solidarity
with the Ukrainian people.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I drove
yesterday from my home in San Diego to Palm Springs, CA, for the 17th Annual Huntington’s
Disease Therapeutics Conference, I thought once again of how the quest for
effective treatments for this devastating disease has embodied <a href="https://curehd.blogspot.com/2020/05/in-pandemic-we-need-to-rediscover.html" rel="nofollow" target="_blank">fortitude and collaboration</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Along the
way I listened to <i>The Tipping Point</i>, the new, long-awaited album by
<a href="https://tearsforfears.com/" rel="nofollow" target="_blank">Tears for Fears</a>, one of my favorite bands,
and pondered the poignant interview they gave about their album’s <a href="https://www.npr.org/2022/02/26/1083283251/staple-80s-band-tears-for-fears-is-back-on-the-scene-after-17-years" rel="nofollow" target="_blank">relevance</a> to
the present moment.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">What I
have termed the <a href="https://curehd.blogspot.com/2021/03/blog-article-no-300-who-exactly-is-gene.html" rel="nofollow" target="_blank">“Huntington’s disease movement”</a></span><span style="font-family: "Times New Roman",serif;"> has highlighted caregiving, the alleviation
of physical and mental suffering, and the harnessing of science for societal good.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">These
sentiments are especially appropriate at the start of the conference, February 28, <a href="https://www.rarediseaseday.org/" rel="nofollow" target="_blank">Rare Disease Day</a>.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEhvEkRbONdiS5SokrwvZui2ZvHFC1-zZpTHakXbkgX2_Yqvq0jePDKkm6XZCvFBjuDW5Xz2XuIzoRYPJl5UCgquw_yU7QAonO2vDAlQDHp7k9rkWRmQMsAYaupZOnazpTo7iS-sgXObp7eGo8CV6zf-DF3L-al3rA7ZQq6zJeOxU3lahYapXBs=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="852" data-original-width="1280" height="266" src="https://blogger.googleusercontent.com/img/a/AVvXsEhvEkRbONdiS5SokrwvZui2ZvHFC1-zZpTHakXbkgX2_Yqvq0jePDKkm6XZCvFBjuDW5Xz2XuIzoRYPJl5UCgquw_yU7QAonO2vDAlQDHp7k9rkWRmQMsAYaupZOnazpTo7iS-sgXObp7eGo8CV6zf-DF3L-al3rA7ZQq6zJeOxU3lahYapXBs=w400-h266" width="400" /></a></div><p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><br /></span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>HD Therapeutics Conference keynote speaker and journalist Charlotte Raven (seated) and, from left to right, Dr. Ed Wild, Charlotte's daughter Anna, and son John, February 28, 2022 (photo by Gene Veritas, aka Kenneth P. Serbin). Read more below about Charlotte's heartrending but brave presentation.</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Writing
the history of the HD movement</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As an HD
mutation carrier and advocate, I have shifted my focus as a professional
historian from the country I consider my second home, <a href="https://undpress.nd.edu/9780268105860/from-revolution-to-power-in-brazil/" rel="nofollow" target="_blank">Brazil</a>,
to the history of science, technology, and medicine.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">On January
31, I submitted an application for a grant to support new research for a book
to be titled “Racing Against the Genetic Clock: A History of the Huntington’s
Disease Movement and the Challenges of the Biomedical Revolution.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Huntington’s
disease research stands at the forefront of the biomedical revolution,” I wrote
in the application. “The search for the huntingtin gene, finally achieved in
1993, contributed to the concept of the Human Genome Project. Huntingtin was
one of the first disease-causing genes discovered. Yet, thirty years later, the
experience of living with Huntington’s has not changed dramatically.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In this
project, building on my quarter-century of advocacy and tracking of scientific
progress, I will seek to chronicle and interpret the HD movement in the period
since the huntingtin breakthrough.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A visit
with scholar Alice Wexler</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">To gather
documentation and exchange ideas about the project, on February 21 I traveled
to Santa Monica, CA, to meet with the preeminent historian of HD, Alice Wexler,
Ph.D., the sister of Nancy Wexler, Ph.D., a key figure in the search for the
huntingtin gene.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Alice
Wexler wrote <a href="https://www.ucpress.edu/book/9780520207417/mapping-fate" rel="nofollow" target="_blank"><i>Mapping Fate</i></a></span><span style="font-family: "Times New Roman",serif;">, the key historical account about
the discovery of the gene. She also authored <a href="https://yalebooks.yale.edu/book/9780300158618/woman-who-walked-sea" rel="nofollow" target="_blank"><i>The Woman Who Walked into the
Sea</i></a>,
which describes the of development of medical understanding of HD in the 20th century
and the stigma and discrimination associated with the disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
October, Columbia University Press will publish her latest work, <a href="https://cup.columbia.edu/book/the-analyst/9780231554718" rel="nofollow" target="_blank"><i>The Analyst</i></a></span><span style="font-family: "Times New Roman",serif;">, a memoir of her late father Milton
Wexler. A psychoanalyst, he founded the <a href="https://www.hdfoundation.org/our-story" rel="nofollow" target="_blank">Hereditary Disease Foundation</a>
(HDF) in 1968 after his wife Leonore was diagnosed with HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Until the
early 2000s, the HDF was the main private funder of HD science. From her
personal archive, Dr. Wexler provided me with HDF newsletters, scientific
reports, and other important documents. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr. Wexler
also shared with me news clippings and other documents related to the HD
movement.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Over lunch
and then on a long walk along the Santa Monica beach, Dr. Wexler and I bonded
over stories of our beloved Latin America (she, too, began her career studying
that region), our families’ respective fights against HD, and my goal of
building on her work as I embark on my new research.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEg9JBq5S4q2TmZTYxU5SPNSntkOLj-2S1QDDIbTIYvIqMdlCfB8qnC5HKzoBHP2NwtMdN5rRd1ySU8e0ENoXnDfgtALnPr3meU-ZAlDrOrJ5U2eBTNFM8XJKktvJydyz8gevUw8z9nj-k1ZTi66RbdyKnkHpL_9o40yT9y37ZFqPQrAszuZVYk=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1280" data-original-width="1111" height="400" src="https://blogger.googleusercontent.com/img/a/AVvXsEg9JBq5S4q2TmZTYxU5SPNSntkOLj-2S1QDDIbTIYvIqMdlCfB8qnC5HKzoBHP2NwtMdN5rRd1ySU8e0ENoXnDfgtALnPr3meU-ZAlDrOrJ5U2eBTNFM8XJKktvJydyz8gevUw8z9nj-k1ZTi66RbdyKnkHpL_9o40yT9y37ZFqPQrAszuZVYk=w348-h400" width="348" /></a></div><br /><i>Alice Wexler and Gene Veritas, aka Kenneth P. Serbin, in Santa Monica, CA, February 21, 2022 (personal photo)</i><p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> <br /></span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">My
eleventh CHDI meeting</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This will
be my eleventh HD Therapeutics Conference, which is sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation</a></span><span style="font-family: "Times New Roman",serif;">, the nonprofit virtual biotech firm that
grew out of the HDF and is dedicated solely to developing HD therapies. I
<a href="https://vimeo.com/19906160" rel="nofollow" target="_blank">keynoted</a></span><span style="font-family: "Times New Roman",serif;"> the 2011 meeting. Because of the
pandemic, the 2021 conference was held online. This year the conference will
take place in person at its traditional location, the <a href="https://www.parkerpalmsprings.com/" rel="nofollow" target="_blank">Parker Palm Springs</a></span><span style="font-family: "Times New Roman",serif;">, but under a tent on one of the
hotel’s large lawns instead of inside.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As a
pre-meeting reception on February 27 held by CHDI at the <a href="https://www.provenancehotels.com/villa-royale" rel="nofollow" target="_blank">Villa Royale</a>,
I saw many veterans of the CHDI staff. I also spent time telling a new CHDI researcher
staff member, who was attending her first Therapeutics Conference, about my
family’s HD story.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I also
conversed at length with <a href="https://www.vumc.org/neurology/person/daniel-claassen-md-ms" rel="nofollow" target="_blank">Daniel Claassen, M.D., M.S.</a>,
a professor of neurology at the Vanderbilt University Medical Center. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I was
thrilled to hear Dr. Claassen describe his experience of lecturing via Zoom to
about 150 Brazilian neurologists last year about Huntington’s disease, with the
assistance of a Portuguese-speaking interpreter.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Fighting
for human well-being</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">We also
discussed the unique interpretations that each HD family can develop about the
symptoms, especially in cases such as that involving my family, which had no prior knowledge
of HD before it struck my mother.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I recalled
for Dr. Claassen an especially painful moment from around Christmas of 1989. I
had been doing research in Brazil for well over a year and was very happy to
see my parents upon visiting their home in Ohio. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At one
point, I heard my mother on the phone crying and complaining to a friend that
she could not stand having me around.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At the
time, I attributed her reaction to moodiness. In retrospect, as Dr. Claassen
and I concluded, my mother’s reaction probably represented the start of the
psychiatric and behavioral disorders that are often the first HD symptoms to
appear. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My mother
was diagnosed with HD six years later, in 1995.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“It wasn’t
my mother’s fault!” I said with great sadness about her emotional difficulties.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At the
Therapeutics conference, we will all be renewing our commitment to defeat HD
and other neurodegenerative conditions.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For me,
this is our contribution to human well-being.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEidcP2pJPkoxprmo-vEhejylCovb_vGeW951qRzqhVS8Gq7vNoODtLWAxaf94wfYw46AmyCx_BCk1ymzkgkeV2DnXqaACQiIS4uihEarNyf6yP9z7pptRjNi2cNGETy_U1tsGXy1K1Fa5CqbBk-pr3NQqIuLtlJ6NNRk99C2uaWQFWIpbSrjbA=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1254" data-original-width="1280" height="393" src="https://blogger.googleusercontent.com/img/a/AVvXsEidcP2pJPkoxprmo-vEhejylCovb_vGeW951qRzqhVS8Gq7vNoODtLWAxaf94wfYw46AmyCx_BCk1ymzkgkeV2DnXqaACQiIS4uihEarNyf6yP9z7pptRjNi2cNGETy_U1tsGXy1K1Fa5CqbBk-pr3NQqIuLtlJ6NNRk99C2uaWQFWIpbSrjbA=w400-h393" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Dr. Daniel Claassen (left) and Gene Veritas (photo by Simon Noble, Ph.D., director, scientific communications, CHDI)</i> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Charlotte
Raven, a brave keynote speaker</span></b><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The conference
