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.

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.

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.

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.”