Hacking humans, upgrading Homo sapiens: the role of the Huntington’s disease community and the consequences for life

An influential book by best-selling historian Yuval Noah Harari, Homo Deus: A Brief History of Tomorrow, looks broadly at potential medical advances, thus providing hope for the Huntington’s disease community’s quest for a cure, but it also warns of the vast consequences for human life caused by the advance of biotechnology and the accumulation and control of data.

A professor in the History Department at the Hebrew University of Jerusalem and holder of a Ph.D. from the University of Oxford, England, Dr. Harari published the international blockbuster Sapiens: A Brief History of Humankind. Sapiens was first published in Hebrew in 2011 and was translated into nearly 50 languages, selling over 10 million copies by 2018.

In Sapiens, Dr. Harari uses macro-history (also known as “big history”) and biological evolution to explain the development of human society over the past several hundred thousand years. He focuses in particular on the “cognitive revolution” that began 70,000 years ago. During this period, the modern human species, Homo sapiens, came to dominate Earth.

“Homo sapiens” is Latin for “wise man.” “Deus” means “god.” In Homo Deus, first published in English in 2016, Dr. Harari projects current trends deep into the 21st century and speculates that humanity could double average life expectancy to 150 years. He also considers the profound changes longer lives would bring such as people in positions of authority stretching out their careers and thus cutting off opportunities for younger individuals.

Ultimately, in this century humanity may seek immortality by developing new biomedical tools and implants, fusing our bodies with high-tech machines, and perhaps also creating non-organic beings.

“You may debate whether it is good or bad,” Dr. Harari writes, “but it seems that […] the twenty-first century will […] involve re-engineering Homo sapiens so that it can enjoy everlasting pleasure. In seeking bliss and immortality humans are in fact trying to upgrade themselves into gods. Not because these are divine qualities, but because in order to overcome old age and misery humans will first have to acquire godlike control of their own biological substratum [bedrock].”

A new scientific dogma: we are algorithms

The idea of ending disease and extending life, even if by only a few years, stirred the depths of my being. The fear of death propels our psyches and civilization. In the Huntington’s community, where the disease’s devastating and fatal symptoms cut off down lives early, the fear of death is ever-present and more acute. I recalled my mother’s death from HD in 2006 at 68 and my condition as an HD gene carrier. At 59, each day without symptoms is a blessing.

Homo Deus also reminded me of my 2010 article “God, Huntington’s disease and the meaning of life,” in which I examined the Catholic Church’s little-known and little-understand acceptance of evolutionary theory and the notion that the Resurrection of Christ could be seen as a genetic mutation.

However, in Homo Deus Dr. Harari also warns that current trends in biotechnology and the gathering and control of data could also lead to the creation of a super-human elite taking control of the rest of humanity, threatening privacy, democracy, and human and civil rights.

“If indeed we succeed in hacking and engineering life, this will be not just the greatest revolution in the history of humanity,” Dr. Harari told the audience at the 2018 World Economic Forum Annual Meeting in Davos, Switzerland. “This will be the greatest revolution in biology since the very beginning of life 4 billion years ago.[…]

“Science is replacing evolution by natural selection with evolution by intelligent design. Not the intelligent design of some god above the clouds, but our intelligent design, and the intelligent design of our clouds, the IBM cloud, the Microsoft cloud. These are the new driving forces of evolution.”

Yuval Noah Harari in 2017 (photo from Wikimedia Commons)

In Homo Deus, Dr. Harari explains that “science is converging on an all-encompassing dogma, which says that organisms are algorithms” – a method or list of instructions for making calculations – “and life is data processing.”

“Humans are algorithms that produce […] copies of themselves,” he adds. The influence of computer algorithms designed by organizations such as Google has grown vastly, taking in fantastic sums of personal data for users of the Internet and personal devices. “Non-conscious but highly intelligent algorithms may soon know us better than we know ourselves.”

In their digital lives, over 2 billion Facebook members have encountered that organization’s problematic algorithm, which a company study found to be a better reader of people’s personalities than even their friends, parents, and spouses, Dr. Harari points out.

Crucial data from HD families

Homo Deus doesn’t mention HD. However, it recognizes the importance of Alzheimer’s disease and the need to prevent it and disease in general. Dr. Harari explains that upgrading humanity would include attempts to expand the abilities of the brain – which, of course, is an organ severely debilitated by HD.

The history of the search for HD treatments is key to the biotechnological revolution. HD-affected individuals and their families have both witnessed and participated in that revolution, starting with the hunt for the huntingtin gene in the 1970s, 1980s, and 1990s, and since then with a growing number of research studies and clinical trials involving thousands of individuals.

