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Heidi+Rehm

Heidi Rehm, Ph.D.

Heidi+Rehm

Heidi Rehm, Ph.D.

Organization

Massachusetts General Hospital

Program

MGH Research Institute Endowed Chairs

Year

2025

For nearly 30 years, the funding provided by the Rappaport Foundation to physicians and researchers has allowed brilliance to flourish and breakthroughs to triumph in the areas of neurologic diseases and mental illness.

Heidi Rehm is a board-certified laboratory geneticist 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 Chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad All of Us Genome Center supporting the sequencing of a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database. She serves as an advisor to the Clinical Pharmacogenetics Implementation Consortium, Danish National Genome Center, Monarch Initiative, Ensembl and CIViC database. She serves journal editor or advisor roles with Genetics in Medicine, Cell Genomics, and Genome Medicine. She received the Scientific Achievement Award from the American Society of Human Genetics in 2022 and the Coulter Award from the Association for Diagnostics and Laboratory Medicine in 2025 and has published over 300 peer-reviewed papers.