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

Josh Peterson

Josh Peterson, MD, MPH serves as a Professor of Biomedical Informatics and Medicine in the School of Medicine at Vanderbilt University Medical Center, the Director of the Center for Precision Medicine, and the Vice-President for Personalized Medicine.

Dr. Peterson is an internationally recognized researcher and educator in Biomedical Informatics and maintains an Internal Medicine practice at VUMC.  He has authored more than 120 peer-reviewed publications, abstracts, reviews, and book chapters.  Dr. Peterson’s research interests are in precision medicine with a focus on clinical decision support to improve drug safety and efficacy, and the translation of genomic technologies to routine clinical care.

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Jennifer Posey

As a physician-scientist and a medical and human geneticist, my ultimate goal is to be able to translate our understanding of the relationship between an individual’s genotype and phenotype into actionable and treatable information in the clinic. The first step toward this goal is the elucidation of the complex relationships between genotypes and human disease phenotypes.

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.

Aaron Quinlan

Aaron Quinlan is an Endowed Professor of Human Genetics and Biomedical Informatics at the University of Utah. His laboratory has developed numerous foundational, open-source software tools that facilitate discovery in genomics for thousands of researchers worldwide. His research program explores the causes and consequences of germline and somatic mutations on development, fertility, and health. By applying computational advances to massive genomic datasets, his laboratory has charted maps of genetic constraint in genes, observed surprising variability in the rate at which germline mutations arise and accumulate in sperm, and has unveiled potential connections between germline mutations and health. More information can be found at www.quinlanlab.org.

Catherine Cottrell

Catherine Cottrell, PhD, FACMG serves as a Senior Director of the Institute for Genomic Medicine Clinical Laboratory at Nationwide Children’s Hospital.  She is an Associate Professor – Clinical in the Departments of Pathology and Pediatrics at The Ohio State University.  Dr. Cottrell is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Cytogenetics and Molecular Genetics, having completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio in 2010. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, she ultimately served as the Director of the Cytogenetics and Molecular Pathology Laboratory, and as an Associate Professor in the Department of Pathology and Immunology, and Department of Genetics. Dr. Cottrell specializes in the clinical interpretation of complex genomic laboratory assays.  She has an interest in the development of new clinical diagnostic tests, and a focus on somatic variant interpretation in the setting of cancer and somatic mosaic disease. Her current clinical and research emphasis includes constitutional exome and genome sequencing, comprehensive somatic disease profiling, and the development of best practices in genetic variant interpretation.  Additionally, she lends genomic expertise to the Vascular Anomalies Center at NCH.  Dr. Cottrell joined as a faculty member within The Institute for Genomic Medicine at NCH in 2016.

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.”

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.

Alexandre Reymond

Université de Lausanne and Past President ESHG

Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group.

Luke Rosen

KIF1A.ORG

Luke Rosen and his wife, Sally Jackson, founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. In 2017 Luke left his career in film and television to accelerate discovery of treatment for Susannah and children like her. In November 2022, Susannah was the first child to receive an experimental ASO treatment developed by the N-lorem foundation.