Director, Center for Genomic Medicine
Massachusetts General Hospital
Massachusetts General Hospital, Massachusetts, United States
Michael E. Talkowski, PhD
Dr. Talkowski is the Director of the Center for Genomic Medicine at MGH and an Institute Member at the Broad Institute in Boston, MA. He received a Ph.D. in human genetics and performed his postdoctoral training in neurodevelopmental genomics. The Talkowski laboratory is interested in understanding the consequences of genomic variation on human disease. We study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism and human developmental disorders. Dr. Talkowski co-directs several international consortia related to autism, fetal genomics, and large-scale reference resources such as the genome aggregation database (gnomAD) and the All of Us Research Program. His group is also a hub for functional genomics studies in neurodevelopmental disorders and uses a combination of CRISPR editing, neuronal modeling, and transcriptomics. Collectively, our efforts revolve around a cycle that traverses from the discovery of genomic variation across global populations to disease association, mechanistic modeling, and translation to diagnostic interpretation in the emerging era of genomic medicine.
The future: Exome Sequencing as Routine Testing and Noninvasive Exome Sequencing
Wednesday, January 29, 2025
9:00 AM - 9:30 AM
