PRECISION HEALTH MEETING
Vence L. Bonham, Jr.
Vence L. Bonham, Jr. J.D. is the senior advisor to the director of the National Human Genome Research Institute (NHGRI) on genomics and health disparities. Mr. Bonham is also an associate investigator in the National Human Genome Research Institute’s (NHGRI) Division of Intramural Research’s Social and Behavioral Research Branch. He leads the Health Disparities Unit, which investigates the equitable integration of new genomic knowledge and precision medicine into clinical settings. His research focuses primarily on the social implications of new genomic knowledge, including the role of genomics in exacerbating or ameliorating racial and ethnic health inequities.
He received his bachelor’s degree from Michigan State University and his Juris Doctor degree from the Moritz College of Law at Ohio State University. Prior to joining the National Human Genome Research Institute at the National Institutes of Health, Mr. Bonham was a tenured faculty member at Michigan State University with appointments in the Colleges of Medicine and Law.
Rory Collins is an epidemiologist who studies how to prevent and treat cardiovascular disease in large population-based studies. He trained in Medicine at St Thomas’s Hospital Medical School, London University, and Statistics at George Washington and Oxford Universities.
During the 1980s and early 1990s, Rory coordinated the ISIS “mega-trials” of the emergency treatment of heart attacks involving more than 130,00 patients. These trials showed that clot-dissolving and clot-preventing treatment could more than halve mortality, and these treatments rapidly became part of routine care (and paved the way for non-pharmaceutical approaches to opening coronary arteries).
Since the early 1990s, he has been involved in conducting large-scale randomized trials of the effects of modifying blood levels of cholesterol. For example, the 20,000 patient Heart Protection Study that he led showed that lowering LDL-cholesterol with statin therapy safely reduces the risk of death and disability from heart attacks and strokes among a much wider range of people than previously thought to benefit from such treatment. As a consequence, statin therapy is now used extensively worldwide.
He became Principal Investigator of the UK Biobank study in September 2005. Involving 500,000 participants, it is the largest deeply characterised prospective epidemiological study of disease in the world, and is being made available for any type of health-related research by researchers worldwide.
Rory is the Head of the Nuffield Department of Population Health at the University of Oxford. He was knighted for services to Science in 2011 and was elected to the UK Royal Society in 2015. He was awarded the UK Medical Research Council’s 2020 Millennium Medal for his national and international contributions to both cardiovascular disease and UK Biobank.
Joshua C. Denny
Josh Denny is the Chief Executive Officer of the National Institutes of Health’s All of Us Research Program. He has been involved in All of Us from its inception, first as a member of the Advisory Committee to the (NIH) Director Precision Medicine Initiative Working Group, which developed the program’s initial scientific blueprint. He led the program’s initial prototyping project and served as the principal investigator for the All of Us Data and Research Center.
As a physician scientist, Josh is deeply committed to improving patient care through the advancement of precision medicine. Before joining the NIH, Josh was a Professor of Biomedical Informatics and Medicine, Director of the Center for Precision Medicine, and Vice President for Personalized Medicine at Vanderbilt University Medical Center. In his roles at VUMC, he was both a practicing internist and a researcher. His research interests include use of electronic health records (EHRs) and genomics to better understand disease and drug response. He also led efforts implementing precision medicine to improve patient outcomes. Josh was a leader in the development of phenome‐wide association studies (PheWAS) and phenotype risk scores. He served as PI for Vanderbilt sites in the Electronic Medical Records and Genomics (eMERGE) Network, Pharmacogenomics Research Network (PGRN), and the Implementing Genomics into Practice (IGNITE) Network.
He is an elected member of the National Academy of Medicine, the American Society for Clinical Investigation, and the American College of Medical Informatics.
Mary De Silva
Mary De Silva leads the Population Health team which directs Wellcome’s funding of population health research in the UK and in low- and middle-income countries.
Our portfolio spans aetiological research to understand the individual and wider determinants of health, and translational science to develop and test effective and scalable interventions to prevent and treat ill health, ensure health systems are robust, and that evidence is translated into policy and practice.
Current strategic areas of interest include Wellcome’s Longitudinal Population Studies Strategy, catalysing advances in nutrition, health of the public and multi-morbidity research, and strengthening the pathways through which research evidence improves health. I also co-developed and sit on the Programme Board for the Mental Health Priority Area at Wellcome, a new research investment of £200 million.
Before joining Wellcome I was Deputy Director of the Centre for Global Mental Health at the London School of Hygiene and Tropical Medicine. My research included the design and evaluation of complex interventions to improve mental health in low- and middle-income countries, implementation research to ensure that these interventions are scalable and sustainable, and policy influence work to encourage the translation of evidence into policy and practice. I also co-founded and led the Mental Health Innovation Network (http://www.mhinnovation.net/).
