Focus Areas in the Genomic Medicine Cycle
Major leadership positions
Director, Genomic Medicine Unit
Co-Director, Medical and Population Genetics, Broad Institute
Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Laboratories
MGH Unit(s)
Genomic Medicine Unit
MGH Dept/Division/Unit(s)
Pathology and Medicine
Overview
Discovering the basis of rare disease and supporting genomics in medical practice
The Translational Genomics Group (TGG) has a mission to support the discovery of the genetic basis of rare disease and translate our work into medical practice by focusing on community-centered projects that promote collaboration, data sharing and open science. Heidi Rehm leads the TGG, with co-leadership by Anne O’Donnell-Luria for the rare disease group and Mark Daly for the gnomAD project. TGG is composed of a multidisciplinary team of researchers, clinicians, computational biologists, and software engineers. We are located at Massachusetts General Hospital and the Broad Institute of MIT and Harvard.
Priority Projects
- Genomic Medicine Unit (GMU) – facilitates the integration of genomics into the practice of medicine with activities across MGH and other Mass General Brigham-affiliated hospitals.
- Rare Disease Program – supports innovative approaches to discover the causes of rare disease – see cmg.broadinstitute.org and raregenomes.org
- Clinical Genome Resource (ClinGen) – develops knowledgebases through global experts to define the clinical relevance of genes and variants for use in medicine and research – see www.clinicalgenome.org
- Genome Aggregation Database (gnomAD) – the world’s largest open database of human genetic variation – see gnomad.broadinstitute.org
Lab Members
The Center for Genomic Medicine (CGM) comprises one of the largest and most vibrant hubs of genomic medicine research in the world. The CGM includes 46 faculty collaborating to define the ‘genomic medicine cycle’ – which envisages a genomics community seeking to advance research from basic genomics research to ultimately using genome information for diagnostics and targeted therapeutics. All of our investigators are faculty at Harvard Medical School, and many members of our community are also investigators at the Broad Institute of Harvard and MIT.