At the start of this decade, CHDI Foundation, Inc., the nonprofit virtual biotech focused on defeating HD, pioneered the use of systems biology, which includes the deciphering of vast amounts of biological data, in disease treatment (click here to read more).

CHDI has also collaborated with IBM to seek deeper understanding of the huntingtin protein’s role in the disease. In this effort, IBM has provided its immense computational power and the tools of big data analytics.

Enroll-HD, the CHDI-sponsored worldwide database of HD-affected individuals and family members, has more than 17,000 participants. Thousands of HD-affected individuals and gene carriers have also participated in the research involving the search for so-called modifier genes that affect the age of onset. The scientists have analyzed millions of small variations in these people’s genes.

Digital monitoring and algorithms

An increasing number of researchers and companies are in effect trying to hack HD’s genetic causes. The most prominent is the gene-silencing drug developed by Ionis Pharmaceuticals, Inc., in collaboration with CHDI and other researchers. On December 19, pharma giant Roche, now the drug’s license-holder, announced the first 26 planned sites for the crucial global Phase 3 trial to test the drug’s efficacy.

In that trial, participants will receive the drug via lumbar puncture (spinal tap), the first time this delivery method is being used extensively in an attempt to treat a neurological disorder.

For the study, Roche has designed an HD Digital Monitoring Platform, which will continually measure participants’ biometric data using smartphones and watches.

“The software is what’s special, and the analytics engine behind it,” Erik Lundgren, the Roche lifecycle leader of the HD team, said in an interview last March. “A tremendous amount of data comes in. The algorithms and how you make sense of that is what our team has been working hard on developing.”

A graphic illustrating the Roche HD Digital Monitoring Platform (source: Roche)

Privacy versus healthcare systems

As Dr. Harari warns, the purpose and uses of technologies and information-gathering techniques originally developed for something positive such as curing a disease could result in unintended, perhaps negative, consequences.

Companies such as Google “want to go much deeper than wearables,” he explains.

“If we give Google and its competitors free access to our biometric devices, to our DNA scans and to our medical records, we will get an all-knowing medical health service that will not only fight epidemics, but will also shield us from cancer, heart attacks and Alzheimer’s,” he writes.

However, he observes, “imagine a system that, in the words of the famous Police song, watches every breath you take, every more you make and every bond you break; a system that monitors your bank account and your heartbeat, your sugar levels and your sexual escapades. It will definitely know you much better than you know yourself.”

Google and these other algorithm-based systems could make decisions for us, from selecting which movie to watch to choosing a spouse to settling on a candidate in the voting booth.

In a world in where the stress on data takes on a religious fervor, the demand for the free and massive flow of information could trump freedom of expression and, by extension, people’s right to control their own information, Dr. Harari asserts. He cites pressure from “Dataist missionaries” for free access to all information, including copyrighted materials.

The danger is that “we will just have to give up the idea that humans are individuals, and that each human has a free will determining what’s good, what’s beautiful and what is the meaning of life.” 

“The big battle over what we today call ‘privacy’ will be between privacy and health,” Dr. Harari asserted at the World Economic Forum. “Do you give access to what is happening inside your body and brain in exchange for far better health care? And my guess is that health will win, hands down.[…] Maybe in many places [people] won’t have a choice. They won’t get insurance if they are unwilling to give access to what is happening inside their body.”

What kind of world are we creating?

Because of the many critical issues it touches on regarding humanity’s future, Homo Deus is a must-read book.

For the HD community, it provides valuable context for the difficult medical, social, and ethical challenges involved in the disease and the quest for treatments.

As many in science strive, in Dr. Harari’s words, to “defeat death and grant humans eternal youth,” the complexities of HD and the close collaboration between HD scientists and families may serve as a reminder that the biotechnological and medical sectors should consult disease communities and the rest of society.

Yes, despite having back problems, to avoid HD onset I would take a drug via recurring spinal taps. I would also wear a data monitor, as do people with type 1 diabetes, for example.  

However, I’m also concerned about the dystopian scenarios outlined by Dr. Harari for this century.

What kind of world are we creating for our children and grandchildren?

Riding the advocacy revolution: stem cell activists, the future of CIRM, and public awareness

If the promise of stem cells to treat a myriad of diseases – a potential outlined in my first of two reports on the sixth World Stem Cell Summit – is to be fulfilled, advocates and patient organizations must exercise effort and expertise in helping steer the research.

Starting with AIDS-related patient advocacy, a “revolution” has occurred over the past two decades in how patients have related to their doctors and the pharmaceutical industry, said Kevin McCormack, the senior director of Public Communications and Patient Advocate Outreach for the California Institute for Regenerative Medicine (CIRM). CIRM was one of the leading co-sponsors of the summit, held last month in San Diego.

