Chief Laboratory Director, Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine
Medical Director, Broad Institute Clinical Research Sequencing Platform
Associate Professor of Pathology, Brigham & Women’s Hospital and Harvard Medical School

Laboratory for Molecular Medicine
65 Landsdowne St.
Cambridge, MA 02139

Heidi L. Rehm, PhD, FACMG is a board-certified clinical laboratory geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women’s Hospital and Harvard Medical School. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Dr. 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 also aid in rare disease gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as a member of the steering committee of the Global Alliance for Genomics and Health. Dr. Rehm is also a co-investigator of the BabySeq Project exploring the clinical use of genome sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation research, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support.

 

More information about her work can be found at:

Partners Laboratory for Molecular Medicine http://personalizedmedicine.partners.org

Broad CRSP http://genomics.broadinstitute.org/products/clinical-research-sequencing-platform-crsp

ClinGen https://www.clinicalgenome.org

ClinVar https://www.ncbi.nlm.nih.gov/clinvar

Broad Center for Mendelian Genomics https://cmg.broadinstitute.org

Matchmaker Exchange http://www.matchmakerexchange.org

GA4GH http://genomicsandhealth.org

MedSeq and BabySeq http://www.genomes2people.org

eMERGE https://emerge.mc.vanderbilt.edu/