Michael Talkowski received his Ph.D. in human genetics and trained in neurodevelopmental genomics as a postdoctoral fellow at Harvard Medical School, Massachusetts General Hospital and the Broad Institute of MIT and Harvard. His research program focuses on understanding the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism and human developmental disorders. His group integrates molecular and computational approaches to explore the consequences of genomic variation with a particular interest in the relationship between genome structure and function and how this contributes to human disease, particularly neurodevelopmental disorders.

Talkowski is currently the director of the Center for Genomic Medicine at Massachusetts General Hospital and a professor in the Department of Neurology at Harvard Medical School. He is also an institute member at the Broad Institute, where he co-leads the Broad Structural Variation Group and the NeuroDevelopmental Variability Initiative. He also co-directs several international consortia related to autism, fetal genomics and large-scale reference resources, including the genome aggregation database (gnomAD) and the All of Us Research Program.

Collectively, the Talkowski lab’s research efforts revolve around a cycle that spans from the discovery of genomic variation across global populations to disease association, mechanistic modeling and translation into diagnostic interpretation in the emerging era of genomic medicine.