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


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

  1. 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.
  2. Rare Disease Program – supports innovative approaches to discover the causes of rare disease – see and
  3. 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
  4. Genome Aggregation Database (gnomAD) – the world’s largest open database of human genetic variation – see

Lab Members