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.

Allyson Berent

The Animal Medical Center

Dr. Berent is a veterinary internal medicine specialist/interventionalist who graduated from Cornell University and completed her residency at the University of Pennsylvania, where she served as an Adjunct Assistant Professor before joining the Animal Medical Center in NYC. She is the Director of Interventional Endoscopy, focusing on clinical trials researching medical devices, particularly for ureteral and biliary obstructions. In 2014 Dr. Berent’s daughter, Quincy, was diagnosed with Angelman syndrome.

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.

Lyn Chitty

NIHR GOSH Biomedical Research Centre

Lyn Chitty, Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities. She led the work on the use of circulating cell-free DNA in maternal plasma which has led to implementation in the UK for the non-invasive prenatal diagnosis (NIPD) of monogenic conditions.

Melina Claussnitzer

Broad Institute

Melina Claussnitzer is an institute member at the Broad Institute and an assistant professor at Massachusetts General Hospital and Harvard Medical School (HMS). She also co-directs the Type 2 Diabetes Systems Genomics Initiative at the Broad, and serves as the associate director of scientific strategy for the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease at the Broad. Her lab focuses on the conversion of disease-associated genetic variants to function (V2F) and, more specifically, on the dissection of the genetic basis of type 2 diabetes and its comorbidities into actionable therapeutics. This focus requires a concerted, systematic effort to interpret non-coding genetic variation and to understand how it contributes to phenotypic variation in the context of the complete cellular machinery. Claussnitzer’s research program therefore spans a diversity of areas in the field of disease genomics and involves a hierarchical experimental and computational framework to discover pathophysiological targets underlying the genetic risk of metabolic disease phenotypes.

Joseph G. Gleeson

University of California, San Diego

Dr. Gleeson is the Director of the Laboratory for Pediatric Brain Disease at Rady Genomics Institute and the University of California San Diego, and Chief Medical Officer of the n-Lorem Foundation. The mission of n-Lorem is to apply the efficiency, versatility, and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat patients with nano-rare diseases, for free for life.  Gleeson received a medical degree at the University of Chicago Pritzker School of Medicine.

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