Genome Pioneer to Describe Efforts to Curate Genome

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Heidi Rehm, PhD

Citation: Kidney News 12, 10/11

“Global Efforts to Curate the Genome” is the title of a state-of-the-art lecture scheduled for Sat., Oct. 24. The speaker will be Heidi Rehm, PhD, a human geneticist and genomic medicine researcher. She is medical director of the Clinical Research Sequencing Platform and an institute member at the Broad Institute in Cambridge, Mass.

She is also chief genomics officer in the department of medicine at Massachusetts General Hospital and a professor of pathology at Mass General, Brigham and Women’s Hospital, and Harvard Medical School. A leader in defining standards for the interpretation of sequence variants, Rehm is a principal investigator for a major National Institutes of Health-funded effort called ClinGen (Clinical Genome Resource), which provides free, publicly accessible resources to support the interpretation of genes and variants.

Dr. Rehm also co-leads the Broad Center for Mendelian Genomics, which is focused on discovering novel rare disease genes, and co-leads the Matchmaker Exchange, which is aimed at gene discovery. A pioneer in open science and data sharing, she is 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 the Informatics for Integrating Biology and the Bedside Center into a health innovation platform for clinical decision support.

In 2001, Dr. Rehm began building the Laboratory for Molecular Medicine within the Harvard-Partners Center for Genetics and Genomics. Now a part of Partners HealthCare Personalized Medicine, the laboratory focuses on the rapid translation of new genetic discoveries into clinical tests and brings novel technologies and software systems into clinical use to support the integration of genetics into medicine. The laboratory, which Rehm directed until 2018, has been a leader in translational medicine and offers exome and genome sequencing services for both clinical diagnostics and genomic medicine research projects.

Dr. Rehm is involved in defining standards for the use of next-generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. She serves as a council member of the Human Genome Organization, Human Genome Variation Society, and Human Variome Project. Among her honors, she has received the Brigham and Women’s Hospital Physician Recognition Award for Clinical Innovation and the Boston Business Journal’s 40 Under 40 Award for Civic Leadership. She was a member of teams that won the 2012 CLARITY Challenge run by Boston Children’s Hospital and the 2013 Bio-IT World editors’ prize for the GeneInsight software system.

Dr. Rehm earned her MS in biomedical science from Harvard Medical School and her PhD in genetics from Harvard University. She completed her postdoctoral training in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.