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.
The PRIDE Study (Population Research in Identities and Disparities for Equality) is a longitudinal, online, health study of lesbian, gay, bisexual, transgender, queer (LGBTQ), and other sexual and gender minority (SGM) adults in the United States. Based at the University of California, San Francisco (UCSF), The PRIDE Study aims to improve health disparities and the well-being of these diverse communities through better understanding of factors that positively and negatively influence physical and mental health.
Over 45 LGBTQ-focused community-based organizations, community centers, health clinics, and national professional organizations are partnering with The PRIDE Study to form a participant-powered network committed to improving LGBTQ health through research called PRIDEnet. These organizations and their constituents are collaboratively developing The PRIDE Study’s research questions and community engagement plans. Using advanced and emerging technologies to improve participation and simplify data collection, personalized interactive user experiences facilitate easy engagement and promote participant retention for years. Co-directors of the study are Mitchell R. Lunn, MD and Juno Obedin-Maliver, MD, MPH at the University of California San Francisco (UCSF).
Dr. Lunn is an Assistant Professor in the Division of Nephrology of the Department of Medicine at the UCSF and Principal Investigator of PRIDEnet, a participant-powered research network devoted to sexual and gender minority (SGM) health. He is a long-standing advocate for SGM inclusion in research and higher education who lectures around the country on SGM medical education, SGM health, and SGM community engagement.
Juno Obedin-Maliver, MD, MPH is a Clinical Instructor of Medicine at UCSF and a Clinical Research Fellow in Advanced Women’s Health at the San Francisco Veterans Affairs Medical Center. With more than 15 years in SGM health, she is a recognized opinion leader and researcher in the field. She has extensive experience in community engagement practices that facilitate methodologically sound clinical research for hard-to-reach populations. She is a practicing clinician with a dedicated interest in SGM health and long-standing commitment to supporting diversity in clinical practice, education, and research at UCSF.
The Pride Study and its researchers are receiving the Diversity Award.
The Participant-Centered Consent (PCC) Toolkit was developed and maintained by Sage Bionetworks. The toolkit is built for people who are designing clinical studies and who wish to make their informed consent user-centered rather than document-centered. It contains the building blocks of a visual, interactive approach to informed consent; and, it helps create visual summaries of consent forms, mapped to key underlying text, for use in software or print. Using a mixture of icons and text labels can convey the essential concepts of a study in a more intuitive manner and help both sides of the consent conversation move closer to the goal of informed choices. More than 27 clinical studies have implemented visual consent in mobile studies.
John Wilbanks is the Chief Commons Officer at Sage Bionetworks. Previously, Wilbanks worked as a legislative aide to Congressman Fortney “Pete” Stark, served as the first assistant director at Harvard’s Berkman Center for Internet & Society, founded and led to acquisition the bioinformatics company Incellico, Inc., and was executive director of the Science Commons project at Creative Commons. In February 2013, in response to a ‘We the People’ petition that was spearheaded by Wilbanks and signed by 65,000 people, the U.S. government announced a plan to open up taxpayer-funded research data and make it available for free. Wilbanks holds a B.A. in philosophy from Tulane University and also studied modern letters at the Sorbonne.
The PCC toolkit is receiving the Governance Award.
ResearchKit is an open source software framework designed by Apple that turns iPhones into a powerful tool for medical research. It helps doctors, scientists, and other researchers gather data more frequently and more accurately from participants anywhere in the world. Dr. Yvonne Chan is the principal investigator of the Asthma Mobile Health Study which was the first study to use ResearchKit to advance asthma research.
Dr. Chan is a board-certified Emergency Medicine physician with a Ph.D. in clinical research as well as experience in mobile health applications, personalized medicine, pharmacogenomics, genomics, clinical trials, and patient education. She is the Director of Personalized Medicine (PM) and Digital Health (DH) at the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai. Her role is to lead the Institute in study design, execution, and management of all DH and PM related initiatives conducted at the Icahn Institute.
Dr. Chan is being honored with the Toolmakers Award.
Genes for Good is a research study conducted by Scott Vrieze at the University of Michigan. The major goal of the study is to engage tens of thousands of individuals in genetic research. The primary tool to accomplish this is the Genes for Good Facebook App. Participants engage in the study through the app, answer health-related questions, and view summaries of selected survey questions.
Genes for Good is a valuable step toward understanding the complex interplay between genes and the environment that can result in disease. Phenylketonuria (PKU) is an example of such a disease. People with PKU have a genetic mutation, but don’t develop the disease unless they ingest phenylalanine, an amino acid that is common in certain foods. Many other diseases result from this type of interaction, but they are numerous, varied, and much harder to measure.
Scott Vrieze is now an Assistant Professor of Psychology & Neuroscience, and Faculty Fellow at the Institute for Behavioral Genetics, University of Colorado Boulder. His research investigates the nature and origins of mental illness and health behavior.
Scott Vrieze is being honored with the Sharing Award.