Dr Heidi Rehm – Genomics and Pathology, and the Precision Health Meeting

What we discuss with Dr. Rehm:

How she became interested in biology and genomics, studying the genetic basis of hearing loss, and why she thinks the cochlea is a thing of beauty, how she got involved with the Broad Institute, and her work there, some of the barriers to the use of genetics in medicine, her thoughts on free data exchange among genomics researchers, matchmaker Exchange, and how it is important for genomics research, the role of genomics in pathology, both now and in the future and the Precision Health Meeting, and how she became involved.

Dame Sue Hill

Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.

Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.

Penelope Bonnen

Penelope Bonnen, an Associate Professor of Molecular and Human Genetics at Baylor College of Medicine, Dr. Bonnen is applying her acumen in bioinformatics and human genetics to gene discovery studies for an array of phenotypes and diseases including disorders caused by mitochondrial dysfunction and cancer. The Bonnen lab develops and applies methods for analyzing next-generation sequence data and interpretation of human variation. We collaborate closely with clinicians to translate our findings to clinical and diagnostic settings.

Specialties: human genetics, genomics, functional genomics, bioinformatics, population genetics, mitochondrial disease, metabolic disease, cancer, NGS

Wendy Chung

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine and director of clinical genetics at Columbia University. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. in genetics from The Rockefeller University.

Dr. Chung directs NIH-funded research programs in human genetics of pulmonary hypertension, autism, and birth defects, including congenital diaphragmatic hernia and congenital heart disease. She is a national leader in the ethical, legal, and social implications of genomics. She leads the Precision Medicine Resource in the Irving Institute for Clinical and Translational Research at Columbia University.

Dr. Chung has authored more than 500 peer-reviewed papers and 75 reviews and chapters in medical texts. She was the recipient of the Medical Achievement Award from Bonei Olam, the New York Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, and the Rare Impact Award from the National Organization for Rare Disorders and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost-effective manner.

Anjené Musick

Director at National Institutes of Health All of Us Research Program

Dr. Anjené (Anji) Musick is the Director of the Scientific Data Strategy Branch in the Division of Medical and Scientific Research in the National Institutes of Health All of Us Research Program, charged with maximizing the scientific integrity of research data collected on or donated by All of Us participants to achieve the broadest impact for biomedical discovery. She is also the Program Director for the All of Us Genome Centers, overseeing all genomic data production pipelines and workflows for data release in the All of Us Research Hub.

Geoffery S Ginsburg

Geoffrey Ginsburg, M.D., Ph.D., is the Chief Medical and Scientific Officer of the All of Us Research Program at the National Institutes of Health. He leads the Division of Medical and Scientific Research and is responsible for helping to set the scientific vision and strategy for the program. He also oversees the program’s collection and curation of data, and integration of new data types to support a wide range of impactful scientific discoveries. Prior to joining All of Us, Ginsburg was founding director for the Center for Applied Genomics & Precision Medicine in the Duke University School of Medicine where he pioneered translational genomics and the development of novel diagnostics. At Duke, he was professor of medicine, biostatistics and bioinformatics, pathology, and biomedical engineering. He also was a professor in the School of Nursing; he will remain adjunct professor of medicine. He has held senior leadership roles at Millennium Pharmaceuticals Inc. and was a member of the Harvard Medical School faculty.

Throughout his career, Ginsburg has demonstrated a strong commitment to interdisciplinary science and innovation, with work spanning oncology, infectious diseases, cardiovascular disease, and metabolic disorders. He has held leadership roles in the U.S. and internationally, serving as co-chair of the National Academies’ Roundtable on Genomic and Precision Health, a founding co-chair of the International HundredK+ Cohorts Consortium, and founder and president of the Global Genomic Medicine Collaborative (G2MC), a not-for-profit organization aimed at creating international partnerships to advance the implementation of precision medicine. At NIH, Ginsburg has served on the board of external experts for the National Heart, Lung, Blood Institute, as an advisory council member to the National Human Genome Research Institute and the National Centers for Advancing Translational Sciences, and most recently on the Advisory Committee of the Director of NIH.

He received his M.D. and Ph.D. in biophysics from Boston University and completed an internal medicine residency at Beth Israel Hospital in Boston. Subsequently, he pursued postdoctoral training in clinical cardiovascular medicine at Beth Israel Hospital and in molecular biology at Children’s Hospital as a Bugher Foundation Fellow of the American Heart Association.

Vertex’s David Altshuler Humanizes Drug Discovery

To kick off the Advances in Genome Biology and Technology (AGBT) precision health meeting held in La Jolla, California early this September, David Altshuler, M.D., Ph.D., executive vice president of global research and CSO at Vertex Pharmaceuticals, shared his perspective on “humanizing drug discovery.”