Genomics of human disease. We are interested in the functional consequences of the complete spectrum of genomic variation on human disease, with a particular focus on congenital birth defects, autism, neurodevelopmental disorders, and diverse neuropsychiatric disorders. The lab has a structural variation group, a functional genomics group, and a team dedicated to translating genomics technologies for genetic diagnostic, primarily prenatal and neonatal diagnostic sequencing. 

The Talkowski laboratory explores the impact of genomic alterations on human neurodevelopment and neuropsychiatric disorders, and the application of innovations in sequencing technology to genetic diagnostics. Mike received undergraduate degrees in Biology and Psychology and a Ph.D. in Human Genetics with a focus in genetic epidemiology and psychiatric genetics. He joined the Center for Human Genetic Research (CHGR) of Massachusetts General Hospital, the Department of Neurology in Harvard Medical School, and the Program in Medical and Population Genetics at the Broad Institute as a Postdoctoral Fellow with Dr. James Gusella, Director of the CHGR, in 2008 to study the genetic etiology of neurodevelopmental disorders, particularly autism spectrum disorders. He was appointed to the faculty of the CHGR and Harvard Medical School in 2011. Mike’s laboratory is funded by the National Institutes of Health, the Simons Foundation for Autism Research, the Nancy Lurie Marks Family Foundation, the March of Dimes, the Charles Hood Foundation, the CHARGE Syndrome foundation, and NARSAD.