got under way the evening of February 28 with a profoundly moving presentation by keynote
speaker <a href="https://www.theguardian.com/profile/charlotteraven" rel="nofollow" target="_blank">Charlotte Raven</a>,
a renowned British journalist, commentator, and author whose work has appeared
in <i>The Guardian</i>, <i>New Statesman</i>, and <i>Modern Review</i>. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Charlotte is
affected by HD. She was the first participant in the Roche GEN-PEAK trial, a small
Phase 1 study run in tandem with the Roche Phase 3 GENERATION HD1 trial. These
trials sought to measure the effects of the gene silencing drug tominersen.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In March 2021,
Roche halted dosing in GENERATION HD1 because of lack of efficacy. In January,
Roche announced that it will start a new, less ambitious Phase 2 trial to test
tominersen’s efficacy (<a href="https://curehd.blogspot.com/2022/01/after-setback-roche-to-run-new-clinical.html" rel="nofollow" target="_blank">click here</a> to
read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Joined in
the presentation by her son John, daughter Anna, and her neurologist, Ed</span><span style="font-family: "Times New Roman",serif;"> Wild,
M.D., Ph.D., Charlotte spoke bravely about her struggles with HD. She echoed
the deep sadness and frustration of the HD community in the wake of the March 2021
news.</span>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With many of
the nearly 300 conference participants crying at the end, Charlotte received a standing
ovation. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche will
present two reports on its efforts on the conference’s final day, March 3.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A future
article will feature Charlotte’s story, including a video of her keynote.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEiR6t4Q4UNnsy5NyjzVI8rRHxZPj2Ho7eKArw94mGpDEgBSJqaNxs2SAnnfwFU4k1HUh6wHKL8zzvlkIFIfJPFB_a86j7j4VHZzG084HH2pBPUSVskS8fzUBIlCXsGMkvUj7MKPuZEEgJrVF4nZRfxhznlFbtacoP97Y5H3Zi-ldJTCA9bN2DY=s1280" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1240" data-original-width="1280" height="388" src="https://blogger.googleusercontent.com/img/a/AVvXsEiR6t4Q4UNnsy5NyjzVI8rRHxZPj2Ho7eKArw94mGpDEgBSJqaNxs2SAnnfwFU4k1HUh6wHKL8zzvlkIFIfJPFB_a86j7j4VHZzG084HH2pBPUSVskS8fzUBIlCXsGMkvUj7MKPuZEEgJrVF4nZRfxhznlFbtacoP97Y5H3Zi-ldJTCA9bN2DY=w400-h388" width="400" /></a></div><br /><i>Assisted by son John, Charlotte delivers her keynote address (photo by Gene Veritas).</i></span>
<p><style>@font-face
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{page:WordSection1;}</style> </p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-51446700596660529092022-01-18T22:07:00.005-08:002022-01-19T12:28:05.475-08:00After setback, Roche to run new clinical trial with Huntington’s disease gene silencing drug<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">After <a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank">halting dosing in the historic Phase 3 clinical trial</a> for its Huntington’s disease gene silencing drug
tominersen last March, pharmaceutical giant <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a>
announced today that it will start a new, less ambitious Phase 2 trial, limited
to younger adult patients with “less disease burden.” The goal is to measure
tominersen’s efficacy against the progression of HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Disease
burden is calculated using a person’s age and degree of genetic mutation: the
higher the sum of those two factors, the higher the burden. Roche, after
initial testing of the drug, skipped Phase 2, which typically tests safety and efficacy of different doses, to
pursue a Phase 3 trial, which confirms safety and efficacy in a larger population. Now it is proceeding in a more
typical manner.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche informed
the global HD community about the new trial in a <a href="https://hdsa.org/news/breaking-news-roche-has-announced-that-the-tominersen-research-programme-will-continue-with-a-new-phase-ii-trial/" rel="nofollow" target="_blank">letter</a></span><span style="font-family: "Times New Roman",serif;"><a href="https://hdsa.org/news/breaking-news-roche-has-announced-that-the-tominersen-research-programme-will-continue-with-a-new-phase-ii-trial/" rel="nofollow" target="_blank"> released today</a>. Roche’s partner
Ionis Pharmaceuticals, Inc., the original developer of tominersen, also issued
a <a href="https://ir.ionispharma.com/news-releases/news-release-details/ionis-partner-evaluate-tominersen-huntingtons-disease-new-phase" rel="nofollow" target="_blank">press release</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“New
exploratory post hoc analyses of GENERATION HD1 suggest that low exposure (less
frequent dosing) tominersen may benefit younger adult patients with lower disease
burden,” the Roche letter stated. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEiysYymr5APPyhyZfZrx_T-EINY0CY5ktA0lvXLowgfK4G8fRh8_Y4zZEoQRfSVV17zBB13-VGUIX1tFKag4QqCysJ1dVnX5PYzHl61f34cRR0qg4ZLHq7d2UgiQcHp3ZUKZSf3UsG5VnJ-FpElcdcCKsupVLYxY7kndcXYz0jDcIoCjJVPBlQ=s2000" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1083" data-original-width="2000" height="216" src="https://blogger.googleusercontent.com/img/a/AVvXsEiysYymr5APPyhyZfZrx_T-EINY0CY5ktA0lvXLowgfK4G8fRh8_Y4zZEoQRfSVV17zBB13-VGUIX1tFKag4QqCysJ1dVnX5PYzHl61f34cRR0qg4ZLHq7d2UgiQcHp3ZUKZSf3UsG5VnJ-FpElcdcCKsupVLYxY7kndcXYz0jDcIoCjJVPBlQ=w400-h216" width="400" /></a></div><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Low dosing
meant volunteers received the drug every 16 weeks, while high dosing was every
eight weeks.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“These
findings, together with safety data of low exposure tominersen, support the continuation
of the development program with a new Phase II clinical trial in younger adult
patients with lower disease burden,” the letter continued. “While the findings
are encouraging, confirmation in a randomised, placebo-controlled study is
important.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Post hoc
analyses involve criteria set after data is seen, and “therefore they are
not definitive,” the letter said. Because the trial was not specifically designed to run these analyses, the number of patients in the subgroups are small and the differences to placebo are not "statistically significant" and "could represent a chance result."<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Even so, “these
findings are promising and warrant a new study designed to test tominersen in
this specific patient group,” stated Frank Bennett, Ph.D., Ionis' executive
vice president, chief</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">scientific
officer and franchise leader for neurological programs, in the press release. “This
is an encouraging development for the HD community. We and Roche are grateful
to the HD community's continued partnership, which has led to these important
insights and a new scientific hypothesis [about tominersen].”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Maximizing
benefits for HD patients</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“It’s very
exciting,” said Jody Corey-Bloom, M.D., Ph.D., the director of the Huntington’s
Disease Society of America (HDSA) <a href="https://neurosciences.ucsd.edu/centers-programs/huntingtons-disease/index.html" rel="nofollow" target="_blank">Center of Excellence</a> at the University of
California San Diego</span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">One of the
GENERATION HD1 trial investigators, Dr. Corey-Bloom participated in a
Roche-sponsored videoconference about the GENERATION HD1 findings that are serving as the basis for plans for a Phase 2 trial. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“They’ve
analyzed the data in a very thoughtful manner,” Dr. Corey-Bloom said. “They’re
hoping to really maximize benefits for at least a specific group of patients with
HD, based on the results of their post hoc analysis.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche is
still planning the new trial. Therefore, it has not yet announced a timeline,
sites, eligibility criteria, or information about dosing.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“This is
just the news that should instill hope – a clear demonstration of the
researchers’ commitment to regroup, redirect, and bravely move forward with its
work on tominersen even after the challenges of 2021,” Martha Nance, M.D., the
Center of Excellence director at Hennepin Health Care in Minneapolis, MN, commented
by e-mail. “HD families, research scientists, and clinicians will need to work
together in the coming years to determine when, whether, and how this drug can
be delivered safely, effectively, and ethically to people in the earliest
stages of HD.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Representatives
of Roche will present public updates on tominersen in previously scheduled
webinars on January 20 for the European Huntington’s Disease Network
(<a href="https://zoom.us/webinar/register/WN_iCem8oSBSbO6AljJ0JrSTw" rel="nofollow" target="_blank">click here</a>
to register) and HDSA (<a href="https://hdsa-org.zoom.us/webinar/register/5816412311978/WN_BkZOcSumSDCWNsAZTdaJyw" rel="nofollow" target="_blank">click here</a> to
register). Another webinar, hosted by the European Huntington Association, will
take place on January 24 (<a href="http://eurohuntington.org/event/roche-webinar-generation-hd1-what-does-the-data-tell-us/?instance_id=109" rel="nofollow" target="_blank">click here</a>
to register).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche is
“resurrecting” tominersen in the “right way,” <a href="https://www.evaluate.com/vantage/articles/news/trial-results-snippets/roche-and-ionis-bring-tominersen-back-dead?mkt_tok=NjA3LVlHUy0zNjQAAAGCDPGqSaQgYndjlW34FxcYYMX2gOhJbzDfEKP9yWdwWZMK4Dp_U-hE6OTpLTlmTnyzMddyhapPCJ4LsZpJEQyj8G5GUYwcPqdxWrISIeDJ4lgVRQ" rel="nofollow" target="_blank">wrote</a></span><span style="font-family: "Times New Roman",serif;"> Evaluate Vantage biopharma
analyst Madeleine Armstrong. “Instead of running another phase 3, or indeed
seeking approval, Roche is now going back to phase 2, although details are
scant.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With “no
approved therapies for Huntington’s,” Roche “looks justified in trying again,”
she added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">More
results at upcoming conference</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In an
initial trial completed in 2017, Ionis had demonstrated that tominersen had
successfully lowered the amount of the mutant, purportedly toxic huntingtin
protein in the cerebral spinal fluid of a small group of volunteers. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Those
impressive results led Roche to skip the standard Phase 2 trial and enter
directly into Phase 3 (<a href="https://curehd.blogspot.com/2018/03/ionis-phase-12a-clinical-trial-data.html" rel="nofollow" target="_blank">click here</a> to
read more). The GENERATION HD1 trial started in early 2019, enrolled a total of
around 800 participants globally, and was to end in 2022.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However, in
March 2021 a monitoring board conducting a standard review of trial data
recommended that all dosing of tominersen in GENERATION HD1 be <a href="https://curehd.blogspot.com/2021/03/tough-news-for-huntingtons-other.html" rel="nofollow" target="_blank">stopped</a>.
