STAGE ISSS: Heidi Rehm

Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with

Heidi Rehm

Professor of Pathology and Chief Genomics Officer
Massachusetts General Hospital 
Co-Director, Program in Medical and Population Genetics
Broad Institute of MIT and Harvard
Chief Medical Officer and Clinical Lab Director
Broad Clinical Laboratories

Free Hybrid (In-person/Online) Event | Registration Required

Talk Title

Global Strategies to Decipher Rare Disease

Abstract

Despite major technological advances in genomic sequencing and data analysis, the majority of individuals with a suspected genetic disorder do not receive a molecular diagnosis. So where is the gap and how do we address it? This talk will present strategies to identify novel causes of rare disease including the application of new technologies and analysis methods as well as building innovative approaches to global data sharing.

Speaker Profile

Heidi Rehm is Director of the Genomic Medicine Unit in the Center for Genomic Medicine and Chief Genomics Officer at Massachusetts General Hospital, working to integrate genomics into medical practice. She is an ABMGG-certified Clinical Laboratory Director of Broad Clinical Labs working to guide clinical genomic testing in medical practice. 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. 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 Genome Aggregation Database (gnomAD) and the Broad All of Us Genome Center, generating genomic resources to fuel discovery. She serves as an advisor to the Clinical Pharmacogenetics Implementation Consortium, Danish National Genome Center, Monarch Initiative, CIViC database and Ensembl. 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.

Sponsors

CANSSI Ontario STAGE (STAGE) is a training program in genetic epidemiology and statistical genetics, housed at the University of Toronto Dalla Lana School of Public Health, and funded by CANSSI Ontario at U of T, an extra-departmental unit in the Faculty of Arts & Science that is home to the Ontario Regional Centre of the Canadian Statistical Sciences Institute (CANSSI).

Seminars are sponsored by The Hospital for Sick Children (Genetics & Genome Biology Program), the Lunenfeld-Tanenbaum Research Institute, and the McLaughlin Centre at the University of Toronto.

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