“This is a really exciting time and really interesting time in medicine,” McCormack said, introducing a panel on patient advocacy and stem cell research on December 5. “There’s a lot of change going on. Part of it is due to all the advances that have been taking place, all the progress that is being made in many different fields, but obviously in stem cells in particular. That’s why we’re here.

“There’s also a change in the way we’re engaged. In the past it was a very paternalistic system, for want of a better word, where you went to the doctor, and the doctor said, ‘This is what you have,’ and then the doctor said, ‘This is how we’re going to treat you.’”

Now, said McCormack, that has changed. “Patients and patient advocates are really demanding more of a role, more of a voice, beginning with HIV-AIDS, where people just didn’t want to wait around ... to get the therapies,” he said. “And so they pushed and advocated and demanded in every part of the decision-making process.”

Beyond the key issue of Huntington’s disease advocacy, this article also addresses the future of the world-leading, public-bond-supported CIRM and the need for greater public education about the stem cell field, including safety concerns.

Show up, get involved

Judy Roberson, RN, one of California’s leading HD activists, led off the above-mentioned panel with a simple but crucial tenet of advocacy: “Show up for things. Show up for meetings like this. Join support groups and national organizations…. When you get involved, opportunities come your way.”

Such opportunities become available because major “decision-makers” usually attend scientific meetings such as the Huntington’s Study Group conference she keynoted in 2009, Roberson pointed out.

As a result, Roberson, then the president of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA) and head of the Joseph P. Roberson Foundation (founded by and named for her HD-stricken brother-in-law), was invited by the Food and Drug Administration (FDA) to become an FDA HD advocate. The FDA oversees clinical trials for drugs and approves treatments. Roberson’s husband Tim died of HD at the age of 51.

“You’ll never get anything unless you ask for it,” Roberson continued, recounting how in the early 1990s she approached her neighbor, California State Senator Mike Thompson, to seek support for Huntington’s programs. Thompson, who headed the legislature’s powerful budget committee, helped allocate $1 million for HD programs over a period of five years. Thompson now serves in the U.S. Congress.

More recently, Roberson and other California HD advocates worked to help Drs. Vicki Wheelock and Jan Nolta of the University of California, Davis, secure a $19 million grant to conduct research towards a stem cell trial for HD, as mentioned in my previous article on the summit and detailed in a 2012 article.

You can watch the Stem Cell Summit advocacy panel, including Roberson’s speech, in the video below.

How Patients and Patient Organizations Are Impacting Advances in Stem Cell Research and Regenerative Medicine from Gene Veritas on Vimeo.

An eye-opening experience

For Katie Jackson, also of Sacramento and the vice president for Help4HD-International, a newly emerging patient and family support organization, the summit opened up a new world. Jackson’s husband was diagnosed with HD in 2006. The couple has two untested children with a 50-50 chance of inheriting the HD mutation.

“This summit has been so eye-opening and so amazing,” Jackson told me in an interview on December 5. “I thank the California Institute for Regenerative Medicine for sending me here….  From the second you wake up in the morning till the second you go to bed, you’re amongst these innovator-researchers that are just changing the world.”

Jackson said she was excited to be “part of the medicine that’s today, and that is regenerative medicine…. People are starting to understand that this is important stuff.”

The Stem Cell Summit left Jackson with a feeling of great hope, she said.

“There are a lot of people that are working hard to find therapies and possibly the cure,” she said. “Hopefully this is the last generation of Huntington’s disease.”

You can watch the entirety of our interview in the video below.

Huntington' Disease Advocate Katie Jackson at the World Stem Cell Summit: An Interview with Gene Veritas from Gene Veritas on Vimeo.

The center of the stem cell universe

As stated by outgoing CIRM President Dr. Alan Trounson in his keynote speech on December 4, numerous CIRM-supported projects are putting the drive towards stem cell treatments into “high gear.”

According to Jonathan Thomas, the chair of the Independent Citizens’ Oversight Committee (ICOC), CIRM’s governing board, the agency is currently funding research regarding 40 incurable diseases and conditions. That research is part of projects funded at 70 different California universities, research institutions, and biotech companies.

Critically, these efforts aim to get potential therapies into human clinical trials, the final, crucial step before the FDA can approve a drug.

CIRM, approved in a 2004 statewide vote on Proposition 71, has so far spent $1.85 billion of its mandated $3 billion budget, funded by state-issued bonds.