Roche decided to also stop dosing in a supporting trial. The following month Roche confirmed that trial data indicated that <a href="https://curehd.blogspot.com/2021/05/the-first-at-bat-is-never-grand-slam.html" rel="nofollow" target="_blank">tominersen was ineffective</a> and, in some cases, actually caused volunteers to worsen</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Roche is
expected to present a detailed scientific update on tominersen at the 17th Annual
<a href="https://chdifoundation.org/2022-hdtc-announcement/" rel="nofollow" target="_blank">HD Therapeutics Conference</a></span><span style="font-family: "Times New Roman",serif;"> February 28-March 3 in Palm
Springs, CA.</span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">(Disclosure:
I hold a symbolic amount of Ionis shares.)</span></i></p>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-79714992477189486522021-12-13T16:01:00.001-08:002021-12-13T17:37:27.554-08:00Huntington’s disease advocates, scientists generate hope after a difficult year in the search for treatments<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In one of
the most difficult years emotionally in the fight to conquer Huntington’s
disease, advocates, scientists, and HD-affected individuals have generated hope
as 2021 draws to a close.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
<a href="https://curehd.blogspot.com/2021/04/overcoming-heartbreaking-moment-for.html" rel="nofollow" target="_blank">“heartbreaking” news</a> in March</span><span style="font-family: "Times New Roman",serif;"> about the disappointing results
of the greatly anticipated <a href="https://www.roche.com/" rel="nofollow" target="_blank">Roche</a> and <a href="https://wavelifesciences.com/" rel="nofollow" target="_blank">Wave Life Sciences</a> clinical
trials was compounded by the devastating, ongoing <a href="https://covid19.who.int/" rel="nofollow" target="_blank">coronavirus pandemic</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Last year
at this time, leading global HD advocate <a href="https://www.nature.com/articles/d42473-018-00042-y" rel="nofollow" target="_blank">Charles Sabine</a></span><span style="font-family: "Times New Roman",serif;">, a British former international
correspondent for NBC-TV, launched his inspiring film <a href="https://www.youtube.com/watch?v=wTTq9Z2QG84" rel="nofollow" target="_blank"><i>Dancing at the Vatican</i></a>, about Pope Francis’
embrace of the global HD community, on YouTube.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Like the
pope’s 2017 special audience with the HD community in Rome, <i>Dancing at the
Vatican</i> brought great <a href="https://curehd.blogspot.com/2019/07/dancing-at-vatican-about-huntingtons.html" rel="nofollow" target="_blank">hope and joy</a>.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Now Sabine
has just released another heartening film, <i>Hoping Machine</i>, a 60-minute
documentary that, he says, “encapsulates many core principles” of the pope’s
declaration that it is time for HD to be “hidden no more”: the “corrosive
nature of denial and hidden secrets” and the “empowerment that springs from
knowledge, understanding, collaboration and community.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“I truly
believe <i>Hoping Machine</i> offers the most important perspective that anyone
involved in HD right now – researchers, clinicians or families – could hear,”
Sabine wrote me by e-mail.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">You can
watch <i>Hoping Machine</i> for free by <a href="https://www.hiddennomore.com/initiatives" rel="nofollow" target="_blank">clicking on this link</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Powerful
HD journeys</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Hoping Machine</span></i><span style="font-family: "Times New Roman",serif;"> takes its title from the song by
American folk music giant <a href="https://www.woodyguthrie.org/Lyrics/Hoping_Machine.htm" rel="nofollow" target="_blank">Woody Guthrie</a></span><span style="font-family: "Times New Roman",serif;">, who died from HD in 1967, the
year his former wife <a href="https://www.nytimes.com/1983/03/14/obituaries/marjorie-guthrie-singer-s-widow-65.html" rel="nofollow" target="_blank">Marjorie</a>
founded the Huntington’s Disease Society of America (<a href="https://hdsa.org/about-hdsa/hdsa-history/?fbclid=IwAR0fUVM9Wd34xax_2P8kn6CAGHmFSkobr8ps86kgflBN1Olgj7oBgxbFHTM" rel="nofollow" target="_blank">HDSA</a>).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The film
depicts the gripping recollections of HD family members, and also several
scientists, of their experiences as keynote speakers at what I have called the
<a href="http://curehd.blogspot.com/2010/02/super-sunday-hd-story.html" rel="nofollow" target="_blank">“Super Bowl”</a></span><span style="font-family: "Times New Roman",serif;"><a href="http://curehd.blogspot.com/2010/02/super-sunday-hd-story.html" rel="nofollow" target="_blank"> of HD research</a>, the annual
Huntington’s Disease Therapeutics Conference. Beginning in 2006, the conferences are sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a>,</span><span style="font-family: "Times New Roman",serif;"> the abundantly funded, nonprofit
virtual biotech aimed solely at developing HD therapies.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">These
speakers have all told powerful stories about their HD journeys, including
using the keynote to go public about their HD status for the first time (<a href="https://curehd.blogspot.com/2011/02/unmasking-gene-veritas-huntingtons.html" rel="nofollow" target="_blank">my case</a> in 2011</span><span style="font-family: "Times New Roman",serif;">) and exploring the most intimate
and difficult aspects of life with HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Inspired
by the scientists’ dedication</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">They have
also sought to both inspire and thank the scientists.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Here I
am, affected by Huntington's disease, and I'm relying on all of you guys, all
of the scientists, everybody working in the HD community,” keynoter Amy Merkel
recalled of her talk in Palm Springs, CA, in February 2020. “I'm relying on
you for life.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Sometimes,
when she has experienced symptoms, “I just kinda wanted to crawl under the
covers and stop trying,” Merkel continued. “That speech and that time in Palm
Springs kind of lifted me a little. You can do this.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A licensed
practical nurse, Merkel had abandoned her “dream” of becoming a registered
nurse (RN) “because I knew I was gene-positive” for HD, she said. However, “the
advances that all of the scientists have made in Huntington’s research”
convinced her to study to become an RN.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Amy achieved her goal: "I'm a registered nurse, and I currently am working as a sexual abuse nurse examiner in southern Arizona." <br /></span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;"> </span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/a/AVvXsEg3Ox9BXLosgIQuwN8Iq1c2QkBFu7p75UuawWiUUhwDmPYW9DNjGRA6LIjGI4pY-Ak4TjQ941MvHq4AHg71cai4Ti-tdrw-UVcINlu7qUTAPmESF4Y5_TT55HYGa2mUs0GQM34OAGzH0S_OY3lJYjt_7DqZMYiJbwCenHNksIWD1ZBxGYZGk2k=s2048" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1290" data-original-width="2048" height="253" src="https://blogger.googleusercontent.com/img/a/AVvXsEg3Ox9BXLosgIQuwN8Iq1c2QkBFu7p75UuawWiUUhwDmPYW9DNjGRA6LIjGI4pY-Ak4TjQ941MvHq4AHg71cai4Ti-tdrw-UVcINlu7qUTAPmESF4Y5_TT55HYGa2mUs0GQM34OAGzH0S_OY3lJYjt_7DqZMYiJbwCenHNksIWD1ZBxGYZGk2k=w400-h253" width="400" /></a></div> <p></p><p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Amy Merkel poses with researchers Dr. Sarah
Tabrizi (far left), Leslie Thompson, Ph.D. (second from right), and Gillian
Bates, Ph.D. (far right), at the 15th HD Therapeutics Conference, held in in Palm Springs,
CA, February 2020 (photo by Gene Veritas, aka Kenneth P. Serbin).</span></i></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Good news
from the KINECT-HD trial</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Another
glimmer of hope – and a sign that HD science marches on – came on December 7
with the <a href="https://neurocrine.gcs-web.com/news-releases/news-release-details/neurocrine-biosciences-announces-positive-phase-3-data-kinect-hd" rel="nofollow" target="_blank">release of “positive” data</a> from the KINECT-HD phase 3 clinical trial</span><span style="font-family: "Times New Roman",serif;"> to test the efficacy, safety, and
tolerability of <a href="https://www.neurocrine.com/" rel="nofollow" target="_blank">Neurocrine Biosciences’</a></span><span style="font-family: "Times New Roman",serif;"> drug valbenazine. The initial
trial data demonstrated that valbenazine, as intended, reduced chorea, the
involuntary, dance-like movements that are the principal motor symptom of HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Marketed
by San Diego-based Neurocrine as Ingrezza and already approved by the U.S. Food
and Drug Administration (FDA) for the neurological disorder <a href="https://rarediseases.org/rare-diseases/tardive-dyskinesia/" rel="nofollow" target="_blank">tardive dyskinesia</a></span><span style="font-family: "Times New Roman",serif;">, valbenazine is the same type of
drug as the two other FDA-authorized drugs for chorea, <a href="https://www.xenazineusa.com/" rel="nofollow" target="_blank">Xenazine</a>
(2008) and <a href="https://www.austedo.com/" rel="nofollow" target="_blank">Austedo</a></span><span style="font-family: "Times New Roman",serif;"> (2017).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">According
to the Neuocrine <a href="https://neurocrine.gcs-web.com/news-releases/news-release-details/neurocrine-biosciences-announces-positive-phase-3-data-kinect-hd" rel="nofollow" target="_blank">press release</a></span><span style="font-family: "Times New Roman",serif;">, Ingrezza reduced the total motor
score (a measure of the severity of chorea) by 3.2 points versus placebo in the
trial participants.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">This
result was very close to reduction of the 2.5 points in Austedo and the 3.5
points in Xenazine. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As the
release explained, the total motor score is part of the motor assessment of the
research tool known as the Unified Huntington’s Disease Rating Scale (<a href="https://huntingtonstudygroup.org/uhdrs/" rel="nofollow" target="_blank">UHDRS®</a>) and “measures chorea in seven
different body parts, including the face, oral-buccal-lingual region, trunk and
each limb independently.” The total motor score is the sum of the individual
scores and ranges from 0 to 28.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Like
Xenazine and Austedo, valbenazine is a <a href="https://pubmed.ncbi.nlm.nih.gov/30306450/" rel="nofollow" target="_blank">VMAT2 inhibitor</a></span><span style="font-family: "Times New Roman",serif;">. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Initial
data about Austedo (deutetrabenazine) indicated that patients “felt better”
overall after taking this drug. In addition, Austedo requires only two daily
doses, versus Xenazine’s three (<a href="https://curehd.blogspot.com/2015/02/huntingtons-disease-patients-feel.html" rel="nofollow" target="_blank">click here</a></span><span style="font-family: "Times New Roman",serif;"> to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Ingrezza
is even more convenient: the KINECT-HD trial used just one daily dose.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Critical:
no suicidal behavior observed</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Critically,
and also in contrast with the other two drugs, “no suicidal behavior or worsening
of suicidal ideation was observed in the valbenazine-treated subjects in this
study,” the Neuocrine statement said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Neocrine
partnered in KINECT-HD with the <a href="https://huntingtonstudygroup.org/" rel="nofollow" target="_blank">Huntington Study Group</a> (HSG), the leading HD
clinical trial administrator and research platform. In a first for the HSG,
KINECT-HD trial participants used wearable sensors for continuous monitoring of
their movements and other biological functions, even at home. (<a href="https://curehd.blogspot.com/2019/11/navigating-huntingtons-disease.html" rel="nofollow" target="_blank">Click here</a></span><span style="font-family: "Times New Roman",serif;"> to read more.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In 2022, after
a complete review of the trial data, Neocrine will report its findings in
greater detail at a medical conference, and it will submit the drug for FDA
approval for use in HD.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal" style="mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“The
positive results of the KINECT-HD study are very exciting for the HD community,”
Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence at
the University of California, San Diego, wrote me on e-mail. “Although valbenazine
is not a disease-modifying therapy, it will clearly be a highly effective
therapeutic option for one of the most common symptoms in HD – chorea.”</span></p><p class="MsoNormal" style="mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“Completing ANY clinical research trial successfully in
the midst of the COVID-19 pandemic is cause for excitement, and a
testament to the tenacity of HD patients, families, and research teams,”
wrote Martha Nance, M.D., the Center of Excellence director at Hennepin Health
Care in Minneapolis, MN. “The favorable results are not terribly surprising,
since two other similar drugs have been approved previously – but they are
certainly reassuring.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Maintaining the commitment to
patients</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">The <a href="https://curehd.blogspot.com/2011/11/waiting-in-wings-gene-positive-and.html" rel="nofollow" target="_blank">“holy grail”</a> </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">for the HD field – and other neurological diseases – is a treatment that
prevents people from ever developing symptoms.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">Comparing Ingrezza’s success with this bigger challenge, Dr.
Nance offered a partial explanation to what she described as a large and
complex challenge.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“It only takes a few weeks or months to document that a drug
reduces the severity of a symptom (chorea, depression, insomnia), but takes
years to show that a drug is slowing the progression of a disease that
progresses slowly over years,” she wrote. “We have not gained a toehold on
slowing nerve cell loss in any of these conditions.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">However, because the scientists have advanced to attempting
treatments aimed at the disease’s roots – DNA and RNA – “there is good reason
to hope.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">“Building on the unsuccessful trials that were so
disheartening to the global HD community earlier this year, I counted no fewer than
thirteen companies moving towards clinical trials of DNA/RNA-directed
treatments at our recent HSG <a href="https://huntingtonstudygroup.org/about/our-annual-meeting/" rel="nofollow" target="_blank">research conference</a></span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">
in November,” she noted.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";"> </span></p>
<span style="font-family: "Times New Roman",serif; font-size: 12pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-US;">Dr. Nance wrote that we should be “thrilled” that 2021
has ended on a favorable research result and “maintain our commitment to work
together to find better treatments for the HD patients of the future.”</span>
<p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-1761934567923968952021-11-01T15:36:00.004-07:002021-11-02T12:22:06.943-07:00A proud Huntington’s disease gene carrier’s message to his ‘miracle baby’ daughter on her senior year in college<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">When I
tested positive for the Huntington’s disease genetic mutation in 1999, at 39, I
was convinced I was doomed to repeat my HD-stricken mother’s onset of symptoms
in her late 40s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><span style="mso-spacerun: yes;"> </span></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I had
tested because my wife Regina and I wanted to plan for children, who, if I had
the mutation, would also have a 50-50 chance of inheriting it.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">We decided
to have a child before the availability of <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837037/" rel="nofollow" target="_blank">preimplantation genetic diagnosis</a>
(PGD), which
involves in vitro fertilization of embryos without the mutation. So, we had our
daughter Bianca tested in the womb. Her <i>negative</i> result in early 2000 was
one of the happiest moments of our life. She was our <a href="http://curehd.blogspot.com/2010/01/telling-truth-about-disease.html" rel="nofollow" target="_blank">“miracle baby.”</a></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Now, 21
years later, Bianca has started her senior year at the <a href="https://www.upenn.edu/" rel="nofollow" target="_blank">University of Pennsylvania</a>, where she is finishing a U.S. history honors
thesis. She has flourished in her classes and successfully taken on several
leadership roles.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Bianca
understood from about the age of two that her <a href="http://curehd.blogspot.com/2010/01/telling-truth-about-disease.html" rel="nofollow" target="_blank">grandmother was ill</a> with a
genetic disease</span><span style="font-family: "Times New Roman",serif;">. HD transformed my mother into a
mere physical and mental shadow of herself, taking her life at 68 in 2006. Four
years later, when Bianca was 9, she learned that I, too, was at risk but that
<a href="http://curehd.blogspot.com/2010/05/dad-could-you-get-hd.html" rel="nofollow" target="_blank">she was <i>not</i></a>.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I have
been extremely lucky. I am almost 62 and was found to have no HD symptoms at my
recent annual neurological checkup. I have perhaps benefited from the positive
action of <a href="http://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">modifier genes</a></span><span style="font-family: "Times New Roman",serif;"> and a far greater opportunity
than my mother had – we had never heard of HD prior to her diagnosis – to
prepare for the disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As Bianca navigates
the challenges of senior year and prepares for post-college life, I want to
provide her with a message of hope, challenge, and some of the wisdom I have
picked up along my own life’s journey, including our family’s struggle against
Huntington’s. My letter to Bianca follows after the photo below.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjVN6-gegLvT0l5zk-d7gdBi7t4ii5B1yrKvMu6KZXbE8OPBusc4xyL9m8UuGv667r-0pS3LWQiP4viTlU1SJYY4yxuLn1d-OLMOyOgAhfuaWYZOgizj8erbz8lN6NgAobBfbmgSA/s1280/Regina-GV-Bianca-Cropped.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="609" data-original-width="1280" height="190" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjVN6-gegLvT0l5zk-d7gdBi7t4ii5B1yrKvMu6KZXbE8OPBusc4xyL9m8UuGv667r-0pS3LWQiP4viTlU1SJYY4yxuLn1d-OLMOyOgAhfuaWYZOgizj8erbz8lN6NgAobBfbmgSA/w400-h190/Regina-GV-Bianca-Cropped.jpeg" width="400" /></a></div><br /><i>Regina Serbin (left), Gene Veritas (aka Kenneth P. Serbin), and Bianca Serbin at the Edge sky deck during a visit to New York City in August 2021 to celebrate Bianca's 21st birthday (photo by Devon Riley)</i><br /><p></p><span style="font-family: "Times New Roman",serif;"> </span>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Dearest
Bianca,</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">When
you graduate next May, you and your classmates will come of age at a time of
immense challenges. </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">I am
impressed with how you (and so many other students of all levels) have shown
great fortitude and flexibility when forced into the new reality of online
learning and social distancing during the monumental disruptions of the COVID-19
crisis.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">I was
happy to see that this semester Penn has moved students back into the
classroom, allowing you to recover some of the lost joy of the college years.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">With
the rapid development of highly effective RNA-based vaccines, many of us are reaping
the fruits of the biotechnological breakthroughs of our era. Researchers are
also exploring a variety of such genetics-based approaches as potential
Huntington’s treatments. Because many of these advances promise to change our
very nature, they will pose ethical dilemmas.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Our
family has lived this in the flesh. The biomedical revolution made it possible
for you to know your life will be free of Huntington’s. However, as you have
learned, being HD-free does not mean being challenge-free. Far from it!</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">But the
freedom from HD has enabled you to plan a life in which you can strive for
academic and professional excellence, and to develop your personal qualities.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">As you
venture forth, remember always that you’re not going it alone. You can rely on
others, just as you should be available to support others. Life is a collective
endeavor, as our family has learned so well from the fight against HD. As I
always tell people dealing with the initial shock of discovering Huntington’s
in their families, “together we will beat this disease!”</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">In your
drive for personal success, cherish the preciousness of time, as I have learned
to do in confronting the fears of HD. Use ambition to push ahead, but don’t let
it dominate your inner good. Always make time for family and friends.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Take
time to meditate and cultivate your spirituality, because I believe that we all
have such a dimension, independent of any belief system or organized religion.
