Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine, the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology. She is a board-certified laboratory geneticist and principal investigator of ClinGen, defining standards and creating resources to support genomic medicine. Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur, focused on discovering novel rare disease genes.

Questions being addressed in the lab

  1. Developing resources to support genomic medicine
  2. Discovering the genetic causes of rare disease

Highlighted Publications from the lab


A new era in the interpretation of human genomic variation
December, 2020