David Glazer is an engineering director and CTO of the Terra project at Verily Life Sciences, where he helps life science organizations use cloud computing to accelerate and scale their work with big data. He is a PI for the Data and Research Center, and a member of the Steering Committee, of the NIH All of Us Research Program, and he serves on the NIH Advisory Committee to the Director. He is co-chair of the Cloud Workstream, and a member of the Steering Committee, of the Global Alliance for Genomics and Health (GA4GH). He is a Founding Member of, and on the Organizing Committee for, the International Common Disease Alliance. He previously worked at Google, where he founded the Google Genomics team, and led a variety of platform, product, and infrastructure teams. Prior to joining Google in 2006, he successfully started two companies: Eloquent in 1995 (IPO 2000), which used rich media to power business communications, and Verity in 1988 (IPO 1995), which did full-text search. David grew up in Massachusetts, where he earned a BS in physics from MIT.
Sekar Kathiresan is co-founder and chief executive officer of Verve Therapeutics and serves on the company’s board of directors. He is a preventive cardiologist who has made groundbreaking discoveries of cardioprotective genetic mutations, which confer resistance to cardiovascular disease. Prior to joining Verve, he served as director of the Massachusetts General Hospital (MGH) Center for Genomic Medicine and was the Ofer and Shelly Nemirovsky MGH Research Scholar. He also served as director of the Cardiovascular Disease Initiative at the Broad Institute and was professor of medicine at Harvard Medical School. His research laboratory focused on understanding the inherited basis for blood lipids and myocardial infarction and using these insights to improve preventive cardiac care. Among his scientific contributions, he has helped highlight new biological mechanisms underlying heart attack, discovered mutations that protect against heart attack risk, and developed a genetic test for personalized heart attack prevention. He was honored with a Distinguished Scientist Award from the American Heart Association in 2017 and the 2018 Curt Stern Award from the American Society of Human Genetics. In tandem with his research, his clinical focus was the primary prevention of myocardial infarction in individuals with a family history of heart attack. He graduated summa cum laude with a B.A. in history from the University of Pennsylvania and received his M.D. from Harvard Medical School. He completed his clinical training in internal medicine and cardiology at MGH and his postdoctoral research training in human genetics at the Framingham Heart Study and the Broad Institute.
Stephen F. Kingsmore
Dr. Stephen F. Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine where he leads a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns.
Among his achievements, Dr. Kingsmore holds the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours.
Before being selected to lead RCIGM, he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. Dr. Kingsmore received MB ChB BAO BSc and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center.
Elizabeth McNally MD Ph is a physician and scientist who directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago IL. As the Elizabeth J. Ward Professor of Genetic Medicine, Dr. McNally is a cardiologist with expertise in cardiovascular genetics. She developed one of the first Cardiovascular Genetics clinics in the nation. Dr. McNally’s research focuses on understanding genetic mechanisms underlying heritable cardiac disorders. By developing a deeper understanding as to how these genetic mutations exert their effects, she is using these genetic signals to drive the development of new therapies. Dr. McNally has a special interest in neuromuscular genetic diseases like muscular dystrophy since often these disorders have accompanying cardiovascular complications. Her translational accomplishments have been recognized through an award from the Burroughs Wellcome Foundation and as a recipient a Distinguished Clinical Scientist Award from the Doris Duke Charitable Foundation. She serves on the Board of Directors for the Muscular Dystrophy Association and is the current Chair for the Council on Basic Cardiovascular Sciences of the American Heart Association. She is a past president of American Society for Clinical Investigation and currently President of the Association of American Physicians.
Kathryn A. Phillips
Kathryn A. Phillips, PhD, is Professor of Health Economics and Health Services Research in the Department of Clinical Pharmacy at UCSF. She is the Founding Director of the UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), which focuses on how to effectively, efficiently, and equitably implement precision/personalized medicine into health care. TRANSPERS focuses on providing objective evidence on adoption, payer coverage policies, payer and clinician decision-making, and economic value.
Kathryn’s work spans multiple disciplines and brings together leading experts in academia, industry, healthcare, payers, and government. She has published over 150 peer-reviewed articles in major journals including JAMA, New England Journal of Medicine, Science, and Health Affairs, and she has had continuous funding from NIH as a PI for over 25 years. She was recently awarded a 5-year NIH grant to examine payer coverage and economic value for emerging genomic technologies (cfDNA and tests based on polygenic risk scores).
Kathryn serves on the editorial boards for Health Affairs, Value in Health, JAMA Internal Medicine, Genetics in Medicine (section editor), and leading journals on precision medicine. She has served on national and international scientific advisory committees and workshops including the governing Board of Directors for GenomeCanada, National Academy of Medicine Roundtable on Genomics and Precision Health, Food and Drug Administration, Centers for Disease Control and Prevention, and the President’s Council of Advisors on Science and Technology. She has also served as an advisor to many diagnostics, sequencing, and pharmaceutical companies. Kathryn is the Founder and Chair of the Global Economics and Evaluation of Clinical Sequencing Working Group, and is a member of the CTAF evidence review committee for the Institute for Clinical and Economic Review (ICER). Her work has been quoted by the Washington Post, Wall Street Journal, New York Times, CNBC, Reuters, Newsweek, and other major news outlets.
