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Heidi L. Rehm

Heidi L. Rehm BA, MMSc, PhD, FACMG

Chief, Director, Associate Professor | Cambridge, Massachusetts    United States of America
Biochemistry And Molecular Genetics, Clinical Genetics
Biochemistry And Molecular Genetics, Clinical Genetics,...More
Spoken at 8 events

Biography :

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, 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.

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 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 i2b2 into a Health Innovation Platform for clinical decision support.

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Biochemistry and Molecular Genetics, Clinical Genetics

Interested Topics

Biochemistry and Molecular Genetics, Clinical Genetics, Pathology, Molecular Medicine, Personalized Medicine, Molecular Diagnostics, Genome Sequencing, Genomic Medicine, Usher Syndrome, Hearing Loss, Cardiomyopathy, Healthcare IT

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