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
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.
Session Sponsor:
ISSS events are made possible through the generous support of our partner organizations. For a complete list of sponsors, please see here.
CANSSI STAGE is supported by partner institutions across the country, including financial and in-kind support from CANSSI Ontario—an extra-departmental unit within the University of Toronto Faculty of Arts & Science. CANSSI Ontario is the Ontario Regional Centre of the Canadian Statistical Sciences Institute (CANSSI).
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