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Heidi Rehm

Heidi Rehm, Ph.D.

Heidi Rehm, a human geneticist and genomic medicine researcher, is medical director of the Clinical Research Sequencing Platform and an institute member at the Broad Institute. She is chief genomics officer in the Department of Medicine at Massachusetts General Hospital. She is also an associate professor of pathology at Brigham and Women's Hospital (BWH) and Harvard Medical School. She is a board-certified geneticist and leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), providing free and publicly accessible resources to support the interpretation of genes and variants.

Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role on the steering committee of the Global Alliance for Genomics and Health. Rehm is also a co-investigator of the BabySeq Project exploring the clinical use of genomic sequencing as an adjunct to newborn screening; principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation; and a principal investigator on a project to develop the Informatics for Integrating Biology and the Bedside (i2b2) center into a health innovation platform for clinical decision support.

In 2001, Rehm began building the Laboratory for Molecular Medicine (LMM) within the Harvard-Partners Center for Genetics and Genomics. Now a part of Partners HealthCare Personalized Medicine, the LMM focuses on the rapid translation of new genetic discoveries into clinical tests and brings novel technologies and software systems into clinical use to support the integration of genetics into medicine. The laboratory, which Rehm directed until 2018, has been a leader in translational medicine, and offers exome and genome sequencing services for both clinical diagnostics and to support genomic medicine research projects.

Rehm is involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. She serves as a council member of the Human Genome Organization, Human Genome Variation Society, and Human Variome Project. Among Rehm's honors are the BWH Physician Recognition Award for Clinical Innovation and the Boston Business Journal's 40 Under 40 Award for Civic Leadership. She was also a member of teams that won the 2012 CLARITY Challenge run by Boston Children’s Hospital and the 2013 Bio-IT World Editors’ Prize for the GeneInsight software system.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

June 2018