California was already “loaded” with research talent, Thomas observed in a CIRM public forum on December 3, “but the fact that CIRM is here has enabled the state to attract senior stem cell scientists from all over the world just to have the opportunity to get funded for their work.”

Thanks to CIRM, California has become “the center of the stem cell universe” and the “envy of the rest of the world because of what the voters have enabled us to do,” Thomas continued.

“No other state has been able to duplicate this,” he said. “There are smaller efforts that are funded either by annual appropriations by state legislatures or largely funded through philanthropic gifts or whatever. No place has the bonding authority we do.”

Keeping the research pipeline open

CIRM will fund its final round of projects by 2017. Actual administration of the grants will extend to about 2021, McCormack said.

“But obviously the key question here is: what about funding the research that’s already in the pipeline, about the kind of exciting progress that we’ve made that we don’t want to see wither and die, because if we go away, who’s going to fund it?” he said.

McCormack explained that continued support for the early and middle stages of a project enables the researchers to avoid the so-called “valley of death” – a lack of funds preventing the scientists from approaching large drug companies to promote the idea of the large, expensive, and sometimes lengthy Phase III clinical trials, the final stage before FDA approval.

“We’re looking at a number of different ways of getting new money – private funding, philanthropy, a number of different choices that we’ll be exploring,” McCormack said. “We’re not ready to go public yet with some of the things we’re looking at, but hopefully we’ll be able to find some way of continuing this research.”

“I hope with all my heart that we can go for a part 2 of Proposition 71,” said panel member Don Reed, a leader in the 2004 effort, who became active in the cause because of his son Roman’s paralysis resulting from a college football accident in 1994. “It’s going to be the greatest stem cell battle in the history of the world, and if we win, there’s just going to be unbelievable stuff that will happen…. Support it. Send letters to the editor. Fight every we you can.”

Roberson noted that Prop 71 originator Bob Klein’s comments at the Stem Cell Summit included plans for an “advocate boot camp” in support of CIRM. Klein served as the first chair of the ICOC from 2004-2011.

Panel member Alex Richmond, an advocate for treatment of children’s neurological disorders and the executive director of Children’s Neurobiological Solutions, observed that, as a public agency, CIRM cannot advocate for its own existence. “So it puts more pressure on organizations like ours and individuals like you, individual scientists that are out there, to be really as good an advocate as they can,” he said.

Public education critical

Researchers speaking at the CIRM public forum and presenting projects at the Stem Cell Summit both emphasized the need for greater public understanding of stem cell science.

In addition to reports on specific diseases such as Parkinson’s, AIDS, and cancer, the public forum provided easily understandable introductions to stem cell basics, focusing on such themes as adult stem cells, pluripotent stem cells (which can become any kind of cell type), and cell replacement therapy.

You can watch videos of all the public forum presentations, as well as a number of other panels and presentations of the summit, by visiting my 2013 World Stem Cell Summit video album, to which I've just added twelve more presentations.

To promote stem cell education, two researchers presented a poster titled “Developing an Easy-to-Understand Booklet for the General Public to Discuss Issues in Stem Cell Research.” Authored by Keiko Sato, Ph.D., and researcher Mie Samura of Kyoto University, Japan, the project seeks to correct misinformation and misunderstanding about the field.

“Misleading information released by the media is a routine problem for stem cell research stakeholders,” they stated on their poster, which refers to Japan but can be applied to the U.S. and other cultures. They cited the examples of embryonic stem cells, reported in some media outlets as being “created by destroying fertilized eggs intended to become babies.”

The book will appear in Japanese and also online in English.

Dr. Keiko Sato (right) and researcher Mie Samura at their poster about stem cell education (photo by Gene Veritas)

Their poster also warned about the “hype” surrounding unproven stem cell treatments, sometimes leading to “unexpected side effects” in patients who try them.

“Thus, the current situation has the potential to undermine the relations of mutual trust between researchers and the general public about stem cell research,” the authors wrote.

The poster “Stem Cell Clinics and the Internet,” by Dr. Ruairi Connolly and two collaborators from the National University of Ireland, further underscored the dangers of unproven treatments offered by online clinics.

“Despite a lack of appropriate accreditation, (such) clinics report major clinical improvements and the curative potential of treatment,” they wrote. “The provision of stem cell therapies in such an unregulated online environment is jeopardising the development of this nascent branch of medicine and offers a substantial risk to both the health of patients availing of these treatments and to the credibility of long term research in this domain.”

Dr. Ruairi Connolly with poster about unaccredited, online stem cell clinics (photo by Gene Veritas)

(Disclaimer: I received a stem cell summit scholarship from CIRM, which covered the cost of registration. CIRM officials did not in any way influence or control what I have written here.)