In 2010, Sonia Vallabh watched her 52-year-old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, Sonia learned that her mother’s disease had been a genetic prion disease and that she, herself, had inherited the causal mutation (D178N-cis129M) in the prion protein gene (PRNP). She was 27 at the time and a recent Harvard Law School graduate.
Her husband Eric Minikel was an MIT-trained city planner and engineer who was working as a software engineer and data analyst in the transportation sector when Sonia, the love of his life, got her diagnosis.
Because the mutation is highly penetrant, Sonia is exceptionally likely to develop the disease unless a treatment or cure is found. The mean age of disease onset for her mutation is age 50, only about 20 years from the time of her diagnosis. Currently, there is no prevention, treatment, or cure available for the disease.
Despite having no biology training, the couple set out to retrain themselves as scientists and devote their lives to searching for a treatment or cure for Sonia’s disease. They began taking night classes, reading papers, calling up scientists, and attending conferences.
Then, they left their old careers for new jobs in research labs, and eventually enrolled as Ph.D. students in biological and biomedical sciences at Harvard Medical School. They are currently working side-by-side in Stuart Schreiber’s laboratory at the Broad Institute of MIT and Harvard where they have launched a new therapeutic initiative to discover drugs that can treat her disease. They now realize what once seemed an impossible dream: to wake up each day and work together searching for a treatment or cure for Sonia’s disease.
Sonia and Eric are the winners of the 2016 GETy Participant Pioneer Award for their project, “A personal quest to cure prion disease.” The award will be presented to them at the April 25, 2016 GET conference at Harvard Medical School in Boston.
GET and participatory research
The GET Conference (“GET” stands for “Genomes, Environments, Traits”) is organized by the non-profit PersonalGenomes.org, a leader in the participatory research movement, that aims to accelerate scientific discoveries by making much more data available to everyone.
Jason Bobe, Founder and CEO of Personal Genomes, notes,
“Active participation in organized health research is largely a fringe activity with far too few people engaged.”
Researchers increasingly face problems recruiting individuals to participate in studies. In fact, participation rates in the US have been dropping, according to a 2011 report by researchers at Wayne State University School of Medicine.
Jason goes on to say,
“We know that precision medicine and wellness will only be achieved if we can make participation in research more mainstream, or even a population-scale phenomenon.”
The premise of the movement is that more individuals will join scientific studies if they are empowered with the choice to access and share their data. The greater availability of shared data will allow scientists to conduct more studies and produce more robust and meaningful results.
Participants at the annual GET scientific conference debate the technical, commercial, and societal impacts of advances in the ability to measure and understand people and their traits through expanded participatory research. It is open to scientists, science enthusiasts, quantified-selfers, people who are affected directly or indirectly by health challenges, and anyone who recognizes the importance of participating in research.
Attendees can learn about the best participatory health research studies available today and they can advance human health through direct participation in up to 18 different studies examining everything from the microbes in our guts to toxic chemicals in our urine. Information about attending the conference can be found at http://www.getconference.org.
The GETy Awards
The winners of the GETy Awards honor individuals who are at the forefront of the participatory research revolution that its proponents hope will radically accelerate the rate of human health advances. There are 6 categories of awards:
- The Pioneer Participant Award
- The Communications Award
- The Diversity Award
- The Governance Award
- The Toolmaker Award
- The Sharing Award
The other award winners
Here are brief descriptions of the other winners and their projects:
STAT is an online publication that takes a hard-nosed investigative approach to covering the revolution in biomedical research; healthcare policy and politics; and human health. STAT aims to deliver fast, deep and tough-minded journalism, taking readers inside science labs and hospitals, biotech boardrooms and political backrooms. STAT dissects crucial discoveries. It examines controversies and punctures hype.
STAT was started by John W. Henry, the owner of the Boston Globe (as well as the Boston Red Sox and Liverpool Football Club) and the investment firm John W. Henry & Company. He launched STAT in 2015 because he felt that important stories in the life sciences were not being covered, or covered well, by the press.
STAT is being honored with the Communication Award.