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 nuclear war have brought the world to a turning point.
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.
The war has produced searing images of Ukrainian families living underground or fleeing their country by the hundreds of thousands.
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.
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 fortitude and collaboration.
Along the way I listened to The Tipping Point, the new, long-awaited album by Tears for Fears, one of my favorite bands, and pondered the poignant interview they gave about their album’s relevance to the present moment.
What I have termed the “Huntington’s disease movement” has highlighted caregiving, the alleviation of physical and mental suffering, and the harnessing of science for societal good.
These sentiments are especially appropriate at the start of the conference, February 28, Rare Disease Day.
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.
Writing the history of the HD movement
As an HD mutation carrier and advocate, I have shifted my focus as a professional historian from the country I consider my second home, Brazil, to the history of science, technology, and medicine.
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.”
“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.”
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.
A visit with scholar Alice Wexler
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.
Alice Wexler wrote Mapping Fate, the key historical account about the discovery of the gene. She also authored The Woman Who Walked into the Sea, which describes the of development of medical understanding of HD in the 20th century and the stigma and discrimination associated with the disease.
In October, Columbia University Press will publish her latest work, The Analyst, a memoir of her late father Milton Wexler. A psychoanalyst, he founded the Hereditary Disease Foundation (HDF) in 1968 after his wife Leonore was diagnosed with HD.
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.
Dr. Wexler also shared with me news clippings and other documents related to the HD movement.
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.
Alice Wexler and Gene Veritas, aka Kenneth P. Serbin, in Santa Monica, CA, February 21, 2022 (personal photo)
My eleventh CHDI meeting
This will be my eleventh HD Therapeutics Conference, which is sponsored by CHDI Foundation, the nonprofit virtual biotech firm that grew out of the HDF and is dedicated solely to developing HD therapies. I keynoted 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 Parker Palm Springs, but under a tent on one of the hotel’s large lawns instead of inside.
As a pre-meeting reception on February 27 held by CHDI at the Villa Royale, 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.
I also conversed at length with Daniel Claassen, M.D., M.S., a professor of neurology at the Vanderbilt University Medical Center.
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.
Fighting for human well-being
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.
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.
At one point, I heard my mother on the phone crying and complaining to a friend that she could not stand having me around.
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.
My mother was diagnosed with HD six years later, in 1995.
“It wasn’t my mother’s fault!” I said with great sadness about her emotional difficulties.
At the Therapeutics conference, we will all be renewing our commitment to defeat HD and other neurodegenerative conditions.
For me, this is our contribution to human well-being.
Dr. Daniel Claassen (left) and Gene Veritas (photo by Simon Noble, Ph.D., director, scientific communications, CHDI)
Charlotte Raven, a brave keynote speaker
The conference got under way the evening of February 28 with a profoundly moving presentation by keynote speaker Charlotte Raven, a renowned British journalist, commentator, and author whose work has appeared in The Guardian, New Statesman, and Modern Review.
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.
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 (click here to read more).
Joined in the presentation by her son John, daughter Anna, and her neurologist, Ed 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.
With many of the nearly 300 conference participants crying at the end, Charlotte received a standing ovation.
Roche will present two reports on its efforts on the conference’s final day, March 3.
A future article will feature Charlotte’s story, including a video of her keynote.
Assisted by son John, Charlotte delivers her keynote address (photo by Gene Veritas).
No comments:
Post a Comment