Advancing Medicine Through Global Collaboration

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  • Опубліковано 28 вер 2024
  • Presented By: Heidi L. Rehm, PhD, FACMG
    Speaker Biography: Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital working to integrate genomics into medical practice. She is a board-certified laboratory geneticist and Medical Director of the Broad Institute Clinical Research Sequencing Platform working to guide genomic testing for clinical and clinical research use. She is also Co-Director of the Program in Medical and Population Genetics at the Broad Institute and Professor of Pathology at Harvard Medical School. 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 vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database.
    Webinar: Advancing Medicine Through Global Collaboration
    Webinar Abstract: Despite major advances in deciphering the genome, barriers to incorporating genomics into clinical care abound. Overcoming these barriers requires extensive infrastructure, including standards, knowledgebases and global data sharing, as well as innovative solutions and a rich interface between research and clinical care. This talk will present both local and global efforts to support clinical genomics from diagnosis to gene discovery.
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