As you have done at Penn, find ways in your life to connect to something larger
than you.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Bianca,
I’m elated with how we have come to share many passions: for writing, the study
of history, historical movies (especially war films), music, our dog Lenny, and
our family.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Because
of HD, your grandmother could barely hold you as a baby. Your “HD warrior”
caregiver grandfather loved you deeply. I wish they could have shared your
college years.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">I have
not wanted you to worry about me getting HD, which is a major reason that I
have strived so hard to maintain good health – and to support the search for
treatments that could save me from HD’s inevitable though often unpredictable symptoms.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">You and
Mom have joined me at Hope Walks and other fundraisers, and in 2017 you gave up
the chance to attend your junior prom to take part in Pope Francis’ special
audience with the HD community in Rome. I so deeply appreciated having you by
my side during that breathtaking moment.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">I am
thrilled and thankful to have the clarity of mind to enjoy your progress
towards graduation. You have made me deeply proud.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Because
of our and so many other families’ dedication to the HD cause, and also thanks
to the researchers, I remain ever hopeful for an HD treatment in my lifetime.
If that moment comes, I know that no matter where you are geographically and
professionally, we will celebrate with tears of joy.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">I hope
HD strikes me minimally and very late in life, as I have seen in some cases.
Together our family has seen many people with HD fight tremendously to overcome
the disease, and their caregivers devote every ounce of strength. As it has
throughout our journey, the hope for both my good health and the arrival of
treatments will continue to sustain us – even beyond the start of any symptoms
that might occur.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">No
matter what difficulty, please remember that I have always treasured our great
moments together and watching you grow as a person. </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">No one
knows what tomorrow will bring. In this moment, let’s cherish the positive,
including the fact that you, Mom, and I are healthy. As your senior year
progresses, I want to celebrate our joy together as you prepare to graduate.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Raising
you has brought Mom and me greater meaning and purpose – and, above all, lots
of love to share.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Healthy
and ambitious, you are poised, with your generation, to leave your mark on the
world.</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Congratulations
on your senior year! Enjoy the ride!</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Love,</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Dad</span></i></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;"> </span></i></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjklgWzbNYJro-8m5_E63aFCijRhpwWcdQh20bXKpD4PluTUC5G5o2qCerp6BqXAeR7GVZimJAx84avCeC3aketX8KEQEyIV0DFvTrTFck9tzKE3n7leqtYdD_XSFmjnKTYfowcSA/s1471/TeamSerbin2014.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="946" data-original-width="1471" height="258" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjklgWzbNYJro-8m5_E63aFCijRhpwWcdQh20bXKpD4PluTUC5G5o2qCerp6BqXAeR7GVZimJAx84avCeC3aketX8KEQEyIV0DFvTrTFck9tzKE3n7leqtYdD_XSFmjnKTYfowcSA/w400-h258/TeamSerbin2014.jpg" width="400" /> </a></div><div class="separator" style="clear: both; text-align: center;"> </div><i>The Serbin Family Team of the Huntington's Disease Society of America San Diego Chapter's 2014 Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, and Allan Rappoport (photo by Bob Walker)</i><p></p><p><style>@font-face
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-31231362575826807272021-09-18T16:27:00.001-07:002021-09-20T15:51:02.288-07:00Bidding farewell to my ‘mind coach,’ a major ally in in my fight to avoid Huntington’s disease<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
December, my psychotherapist will retire, ending for me a professional
relationship of 24 years that became the most personal of bonds and an
emotional bulwark in my fight to delay – and prepare for – the inevitable onset
of Huntington’s disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I had
consulted therapists in my twenties and early thirties for non-HD-related
matters. However, after my mother’s diagnosis with HD in 1995 and her
inexorable physical and mental decline, I spiraled downward into clinical depression
and anxiety. I needed more profound, long-term psychological support.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I
contacted the local psychoanalytic society, which, after an intake interview,
put me in touch with a psychoanalyst who best matched my needs and goals. I was
fortunate that she proved to be a good fit. I recommend a proactive attitude
about therapy, with a willingness to ask questions, and, if necessary, switching
to another analyst or therapist.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For me, so
began a journey of seeking greater personal and social enrichment. HD
researchers and physicians have long encouraged a healthy lifestyle, although <a href="https://curehd.blogspot.com/2019/10/are-we-failing-to-stop-huntingtons.html" rel="nofollow" target="_blank">no one has found evidence</a> to prove its effect</span><span style="font-family: "Times New Roman",serif;">. However, as discussed below,
scientists are seeking ways to use HD-affected individuals’ sense of meaning
and purpose as a possible path to alleviating symptoms.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
psychotherapist has certainly helped me build meaning and purpose not just in
my fight against HD, but in life in general.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As the
format of my therapy went from classic psychoanalysis (multiple sessions per
week lying on a couch) to a face-to-face encounter on a weekly, bi-weekly, and
then monthly basis, I have referred to my therapist in different ways. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“My therapist
is like a personal trainer,” I <a href="http://curehd.blogspot.com/2009/11/no-time-for-fear.html" rel="nofollow" target="_blank">wrote in 2009</a></span><a href="http://curehd.blogspot.com/2009/11/no-time-for-fear.html" rel="nofollow" target="_blank"><span class="MsoHyperlink"><span style="font-family: "Times New Roman",serif;"></span></span></a><span style="font-family: "Times New Roman",serif;">. “She’s my mind coach. She helps
me keep my mind working at its best to meet the challenges of living at risk
for HD, just as a personal trainer or coach helps a professional athlete keep
his body in top shape.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiReZ9kQvPE2PzEoxapKF_DJakRaiEXaSeNpDg3zi1h2bdj8tXbH9l2-pTaJLXC4MP_ijqleoVKd4UsxV0CdFiOGL1iN0Swd7Fs1mcp1a5x_3ML_reMmoltk2faLsZ03395vTV4sQ/s1280/IMG_7483.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1035" data-original-width="1280" height="324" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiReZ9kQvPE2PzEoxapKF_DJakRaiEXaSeNpDg3zi1h2bdj8tXbH9l2-pTaJLXC4MP_ijqleoVKd4UsxV0CdFiOGL1iN0Swd7Fs1mcp1a5x_3ML_reMmoltk2faLsZ03395vTV4sQ/w400-h324/IMG_7483.jpg" width="400" /></a></div><i>Gene Veritas, aka Kenneth P. Serbin (photo by Yi Sun, Ph.D.)</i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Psychoanalysis:
unleashing personal growth</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Founded by
the Viennese doctor <a href="https://www.britannica.com/biography/Sigmund-Freud/Psychoanalytic-theory" rel="nofollow" target="_blank">Sigmund Freud</a></span><span style="font-family: "Times New Roman",serif;"> in the early 1900s,
psychoanalysis became the basis for modern talk therapies, in which the patient
shares inner thoughts with the analyst, or therapist.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Although
in the United States in the latter 20th century psychoanalysis was reduced to a
small branch of the burgeoning psychological profession, it remained important in
parts of Latin America, including Brazil, <a href="http://curehd.blogspot.com/2021/05/inequality-is-unsustainable-view-of.html" rel="nofollow" target="_blank">my second home</a>.
I researched the history of the Roman Catholic Church in Brazil for my Ph.D.
