Heidi L. Rehm, PhD, FACMG
Director, Genomic Medicine Unit, Center for Genomic Medicine, and Chief Genomics Officer, Department of Medicine,
Massachusetts General Hospital
Co-Director, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
Medical and Clinical Lab Director, Broad Clinical Laboratory
Professor of Pathology, Harvard Medical School
Our understanding of the genetic basis of disease has been rapidly advancing thanks to major technological advances in genomic sequencing and data analysis. Yet the majority of individuals with a suspected genetic disorder do not receive a molecular diagnosis. So where is the gap and how will we fill it? This talk will touch on major global efforts to collaborate in rare disease gene discovery, genomic and health data sharing, and expert curation of genomic knowledge. It will also touch on the translation and implementation of this work into routine medical practice and chart a path for the future.
Thursday, February 16, 2023 - 4:00 to 5:00pm EST
Zoom and In-person (622 West 168th St. PH-10-405A/B)
Register to receive Zoom link
Presented by the Precision Medicine Resource of the Irving Institute for Clinical and Translational Research.
This event is supported in part by a gift from Pfizer to Columbia.