Investigator Center for Genomic Medicine, Mass General Research Institute

Chief Genomics Officer Department of Medicine, Massachusetts General Hospital

Professor of Pathology Harvard Medical School

Medical Director, Clinical Research Sequencing Platform Broad Institute

PhD Harvard University Graduate School of Education 2000

PhD Harvard University 2000

data sharing; dna variation; gene discovery; genetic testing; genomic medicine; hearing loss; high-throughput nucleotide sequencing; molecular diagnostic techniques; rare disease; variant reclassification

Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital working to integrate genomics into medical practice. She is a board-certified laboratory geneticist, Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at Harvard Medical School, working to guide genomic testing for clinical and clinical research use. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also 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 as vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database.

More information about her work can be found at:

Laboratory Website: RehmLab.organdthe-tgg.org

ClinGen https://www.clinicalgenome.org

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

Rare Genomes Project https://raregenomes.org

Matchmaker Exchange http://www.matchmakerexchange.org

gnomAD http://gnomad.broadinstitute.org/

Gene Curation Coalition https://thegencc.org/

All of Us Research Program https://www.joinallofus.org

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

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

GA4GH https://www.ga4gh.org/

Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.