dissertation, published as <a href="https://undpress.nd.edu/9780268159924/needs-of-the-heart/" rel="nofollow" target="_blank"><i>Needs of the Heart</i></a></span><span style="font-family: "Times New Roman",serif;"> in 2006.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">From the
1960s to 1980s, the Brazilian Church became the world’s most progressive. In <i>Needs
of the Heart</i>, I wrote that in this period Brazil helped give birth to the
important and controversial</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">liberation
theology, “but also to liberation psychology, whose implications for the Church
were even more revolutionary than the new theology.” </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Liberation
psychology had a dual significance,” I asserted, referring to psychology in the
broad sense, including psychoanalysis and many other approaches. “It could free
people not only from poverty of spirit and mind but also from the repressive
structures of Catholicism.” Liberation psychology sought to release people from
such beliefs as the need to repress sexuality and unquestioningly accept
religious authority. This history resonated deeply with my Catholic upbringing.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Igor
Caruso, a Viennese Russian Orthodox analyst and an inspiration for Brazil’s
pioneers of liberation psychology, viewed psychoanalysis as ultimately an
encounter of love “between two unique and equally valuable personalities.” As I
wrote, he believed that without love, there was no cure.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">One
leading priest-analyst in Brazil described psychoanalysis as a “special grace
received from God” because of the profound self-discovery and personal growth
it unleashed in people.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Although psychoanalysis
in the U.S. fell behind other areas of psychology and medicine in terms of
scientific innovation, it has, with the rise of neuroscience and molecular
biology, experienced a renaissance. Using brain imaging, researchers have been
exploring how different types of psychotherapy, including psychoanalysis,
affect brain structure. (For details, see <a href="https://www.nobelprize.org/prizes/medicine/2000/kandel/facts/" rel="nofollow" target="_blank">Nobel Prize laureate</a> and brain
scientist Dr. Eric Kandel’s</span><span style="font-family: "Times New Roman",serif;"> <a href="https://wwnorton.com/books/In-Search-of-Memory/" rel="nofollow" target="_blank"><i>In Search of Memory</i></a>.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Also, as I
experienced, psychoanalysis could be aided with psychiatric medications.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">About a
year after learning about my mother’s HD diagnosis, during a year-long research
stay in Brazil, I did therapy with a local analyst for several months. She urged me to
continue analysis in the U.S. after my return in mid-1997.</span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;"> </span></b></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Sharing
the trials and triumphs of the HD cause</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I, too, became
liberated by psychoanalysis. As is often the case, the process took years.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
December 1997, I met my analyst for the first time. After a few preliminary
weekly conversations, I lay on my therapist’s couch four times weekly, for 45
minutes, over about five years.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I always
paid out-of-pocket: my insurance did not cover psychoanalysis. Fortunately, the
psychoanalytic society sought to help people of all income levels. In
retrospect, paying privately gave me a greater sense of security about
confidentiality, because (in one of those terrible ironies of the U.S. health system!) I was deliberately keeping my HD status from my health plan,
for fear of discrimination and losing my health coverage, until fully going
public in 2012 (<a href="http://curehd.blogspot.com/2013/10/the-end-of-fear-and-exclusion-informing.html" rel="nofollow" target="_blank">click here</a>
to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As we
talked, my analyst took copious notes on my thoughts and asked questions. I spoke mainly
about my fears, feelings, and past, especially with regard to my relationship
to my family, in particular my mother, who was slowly dying of Huntington’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
therapist listened intently and compassionately to my many struggles with HD
and, more than anyone else, came to know how my fear of the disease – along
with other factors – hindered clear thinking and the ability to enjoy life. She
also shared my pride and joy in the many fundraising and awareness-building
triumphs I achieved with others for the local chapter of the <a href="https://san-diego.hdsa.org/" rel="nofollow" target="_blank">Huntington’s Disease Society of America</a></span><span style="font-family: "Times New Roman",serif;"> (HDSA).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
psychotherapist helped me cope with the impact of my positive test for the HD
mutation in 1999, my daughter’s negative test in the womb in 2000, and my
mother’s death from HD in 2006.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Descending
into the bedrock</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">By early
2003, we had reached a point in the analysis where I needed – and wanted – to descend
into what I called the “bedrock,” the deepest, most difficult feelings, fears,
and memories, which are the hardest to access and confront. Rooted in childhood
and adolescence, they long preceded my family’s struggles with HD. However, I
seemed incapable of entering the bedrock. Part of my mind resisted both my
therapist, and myself, preventing me from being completely honest with myself
and gaining more self-understanding.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
therapist gently pushed me to consider psychiatric medication to overcome that
resistance.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Holding a Ph.D.,
but not an M.D., my therapist could not prescribe medicines, leading me to work
with psychiatrists at my health plan.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">That
process proved difficult and frustrating; rather than specify my true concerns
to these doctors, who knew nothing of my HD status, I had to speak in
generalities.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Finding
a winning combination</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
addition, finding the right medication and the right dosage required years of
trial and error. My first attempt, with <a href="https://www.zoloft.com/" rel="nofollow" target="_blank">Zoloft</a>
(sertraline), nearly proved disastrous: while driving my wife and daughter, I
blanked out and ran the car onto the curb. Luckily, no one was injured. I
immediately quit the medication.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Next,
<a href="https://www.britannica.com/science/Prozac" rel="nofollow" target="_blank">Prozac</a></span><span style="font-family: "Times New Roman",serif;"> (fluoxetine) left me disoriented
and extremely drowsy, so I was switched to <a href="https://www.nami.org/About-Mental-Illness/Treatments/Mental-Health-Medications/Types-of-Medication/Olanzapine-(Zyprexa)" rel="nofollow" target="_blank">Zyprexa</a>
(olanzapine). My mother was also taking this drug for her HD symptoms as an
alternative to <a href="https://www.nami.org/About-Mental-Illness/Treatments/Mental-Health-Medications/Types-of-Medication/Haloperidol-(Haldol)" rel="nofollow" target="_blank">Haldol</a></span><span style="font-family: "Times New Roman",serif;">. Haldol was one of the standard
prescriptions for HD but, we heard from the HD community, not recommended in
many cases.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With
worsening clinical depression and especially anxiety after my mother’s death in
2006, and working with a highly sympathetic psychiatrist (but who still did not know my risk for HD), I found a winning
combination of <a href="https://www.nami.org/About-Mental-Illness/Treatments/Mental-Health-Medications/Types-of-Medication/Escitalopram-(Lexapro)" rel="nofollow" target="_blank">escitalopram</a></span><span style="font-family: "Times New Roman",serif;"> and <a href="https://www.mayoclinic.org/drg-20067189?p=1" rel="nofollow" target="_blank">risperidone</a></span><span style="font-family: "Times New Roman",serif;"> for the respective conditions.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Since the
late 1990s, I had also taken <a href="https://www.mayoclinic.org/drugs-supplements/trazodone-oral-route/description/drg-20061280" rel="nofollow" target="_blank">trazodone</a>
for sleep but quit in 2016 because I had improved on that front considerably. I
have also wanted to avoid overloading my system with medications.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
contrast with Zoloft and Prozac, escitalopram and risperidone apparently did
not cause any unpleasant side effects, although, according to my doctors, I
have taken these last two drugs at very low doses. A general caution I heard
from doctors: certain antidepressants can <a href="https://www.huffpost.com/entry/antidepressants-sex-drive_n_5b114fdfe4b0d5e89e1f17ae" rel="nofollow" target="_blank">negatively impact sexual function</a>.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Taking these medications was a huge step, because growing up I learned that psychological counseling and especially anything psychiatric were taboo and seen as shameful by many in my extended family. <br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Fear of
HD diminished dramatically</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In my late
40s, this successful treatment of escitalopram and risperidone relieved me of
depression and greatly reduced my anxiety. In tandem with my therapy, these
drugs finally helped me psychologically to feel as well as I ever had in my
adult life. I have now taken them at the same dosage for more than a decade,
and will do so for the foreseeable future.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Entering
the bedrock, I continued to gain new insights with my therapist. The fear of
unconditionally trusting her disappeared. I was able to comprehend my psyche. I became more perceptive and more
self-aware – and also more accepting of others and more loving towards my
family.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My fear of
HD diminished dramatically – even though I knew that each day brought me closer
to the likely onset.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I have the
normal ups and downs we all have, but the medications continue to help keep me
stable.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">The
benefits of stability</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In 2011,
my therapist helped me prepare for, and then marveled at, a major achievement
in my HD advocacy, the first major step outside the “terrible and lonely HD
closet”: my <a href="http://curehd.blogspot.com/2011/02/unmasking-gene-veritas-huntingtons.html" rel="nofollow" target="_blank">keynote speech</a></span><span style="font-family: "Times New Roman",serif;"> at the Sixth Annual HD
Therapeutics Conference, sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a>,
the nonprofit virtual biotech firm that is the largest private funder of
efforts to develop treatments.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
therapist provided support for another milestone, and the beginning of the
fully public phase of my advocacy: the publication of my article <a href="https://www.chronicle.com/article/racing-against-the-genetic-clock/" rel="nofollow" target="_blank">“Racing
Against the Genetic Clock”</a></span><span style="font-family: "Times New Roman",serif;"> in <i>The Chronicle of Higher
Education</i> in 2012.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Psychological
stability enabled me to work ever more effectively as an advocate and to
concentrate on activities such as exercise that have bolstered my health. By then,
I had also come off the couch, and our meetings became less frequent.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
therapist also became a regular reader of this blog. In some sessions, we have
discussed concerns I have expressed in articles. On other occasions, therapy
has helped suggest blog topics.</span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My therapist has been a true friend and partner in the fight against HD! <br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A broad
strategy for avoiding symptoms</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In recent
years, as I have proceeded into my sixties, I have reflected on how I have so
far avoided HD symptoms. On September 17, during my annual neurological
checkup, the doctor found no signs of HD. My mother became symptomatic in her
late forties and died at age 68. (<a href="http://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">Click here</a> </span><span class="MsoHyperlink"><span style="font-family: "Times New Roman",serif;"></span></span><span style="font-family: "Times New Roman",serif;">to read more.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Psychotherapy
forms part of a broad range of interrelated strategies for keeping healthy,
including physical and mental exercise, blogging on HD, and taking supplements,
some of which were ultimately proved ineffective. I also eat a healthy diet,
and I meditate and practice spirituality. I have the benefit of a stable,
solid-paying job and a close relationship with my wife and daughter.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As
psychotherapy has helped enrich my life, it has also given me a greater overall
sense of meaning and purpose.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Researchers
are carefully studying these factors as a way to alleviate symptoms.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Meaning
and purpose are key</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In July, a
team of twelve researchers published “<a href="https://onlinelibrary.wiley.com/doi/10.1002/acn3.51424" rel="nofollow" target="_blank">Meaning and purpose in Huntington’s disease:</a> a longitudinal study of its impact on quality of life,” in <i>Annals
of Clinical and Translational Neurology</i>,
a journal of the <a href="https://myana.org/" rel="nofollow" target="_blank">American Neurological Association</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
researchers studied 322 HD-affected individuals: 50 just starting to experience
symptoms, 171 with early-stage disease, and 101 with late-stage disease. The
participants did both an in-person assessment and an online survey. Data were
collected between 2012 and 2016.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
results of the study demonstrated that “higher” meaning and purpose were
“positively associated” with “positive affect [mood] and well-being,” the
researchers stated.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Meaning
and purpose also were associated with “decreased depression, anxiety, anger,
emotional/behavioral disruptions, and cognitive decline at 12 and 24 months
across all disease stages,” they wrote.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">More
research needed</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
article pointed out the study’s limitations: correlation does not necessarily
mean causation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Thus, the
researchers recognized the need to verify their findings with “additional
instrumentation” to measure the connection between meaning and purpose and the
patient-reported data. The study also did not account for possible bias from
people on “psychoactive medications.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Nevertheless,
the researchers described the study as a “compelling first step” toward
understanding the primary mechanism behind meaning and purpose – and how they might
improve quality of life in HD-affected individuals.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Finding
ways to help patients</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The
researchers concluded that their findings “parallel” those seen in those
affected by cancer and might help point the way to “palliative HD
interventions,” approaches that might relieve symptoms without removing the
root cause.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">They also
pointed to the value of psychotherapy. They cited articles from studies of
cancer patients and other conditions focusing on psychotherapy and other
palliative measures such as spirituality.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Critically,
a sense of meaning and purpose “may serve as a resiliency factor for suicide in
people with the HD gene in that it can impact factors associated with suicidal
ideation (e.g., depression, anxiety) as well as suicidal behaviors (e.g.,
impulsivity and anger).”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As the
article pointed out, and as is well-known in the HD community, “suicide is a
leading cause of death.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Nostalgia,
and looking ahead</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As I read