Fabiola Quintero-Rivera received her M.D. and training in clinical dysmorphology from University of Antioquia in Medellin, Colombia in 2002, completing her last year of medical schooling on scholarship at Harvard Medical School. After completing her degree, she stayed on at the Center for Human Genetic Research at Massachusetts General Hospital (MGH) and at Harvard Medical School as a Co-Investigator in the Developmental Genome Anatomy Project (DGAP). In 2004, she won a competitive MGH clinical research award for her work on the identification of a gene (NFIA) important for the development of the corpus callosum. That same year, she also joined the Clinical Cytogenetics Fellowship program at Harvard. Dr. Quintero-Rivera is certified by the American Board of Medical Genetics and Genomics (ABMGG) and the American Society for Clinical Pathology. In 2007, Dr. Quintero-Rivera joined the University of California, Los Angeles (UCLA). In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA. She was given accelerated promotions to Associate Professor Step 1 and Step 3, in 2012 and 2015, respectively, in the Department of Pathology and Laboratory Medicine at UCLA, as well as maintaining her position as Associate Director of the UCLA Clinical and Molecular Cytogenetics Laboratory and Director of the UCLA Clinical Cytogeneticists Scientist Training Program. In 2019 she was promoted to Clinical Professor.
She also played a key role in the establishment of the UCLA Clinical Microarray core, Exome sequencing, and UCLA Clinical Genomics Center. In addition, Dr. Quintero-Rivera has participated in the development of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (CNVs) detected by microarray. Until 2020 she was part of the Genomic Data board for interpretation and reporting of clinical exome sequencing for diagnosis of Mendelian Disorders. She has received several awards for her research, teaching and service, including the American Association of Medical Colleges (AAMC) Faculty Career Development award at UCLA, and the Outstanding Alumni Award presented during the 230-year Anniversary of her Alma Mater, School of Medicine Universidad de Antioquia, Medellin, Colombia, and most recently the UCLA Intercampus Medical Genetics Training program 2020 “Excellence in Classroom Instruction” Award. Many of the fellows she has taught and mentored have become faculty at UCLA and other academic medical centers nationally and internationally. In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA. Until 2020 she was the Program Director, ABMGG Cytogenetics Fellowship Training at UCLA, the Associate Program Director of the Laboratory Genomics and Genetics (LGG) fellowship, and the Director of the Medical Genetic course for fellows enrolled in the UCLA Intercampus Medical Genetics Program. She is active in the education of fellows, residents, medical students and technologists. In 2020 she joined the Department of Pathology and Laboratory Medicine at School of Medicine, University of California Irvine (UCI), as a Clinical “X” Professor, and as the inaugural and founder Director of UCI’s Clinical Cytogenetics and Genomics Laboratory.
Joyce Tung is Vice President of Research at 23andMe, and manages the 23andMe research team, which is responsible for new research methods and tools development, genetics discovery for therapeutics target identification and validation, academic and industry research collaborations, and the ethical conduct of 23andMe’s consumer-based research program. Before joining 23andMe in 2007. Joyce was a postdoctoral fellow at Stanford University, where she studied the genetics of mouse and human pigmentation. She graduated from Stanford with honors and distinction with a B.S. in Biological Sciences and a minor in Computer Science, and earned her Ph.D. in Genetics from the University of California, San Francisco where she was a National Science Foundation graduate research fellow.
Mark J. Zylka
Dr. Zylka received his B.S. in Biochemistry from Virginia Tech. As an undergraduate, he was named a Barry Goldwater National scholar and he spent three summers at the NIH as an IRTA student. He completed his Ph.D. in Neurobiology from Harvard under the mentorship of Dr. Steven Reppert. While in graduate school, he identified several of the core circadian “clock” genes and determined at a mechanistic level how these genes contribute to circadian rhythms in mammals. He then did his postdoctoral work at Caltech and co-discovered a large family of G protein-coupled receptors called Mas-related genes (Mrgprs) that are exclusively found in sensory neurons of rodents and humans. These receptors are now being studied as therapeutic targets for pain and itch. After joining the faculty at UNC, Dr. Zylka received several prestigious young investigator awards, including a Searle scholar award, a Sloan Foundation fellowship, a Klingenstein fellowship, Whitehall Fellowship, and Rita Allen fellowship. His lab has been continuously funded by the NIH, and received an NIH Pioneer award in 2013. Dr. Zylka was promoted to Director of the UNC Neuroscience Center in 2016, and is responsible for hiring new faculty, shaping the direction of the Center, and for promoting neuroscience research. Dr. Zylka’s lab is broadly focused on developing novel treatments for chronic pain and autism. Specific projects in the lab include use of single-cell sequencing to study the normal and diseased brain, using machine learning approaches to assess pain in animal models, developing a novel CRISPR/Cas9-based treatment for Angelman syndrome, and studying genetic and environmental risks for autism.