the journal article, I recalled my own fantasies about suicide in the first few
years after my mother’s diagnosis and as I worried whether I had inherited the
mutation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The birth
of our daughter in 2000 gave me immense meaning and purpose. I stopped thinking
about suicide as a way to escape HD. My fight against HD became not only
advocacy for the cure, but a personal quest to maintain stable health so that I
could see my daughter grow up.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My mind
coach has been an invaluable companion in this journey. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As we have
our final sessions, I will become deeply sad. It feels like a lifelong friend
moving to another city, with little chance of a visit.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">My
therapist and I have discussed the pain of separation. As usual, she will be
helping me to remain stable and find a good path forward.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">With nostalgia,
we have also discussed the tremendous progress I have made, including the
highlights of my HD advocacy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In July, I
began meeting occasionally with another therapist, so that I have psychological
support beyond my mind coach’s retirement.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">I am looking
forward to discovering another ally in the fight against Huntington’s.</span></p>
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{page:WordSection1;}</style></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-46266603263193195772021-07-14T17:21:00.008-07:002021-07-14T23:26:29.218-07:00CRISPR, curing Huntington’s disease, and humanity’s future in Isaacson’s ‘Code Breaker’<p>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In a new
book about the broad issue of editing human DNA, a prominent biographer of
scientific innovators proposes that such cutting-edge, potentially curative
gene editing research prioritize Huntington’s disease.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Our
newfound ability to make edits to our genes raises some fascinating questions,”
writes historian <a href="https://isaacson.tulane.edu/" rel="nofollow" target="_blank">Walter Isaacson</a></span><span style="font-family: "Times New Roman",serif;"> – author of studies of Leonardo
da Vinci, Steve Jobs, Albert Einstein, and Benjamin Franklin – at the outset of
his recently published <a href="https://www.simonandschuster.com/books/The-Code-Breaker/Walter-Isaacson/9781982115852" rel="nofollow" target="_blank"><i>The Code Breaker: Jennifer Doudna, Gene Editing, and
the Future of the Human Race</i></a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Code
Breaker</span></i><span style="font-family: "Times New Roman",serif;"> presents a
crucial account of the biggest breakthrough in genetics since the discovery of
DNA’s structure in 1953 by Francis Crick and James Watson.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Editing our
DNA, the molecule that makes up our genes and guides our biological lives, to
make us less susceptible to microbes like the coronavirus would be a “wonderful
boon,” Isaacson suggests in the introduction.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“Should we
use gene editing to eliminate dreaded disorders, such as Huntington’s,
sickle-cell anemia, and cystic fibrosis?” he asks. “That sounds good, too.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><a href="https://vcresearch.berkeley.edu/faculty/jennifer-doudna" rel="nofollow" target="_blank"><span style="font-family: "Times New Roman",serif;">Jennifer Doudna, Ph.D.</span></a><span style="font-family: "Times New Roman",serif;">, the subject of <i>Code Breaker</i>,
has also embraced the concept of gene editing for HD if it can become a safe
and effective therapy. Dr. Doudna won the 2020 <a href="https://www.nobelprize.org/prizes/chemistry/2020/press-release/" rel="nofollow" target="_blank">Nobel Prize in Chemistry</a></span><span style="font-family: "Times New Roman",serif;"> for her work in identifying and
understanding the natural gene editing process now widely known as CRISPR, and
the insight that this tool could potentially be refined for use not only in
the laboratory, but ultimately also in the clinic, to alter human DNA.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> x</span></p><div class="separator" style="clear: both; text-align: center;"><span style="font-family: "Times New Roman",serif;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiDc7upipqOiigoZproiNmolTF9unQP_X8egsIhI5zXRYyOy6Hf00zmWKRRT6P5gz6Cbo24lZrkPXtK0n2dszj3-V8okltVpRRU6xx1oy6JRmlb5XE1ZH-gB7lCiuHL5wgJ-2OXWg/s2048/WalterIsaacson.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1365" data-original-width="2048" height="266" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiDc7upipqOiigoZproiNmolTF9unQP_X8egsIhI5zXRYyOy6Hf00zmWKRRT6P5gz6Cbo24lZrkPXtK0n2dszj3-V8okltVpRRU6xx1oy6JRmlb5XE1ZH-gB7lCiuHL5wgJ-2OXWg/w400-h266/WalterIsaacson.jpeg" width="400" /></a></span></div><span style="font-family: "Times New Roman",serif;"><br /></span><p></p><p><i>Above, author Walter Isaacson learns CRISPR editing, and, below, the cover of </i>Code Breaker<i> (images from Simon & Schuster website).</i></p><p><i><br /></i></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEibtl0-IUQ1hZPu1iSkWfNPN-cex6vJkzP5o3AmQ-A8-yVJphyyDFkpkACAW9WbmuSee3mvGt8wYY_VbiGVfKzNONu_-qwUcb4esvlqGqbRYlw8lb5er_z-dK3AhyphenhyphenatgsdB1XkHCw/s900/CodeBreakerCover-2021.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="900" data-original-width="592" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEibtl0-IUQ1hZPu1iSkWfNPN-cex6vJkzP5o3AmQ-A8-yVJphyyDFkpkACAW9WbmuSee3mvGt8wYY_VbiGVfKzNONu_-qwUcb4esvlqGqbRYlw8lb5er_z-dK3AhyphenhyphenatgsdB1XkHCw/w263-h400/CodeBreakerCover-2021.jpeg" width="263" /></a></div><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A
historic breakthrough, major consequences</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In <i>Code
Breaker, </i>Isaacson traces the influence of the controversial Watson,
now 93, on Dr. Doudna and others. He also interviewed Watson.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For both
general readers and specialists, <i>Code Breaker</i> furnishes an excellent description
of Dr. Doudna and others’ investigation of the structure and actions of
CRISPR-Cas9, the specific type of gene editing feasible for use in humans.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">CRISPR
stands for “clustered regularly interspaced short palindromic repeats,” a
strand of RNA, and Cas-9 for the enzyme associated with the RNA. Cas-9 acts as
a type of scissors to cut DNA. The RNA guides the enzyme to the cutting target.
There are other types of CRISPR.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Ultimately,
Isaacson delves into the significance of CRISPR (and related themes such as
biohacking and home genetic testing) for the future of humanity. CRISPR can
perhaps end single-gene disorders like Huntington’s – but might ultimately also permit us to change such
characteristics as IQ, muscle size and strength, and height. Russian President
Vladimir Putin has extolled CRISPR as a potential way to produce
“super-soldiers,” as Isaacson notes.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A
powerful bioethical story</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson has
produced a powerful bioethical study of when and how gene editing should be
done. He interviewed Dr. Doudna other scientists on their views. He also consulted
bioethicists and their writings.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">He also
contrasts competing political theories regarding editing, pitting the idea of a
free-market “genetic supermarket,” where the individual decides, against that
of a society (and its government) that would permit editing only if it did not
increase inequality.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Thus, <i>Code
Breaker</i> is a major contribution to bioethics (the ethics of medical and
biological research). Isaacson analyzes the potential social, moral, ethical,
political, and ultimately biological consequences of gene editing and the
conflicts it might produce. Editing the human race could produce many wonders,
but also less biological diversity and greater and more permanent inequality,
as the rich will almost inevitably gain privileged access to therapies and
enhancements.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson
illuminates this dilemma by recounting Dr. Doudna’s own “ethical journey” on gene
editing.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“By
limiting gene edits to those that are truly ‘medically necessary,’ she says, we
can make it less likely that parents could seek to ‘enhance’ their children,
which she feels is morally and socially wrong,” he writes. The lines between
the different types of edits can be blurry.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“As long
as we are correcting genetic mutations by restoring the ‘normal’ version of the
gene – not inventing some wholly new enhancement not seen in the average human
genome – we’re likely to be on the safe side,” Dr. Doudna affirms.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Code
Breaker</span></i><span style="font-family: "Times New Roman",serif;"> also
offers important evidence of the tension between so-called open science, where
researchers (and some biohackers) freely share data, and the scientists,
universities, and corporations that fight to establish patents and earn
profits. (<a href="http://curehd.blogspot.com/2021/05/inequality-is-unsustainable-view-of.html" rel="nofollow" target="_blank">Click here</a>
for more on this development.)</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Making
the case for editing the HD mutation</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson
recounts how, in 2016, Dr. Doudna was especially moved by a visit at her workplace,
the University of California, Berkeley, with a man from an HD family, who
described to her how his father and grandfather had died of the disease, and
that his three sisters, also diagnosed with the disorder, now “faced a slow,
agonizing death.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Putting Huntington’s
first in a series of bioethical case studies, Isaacson underscores the crucial
need for an HD CRISPR treatment, noting the disease’s devastating symptoms and rare,
dominant genetic nature (inheriting the mutation from just one parent is
sufficient for getting symptoms).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“If ever
there was a case for editing a human gene, it would be for getting rid of the
mutation that produces the cruel and painful killer known as Huntington’s
disease,” Isaacson asserts.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Eliminating
HD forever</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For HD,
Isaacson suggests a germline edit—removing the elongated piece of DNA in the
huntingtin gene that causes HD in an embryo. A treatment done at this stage
would restore the normal function of the HD gene in all the body cells, including that individual’s eggs
or sperm. This genetic repair would then be inheritable, thus erasing HD
forever from the future generations of the family.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Scientific
protocol and governments have not yet approved such edits, though they have
been done in animal subjects. As narrated in great detail in <i>Code Breaker</i>,
a Chinese researcher did such an edit – to prevent AIDS – in twin babies in
2018, only to be punished by his country’s government and criticized as
irresponsible by scientific colleagues. However, Dr. Doudna and other pioneers
of CRISPR remain hopeful that safe, inheritable edits will become acceptable for
at least some conditions.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson mentions
two alternatives to germline editing that can eliminate HD from a family’s
lineage. First, adoption. Second, preimplantation genetic diagnosis (PGD),
which involves <i>in vitro</i> fertilization using embryos screened for the mutation.
PGD has been used in the HD community for about <a href="https://www.nature.com/articles/5200865" rel="nofollow" target="_blank">20 years</a>. Before PGD
arrived, some families, like mine, have had our offspring <a href="http://curehd.blogspot.com/2018/05/free-from-threat-of-huntingtons-disease.html" rel="nofollow" target="_blank">tested in the womb</a>. However, neither of these strategies have been used widely in the HD
community by at-risk couples.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">If it can
be harnessed safely, to target only the abnormal HD gene, and delivered
effectively to human cells, CRISPR could provide the all-out cure for
Huntington’s long sought by science and so deeply hoped for by HD families.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson
concludes, “it seems (at least to me) that Huntington’s is a genetic malady
that we should eliminate from the human race.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">For
now, don’t ‘hold your breath’ for an HD CRISPR therapy </span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Isaacson
states that “fixing Huntington’s is not a complex edit,” but he does not
elaborate further.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
while leading HD scientists are eagerly using CRISPR as a research tool, the
technique is far from ready as a therapy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">CRISPR was
a key topic at the <a href="https://vimeopro.com/user50548562/2021-hdsa-annual-convention/video/562174215" rel="nofollow" target="_blank">“Ask the Scientist … Anything”</a> panel
of the virtual 36th Annual Convention of the <a href="https://hdsa.org/" rel="nofollow" target="_blank">Huntington’s Disease Society ofAmerica</a> (HDSA), held June 10-13. Noting that many in
the HD community have inquired about CRISPR, HDSA Chief Scientific Officer
George Yohrling, Ph.D., asked the panel to comment on its potential as a therapy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“CRISPR is
really an exciting tool,” said researcher <a href="https://wp.wwu.edu/carrolllab/about-jeff-carroll/" rel="nofollow" target="_blank">Jeff Carroll, Ph.D.</a></span><span style="font-family: "Times New Roman",serif;">, co-founder of the <a href="https://en.hdbuzz.net/" rel="nofollow" target="_blank">HDBuzz</a></span><span style="font-family: "Times New Roman",serif;"> website and, like me, an <a href="https://vimeo.com/120604026" rel="nofollow" target="_blank">HD gene carrier</a> who lost his mother to the disease.
“CRISPR allows us really for the first time to edit DNA itself in a very
precise way, to make very precise cuts in the DNA of a cell or even in an
intact organism.” He added: “scientists are using it like crazy” in lab experiments. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In his own
HD-focused lab at Western Washington University, Dr. Carroll and his team have developed
a line of experimental mice with cells containing enzymes (proteins that act as
chemical catalysts) necessary for doing CRISPR edits, Dr. Carroll explained.
Such enzymes do not normally occur in human cells, he added. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Using
CRISPR, “we can mess with these mice’s genome [DNA] in ways that were
unimaginable just a few years ago,” Dr. Carroll continued.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiMSLOfbuBlIbje09iAFocyp4Cd6dQ5F88I6xjLKllYr5tmvYG4HiJiu2hEJ_Q8aB7jRoeIkS_4oAIAZ9ddRqcoHdVlwRq3BmFkDlaoLDiA2gEaOSExEP9PewCefNtMLG5h7Dz2IA/s1280/JeffCarrollHDSA_2021.jpeg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1129" data-original-width="1280" height="353" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiMSLOfbuBlIbje09iAFocyp4Cd6dQ5F88I6xjLKllYr5tmvYG4HiJiu2hEJ_Q8aB7jRoeIkS_4oAIAZ9ddRqcoHdVlwRq3BmFkDlaoLDiA2gEaOSExEP9PewCefNtMLG5h7Dz2IA/w400-h353/JeffCarrollHDSA_2021.jpeg" width="400" /></a></div><br /><i>Dr. Jeff Carroll commenting on HD science at the virtual 2021 HDSA national convention (screenshot by Gene Veritas, aka Kenneth P. Serbin)</i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For an HD
family, “the idea of cutting out the DNA and fixing it is very, very appealing
and something we can do in animal models and [animal and human] cell lines in
the lab already, and it looks really promising.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
Dr. Carroll offered a blunt assessment of the current state of research on CRISPR
as an HD treatment.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“As an
actual HD therapy, I’m less excited about CRISPR,” he said. “I think it’s many
years away. Something based on it may someday help us, but you have to realize
that these enzymes that you need to enact CRISPR are themselves giant proteins
that actually originate from bacteria, and we have to put them into the cell.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“So, if
you want to use CRISPR as a therapy for Huntington’s and we want to modify all
the DNA in the whole brain, we have to get into every one of your 84 billion
neurons and put a CRISPR factor in there and modify the DNA.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As a
result, “Huntington’s will not be the first disease treated with CRISPR,” Dr.
Carroll concluded. “I wouldn’t hold your breath for it as a therapy for HD in
the medium or short term.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Currently,
a possible better candidate for a CRISPR treatment would be a disease involving
immune cells that could be removed from the body, edited, and then reintroduced
into the individual, Dr. Carroll observed.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Elaborating
on Dr. Carroll’s comments, <a href="https://iris.ucl.ac.uk/iris/browse/profile?upi=EJWIL36" rel="nofollow" target="_blank">Ed Wild, M.D., Ph.D.</a>,</span><span style="font-family: "Times New Roman",serif;"> another speaker at the HDSA
science panel and also a co-founder of HDBuzz, cited the example of a blood
cancer as a possible early target for CRISPR.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">He agreed
with Dr. Carroll that an HD CRISPR treatment remains difficult at this time and
underscored why: unlike parts of the body like blood cells or bone marrow,
brain cells cannot be removed, treated, and reinserted or given replacements.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Further
cautions</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">An August
2020 HDBuzz <a href="https://en.hdbuzz.net/289" rel="nofollow" target="_blank">article</a></span><span style="font-family: "Times New Roman",serif;"> also urged caution in the use of
CRISPR for HD and other genetic diseases in the wake of three experiments with human
embryos that resulted in “unintended changes in the genome.” These so-called
“off-target” effects suggest that “CRISPR is less precise than previously
thought,” the article stated. Like desired edits, the unwanted ones make
permanent changes to the DNA.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Such
unintended edits are “bad because our DNA code is a very precise set of
instructions, which can be thought of like a cooking recipe,” the article
explained. “If you rearranged the steps in a recipe or got rid of some of the
ingredients the outcome would not be good!”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">When
CRISPR is used in an embryo, the mistaken edits would not only affect that
individual, but could also be passed on to the next generation.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Clarifying
some key points</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As an HD
advocate and family member who has tracked the research for two decades, I felt
that <i>Code Breaker</i> could have gone into greater depth about HD science. Given all
the valuable detail about Dr. Doudna’s and other scientists’ efforts to discover
the workings of CRISPR, it would have been helpful to present some scenarios
about how it might work in HD.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">Code
Breaker</span></i><span style="font-family: "Times New Roman",serif;"> also
states that in HD the “wild sequence of excess DNA serves no good purpose.”</span><span style="font-family: "Times New Roman",serif;"> This is a
confusing term, as so-called “wild” type DNA in this context usually means “normal” DNA.
Isaacson might better have done better to avoid the use of this term, but
instead to emphasize that the normal huntingtin gene is essential for life and
brain cell stability, as HD research has demonstrated. Normal huntingtin is
present in all humans without the mutation and even in those who have inherited
a mutation from one parent, because the non-HD parent has passed on a normal copy
of the gene.</span>
</p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The book
could have further benefited from additional references to both the scientific
and social significance of the disease as presented in works such as Dr. Thomas
Bird’s <a href="http://curehd.blogspot.com/2020/12/a-veteran-neurologists-book-offers.html" rel="nofollow" target="_blank"><i>Can You Help Me? Inside the Turbulent World of Huntington Disease</i></a></span><span style="font-family: "Times New Roman",serif;">. There was also no reference to
the pathbreaking research on <a href="http://curehd.blogspot.com/2020/02/im-huntingtons-disease-gene-carrier-at.html" rel="nofollow" target="_blank">modifier genes</a>, which can hasten or delay the
onset of HD</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Contemplating
the ‘gift’ of life</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Citing the
philosopher Michael Sandel, Isaacson points out that finding “ways to rig the
natural lottery” of genetics could lead humanity to humbly appreciate the
“gifted character of human powers and achievements. […] Our talents and powers
are not wholly our own doing.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Still, I
agree with Isaacson that “few of us would regard Alzheimer’s or Huntington’s to
be a result of giftedness.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Even so,
it’s important to recall that HD researchers continue to investigate the role
of the huntingtin gene not only in the disease, but, in the words of one <a href="https://www.sciencedirect.com/science/article/pii/S235239641830118X" rel="nofollow" target="_blank">study</a>, in
intelligence and the “evolution of a superior human brain.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Faced with
the daunting challenges of the disease, many HD mutation carriers and affected
individuals have also grown in unexpected ways. I, for one, consider myself a
<a href="http://curehd.blogspot.com/2012/01/seven-years-of-striving-for-realistic.html" rel="nofollow" target="_blank">lucky man</a></span><span style="font-family: "Times New Roman",serif;"> because of the richer life I have
lived as a result of my family’s fight against Huntington’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">In this
new reality, advocating once again for our families</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">HD
families like mine have lived on the <a href="http://curehd.blogspot.com/2013/11/braving-bioethical-challenges.html" rel="nofollow" target="_blank">frontier of bioethics</a>,
facing challenges such as genetic testing, prenatal testing, genetic
discrimination, decisions on family planning, and many others.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Perhaps,
as <i>Code Breaker</i> speculates, gene editing may someday be considered
morally acceptable in the way that <i>in vitro</i> fertilization and PGD have
come to be.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However, as
seen in the case of abortion, the HD community does not have a monolithic
bioethical stance (click <a href="http://curehd.blogspot.com/2011/12/angel-fighting-for-cure-huntingtons.html" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> and <a href="http://curehd.blogspot.com/2011/12/kates-untested-baby-huntingtons-disease.html" rel="nofollow" target="_blank">here</a></span><span style="font-family: "Times New Roman",serif;"> to read more).</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">It remains
an open question as to whether the HD community would wholeheartedly embrace
CRISPR as a therapy. Some might celebrate it as a cure, but others might see it
as going against nature or even as a return to the era of eugenics in the early-
to mid-20th century, when medical professionals advocated sterilization for HD-affected
individuals. Taking a cue from the United States, the Nazis were said to have
forcibly sterilized as many as 3,500 people affected by Huntington’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">No book
can offer a definitive answer to these ethical quandaries. <i>Code Breaker</i>
provides us with at least some basic guideposts. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">It will
ultimately fall to HD-affected individuals and their families (and those
families affected by other diseases) to navigate what could very soon become
the new reality of gene editing – and, when necessary, to act as powerful
advocates. To assist us in this journey, we will need ethically informed health
professionals and patient organizations.</span></p><p><style>@font-face
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{page:WordSection1;}</style> <br /></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0tag:blogger.com,1999:blog-10081281.post-85208461927655398852021-05-16T01:11:00.000-07:002021-05-16T01:11:45.273-07:00‘Inequality is unsustainable’: a view of the quest for Huntington’s disease treatments from the Global South<p>
</p><p class="MsoNormal"><i><span style="font-family: "Times New Roman",serif;">(I
dedicate this article to the worldwide HD community as we mark Huntington’s
Disease Awareness Month in many countries around the planet.)</span></i><span style="font-family: "Times New Roman",serif;"></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Both the
COVID-19 pandemic and the quest for treatments for rare and genetic diseases
have laid bare deep social divisions across the world, and it behooves the
scientific establishment to help resolve this ethical dilemma, says a leading
Brazilian Huntington’s disease clinician.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“The world
should not be divided between those who have money and those who don’t,” Mônica
Santoro Haddad, M.D., a neurologist with 33 years’ practice at the Universidade
de São Paulo (USP) <a href="https://www3.fm.usp.br/fmusp/portal/" rel="nofollow" target="_blank">School of Medicine</a>, told me in an April 30 Zoom
<a href="https://vimeo.com/544170599" rel="nofollow" target="_blank">interview</a> about the 16th Annual <a href="http://curehd.blogspot.com/2021/05/the-first-at-bat-is-never-grand-slam.html" rel="nofollow" target="_blank">HD Therapeutics Conference</a>. “The pandemic has already shown us that. This
inequality is unsustainable.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr. Haddad
has assisted HD patients from 600 families at the USP neurology clinic and her private
office. A participant in the 2013 Therapeutics Conference in Venice, Italy, and
<a href="https://vimeo.com/87945795" rel="nofollow" target="_blank">2014 meeting</a></span><span style="font-family: "Times New Roman",serif;"> in Palm Springs, CA, she watched
all of this year’s three-day virtual event (April 27-29) online. The conferences are sponsored by <a href="https://chdifoundation.org/" rel="nofollow" target="_blank">CHDI Foundation, Inc.</a><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“What
we’re witnessing in Brazil [regarding the pandemic] is immoral – Brazil in
relationship to the world and Brazil in general,” Dr. Haddad observed, speaking
in her native Portuguese. “Two categories of people have been created: those
with the vaccine, those without the vaccine.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">A South
American giant struggles</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Sadly,
Brazil ranks second in the world behind the United States with more than
428,000 COVID-19 deaths.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As a
history professor, I have dedicated much of my career to the <a href="http://curehd.blogspot.com/2013/09/heading-to-rio-for-2013-world-congress.html" rel="nofollow" target="_blank">study of Brazil</a>,
a country that I consider my second home; my wife is Brazilian, and her
extended family is there. Along the way, I have witnessed the development of
the Associação Brasil Huntington and built <a href="http://curehd.blogspot.com/2013/09/reaching-out-to-hd-family-at-world.html" rel="nofollow" target="_blank">ties to its leaders</a>.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">A major
country of the Global South – the world’s developing countries – Brazil has an
estimated 20,000-plus afflicted individuals and an active HD movement. An
enthusiastic group of some <a href="http://curehd.blogspot.com/2017/04/preparing-for-heartening-milestone-in.html" rel="nofollow" target="_blank">30 Brazilians</a>
took part in #HDdennomore, Pope Francis’ special audience with the HD in May
2017. Francis, a native of Argentina, is also the first pontiff from the Global
South.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However, although
Brazil’s medical system has gained international recognition for past vaccine
campaigns and its model fight against AIDS, during the pandemic the country has
lacked hospital beds, cemetery plots, and basic supplies. Like Donald Trump,
Brazilian President Jair Bolsonaro <a href="https://www.reuters.com/world/americas/brazil-covid-19-inquiry-told-bolsonaros-blind-faith-chloroquine-2021-05-04/" rel="nofollow" target="_blank">denied the crisis</a>, downplayed the dangers,
and actively denounced such measures as mask-wearing</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In
addition, Brazil has fallen victim to the <a href="https://www.washingtonpost.com/world/interactive/2021/coronavirus-vaccine-inequality-global/" rel="nofollow" target="_blank">international inequities</a> in the
rollout of vaccines</span><span style="font-family: "Times New Roman",serif;">. Both U.S. President <a href="https://www.npr.org/sections/coronavirus-live-updates/2021/05/05/993998745/biden-backs-waiving-international-patent-protections-for-covid-19-vaccines" rel="nofollow" target="_blank">Joe Biden</a></span><span style="font-family: "Times New Roman",serif;"> and former Brazilian president
Luiz Inácio <a href="https://www.pbs.org/newshour/show/former-brazilian-president-says-bolsonaro-became-a-rogue-leader-botched-covid-response" rel="nofollow" target="_blank">Lula da Silva</a></span><span style="font-family: "Times New Roman",serif;"> – a likely candidate in the 2022 presidential
election – have backed waiving COVID-19 vaccine patents to assure global
access.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Brazil’s
deep internal disparities have led to <a href="https://www.washingtonpost.com/world/2021/05/09/coronavisus-brazil-vaccine-indigenous-quilombo/" rel="nofollow" target="_blank">inadequate vaccine distribution</a> to the
poor and marginalized</span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Recognizing
similar, longstanding neglect in other South American countries, the
humanitarian organization <a href="http://curehd.blogspot.com/2019/08/factor-h-partners-with-latin-american.html" rel="nofollow" target="_blank">Factor-H</a>
has continued to <a href="https://factor-h.org/blog/2020/3/29/in-solidarity-and-gratitude?rq=covid" rel="nofollow" target="_blank">assist</a> abandoned HD families during the crisis.<br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Providing
everybody access to medicines</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Echoing
her concerns about COVID-19, Dr. Haddad affirmed the need for a “change in the
paradigm” regarding rare and genetic diseases like Huntington’s.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As in the
U.S. and elsewhere, fear and denial frequently underlie Brazilians’ decisions
to avoid genetic testing and facing the terrible medical and social challenges
posed by the disease. Many Brazilians have “prejudice against disease” in
general, Dr. Haddad told me in a <a href="http://curehd.blogspot.com/2013/04/brazils-big-place-on-huntingtons.html" rel="nofollow" target="_blank">2013 interview</a></span><span style="font-family: "Times New Roman",serif;">.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">However,
the trend against testing might be shifting for the younger generations, and
could also change among older groups when the overall outlook for treatments
has improved, Dr. Haddad wrote in a May 14 WhatsApp message. Clinical trials
seeking presymptomatic HD gene carriers will require testing, she added.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Like
medical professionals in many countries, Dr. Haddad believes genetic testing is
a personal decision, with the procedure governed by established protocol and with
professional medical and psychological support.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">As of
April 2021, the Brazilian government has required all private health plans and
insurance to <a href="https://www.grupofleury.com.br/SitePages/noticia.aspx?n=256" rel="nofollow" target="_blank">cover genetic testing</a></span><span style="font-family: "Times New Roman",serif;">. This represented a “small advance,”
Dr. Haddad asserted in our Zoom interview, because health advocates want to see the country’s free public
health service also provide that benefit.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For Dr.
Haddad, for HD to be defeated, inequality must diminish.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“The
question is: is it ethical to diagnose someone with one of those diseases and
not have a treatment available?” Dr. Haddad said. “This
is a question that I discuss with my patients and with my colleagues.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">She added:
“It is certainly not ethical to have a treatment that not everybody has access
to.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">The HD Therapeutics Conference left her with her “hope battery recharged” and
confident that a treatment is possible, Dr. Haddad said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgeAJW4zTI_vzWIPVSpBaTaOmUW7p5NbCQgS2Vet4yvx-fRYo-sBrFGxZAGaFy2sziHrX_2bj52vio2QAhuNqfjGDIyrCSsZseZ5Hi4sK96yqBvcRgN-RSP9SuIX6lKz1YvKNXW_g/s1280/GV-MonicaHaddad_2021.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="382" data-original-width="1280" height="120" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgeAJW4zTI_vzWIPVSpBaTaOmUW7p5NbCQgS2Vet4yvx-fRYo-sBrFGxZAGaFy2sziHrX_2bj52vio2QAhuNqfjGDIyrCSsZseZ5Hi4sK96yqBvcRgN-RSP9SuIX6lKz1YvKNXW_g/w400-h120/GV-MonicaHaddad_2021.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Gene Veritas interviewing Dr. Mônica Haddad (screenshot by Gene Veritas, aka Kenneth P. Serbin)</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Advocating
for open science</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At the
close of the conference, Dr. Haddad was inspired by the
presentation by featured speaker <a href="https://www.thesgc.org/about/director" rel="nofollow" target="_blank">Aled Edwards, Ph.D.</a>,
who in 2004 founded the <a href="https://www.thesgc.org/about/what_is_the_sgc" rel="nofollow" target="_blank">Structural Genomix Consortium</a></span><span style="font-family: "Times New Roman",serif;"> (SGC), which practices and
advocates for open sharing of scientific information, particularly as it
applies to protein science, chemical biology, and drug discovery.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Edwards, the SGC CEO and a scientist based at the University of Toronto, spoke
on “HD drug discovery in the public domain – a model for CHDI.” A breath of
“fresh air,” Dr. Edwards’ talk pointed the way to reducing inequality, Dr.
Haddad told me.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“What we
would also like to do is develop a drug discovery ecosystem that prioritizes
affordability and global access, and, of course, to do this in collaboration
with industry,” Dr. Edwards stated. “Now this might sound naïve, but I’d like
to emphasize there’s quite a bit of drug discovery experience in the SGC and in
our network.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Edwards presented examples of researchers who have followed the open science
model – including 16 “HD open science programs” that share science “as they go,”
with some even blogging about their findings. He highlighted the work of <a href="https://hdsa.org/hd-research/spotlight-on-hd-researchers/dr-rachel-harding/" rel="nofollow" target="_blank">Rachel Harding, Ph.D.</a></span><span style="font-family: "Times New Roman",serif;">, an SGC researcher and
postdoctoral fellow at the University of Toronto who achieved the “very
challenging” task of purifying the huntingtin protein to a “resolution that is
practically useful” to other scientists.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Harding has widely shared both the protein and reagents (compounds that
facilitate chemical reactions) that enable the making of the protein,
ultimately aiming to inform the discovery of potential HD drugs, in particular so-called
small-molecule drugs, Dr. Edwards explained.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><a href="http://curehd.blogspot.com/2021/05/the-first-at-bat-is-never-grand-slam.html" rel="nofollow" target="_blank">Discussed</a>
at the Therapeutics Conference,
these drugs </span><span style="font-family: "Times New Roman",serif; mso-fareast-font-family: "Times New Roman";">become distributed very evenly across the whole body,
including the brain, whereas several drugs in other current or recently completed clinical trials need to
be injected directly into the brain or via spinal tap.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“This is a
really fantastic contribution to the public good that these folks have made,”
Dr. Edwards said of Dr. Harding’s team.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiCe2v5q6BK8wuBjF5xiN-k48gTKMRRkvD9EiqvM_JyODwvwDYdTBOsuUiLZJI75pJ0YpY0E5U4quGZvga1w3_rzk4a71uwBntFopWE3QW9lrw4nnNfne6egLdToPtUyjPs5b0Xng/s1280/HDOpenScienceChamps.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="714" data-original-width="1280" height="223" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiCe2v5q6BK8wuBjF5xiN-k48gTKMRRkvD9EiqvM_JyODwvwDYdTBOsuUiLZJI75pJ0YpY0E5U4quGZvga1w3_rzk4a71uwBntFopWE3QW9lrw4nnNfne6egLdToPtUyjPs5b0Xng/w400-h223/HDOpenScienceChamps.jpeg" width="400" /></a></div><br /><i>Sharing science as they go: Huntington's disease "open science champs" as presented by Dr. Aled Edwards, at upper right (screenshot by Gene Veritas)</i><p></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Seeking
more efficient drug discovery</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Edwards underscored a key point: despite spending $300 billion globally
each year on research and development and producing many hugely successful
drugs, the biomedical field is highly inefficient. “We need to do better as a
society,” he asserted.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“For many
diseases – Huntington’s, Parkinson’s, Alzheimer’s – we don’t even know the
molecular mechanism of the disease, let alone how to design a therapeutic
strategy,” Dr. Edwards said, adding that a system in which the “first past the
post gets the money” in designing drugs has required “the pricing of medicines
at levels that are unaffordable for most people on the planet.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Edwards displayed data demonstrating how globally most research focuses on the
familiar rather than explore new, potentially crucial areas of biology.
Similarly, in industry, companies pursue drugs in parallel rather than
collaborate, wasting valuable resources, he added. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">SGC is
working against the grain, trying to create the way for a new scientific
culture. The SGC never files for patents “as a core principle,” Dr. Edwards explained.
“All of the work we do goes into the public domain, including the reagents that
we make.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">If labs
and companies openly shared data before doing the final crucial test on a
potential drug in a Phase 3 trial, the field could not only save money, but
test multiple drugs at the same time, he said.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Rather
than rely on patents, the system should take advantage of federal laws that
give companies protection from competition for a fixed period, generally five
to twelve years, Dr. Edwards affirmed. The law provides even longer periods for
orphan and pediatric drugs.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Supporting
the public good</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“There is
no law of physics that says industry has to invent a drug,” Dr. Edwards said.
“That’s the social system that we’ve put in place. Let’s imagine a different
system.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">To “walk
the walk about open drug discovery,” SGC established the <a href="https://www.agoraopensciencetrust.org/" rel="nofollow" target="_blank">Agora Open Science Trust</a>, a registered charity in
Canada modeled on <a href="https://newmansownfoundation.org/" rel="nofollow" target="_blank">Newman’s Own Foundation</a></span><span style="font-family: "Times New Roman",serif;">, which funnels profits from food
products with the picture of the late Academy-Award-Winning actor into philanthropy.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Dr.
Edwards described its goal: “To support open science and the public good, and
price new medicines to ensure global access. Whether you’re a rich American or
live in Thailand, you’re going to get the medicine at a price you can afford.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">In its
first project, Agora has focused on children’s cancers. As of yet the trust has
not announced a plan for an HD drug program, although Dr. Edwards and the
above-mentioned HD open science researchers have an abiding interest in finding
treatments.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Indeed, regarding
those treatments, Dr. Edwards concluded that “if we do it as a collective,
we’ll get further faster.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><br /></span></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbkyXGngBozuefp0ucrQ6huJzy8HGjAho5oGHNIUiWoFhuBv5aCQlsVlk6m-8rTOTy_957mj9MuUNDBsGhhhdBRRd6Wj-JQOG5goa49wIdgRNC45ecXcJMwmLu1RgijepTlL1dFg/s1280/AgoraOpenScienceTrust.jpeg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="690" data-original-width="1280" height="215" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbkyXGngBozuefp0ucrQ6huJzy8HGjAho5oGHNIUiWoFhuBv5aCQlsVlk6m-8rTOTy_957mj9MuUNDBsGhhhdBRRd6Wj-JQOG5goa49wIdgRNC45ecXcJMwmLu1RgijepTlL1dFg/w400-h215/AgoraOpenScienceTrust.jpeg" width="400" /></a></div> <p></p><p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"><i>Dr. Aled Edwards explains the creation of for-profit drug companies to fund the Agora Open Science Trust, whose mission is to ensure global, affordable access to new medicines (screenshot by Gene Veritas).</i><br /></span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><b><span style="font-family: "Times New Roman",serif;">Knowledge
belongs to the world</span></b></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">If Dr.
Edwards and SGC achieve their goals, they will have a place in history, Dr.
Haddad observed. The emphasis on sharing data will “democratize” knowledge, she
added. </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“It’s
obvious that a company does things to earn money,” Dr. Haddad continued. She
noted, however, that Dr. Edwards is asking scientists and others to put their
vanity aside to help the suffering.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">Brazil has
not yet hosted, and may not host in the future, any sites for the major HD
clinical trials, Dr. Haddad pointed out. She noted that the local HD community
attempted to bring to Brazil the historic Phase 3 gene silencing clinical trial
by Roche, which <a href="http://curehd.blogspot.com/2021/04/roche-confirms-tominersen-as.html" rel="nofollow" target="_blank">reported the unfavorable results</a> at the HD Therapeutics
Conference</span><span style="font-family: "Times New Roman",serif;">. In South America, Roche ran the trial in Argentina
and Chile.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">“We did
the paperwork to try to include a Brazilian research center, and because of
questions raised by an ethics committee and political and legal issues, we were
unsuccessful,” Dr. Haddad explained. “Brazil did not permit genetic material [from the clinical trial] to be sent out of the country.”</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">For now, Dr.
Haddad said, Brazilians can at least look forward to the possibility of their
government’s authorization of the drug <a href="https://www.austedo.com/" rel="nofollow" target="_blank">Austedo</a>,
approved by the U.S. Food and Drug Administration in 2017 for chorea, the
involuntary movements that occur in many HD-affected individuals.</span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;"> </span></p>
<p class="MsoNormal"><span style="font-family: "Times New Roman",serif;">At this time, Brazil’s
lack of participation in clinical trials of drugs that aim to slow or stop the disease is “not important,” Dr. Haddad concluded. Echoing Dr. Edwards – and
the hope of thousands of Brazilian HD families anxiously awaiting the arrival of
effective treatments but fearful that the country might not be able to afford
them – she added: “The knowledge obtained belongs to the world.”</span></p><p><style>@font-face
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{page:WordSection1;}</style> <br /></p>Gene Veritashttp://www.blogger.com/profile/10911736205741688185noreply@blogger.com0