Michael Talkowski, Ph.D.
The Talkowski Laboratory studies the genetic etiology of complex neurodevelopmental and neuropsychiatric disorders. We incorporate the development of molecular, bioinformatic, and statistical methods to delineate strong effect mutations in the human genome and to characterize their consequences at the level of individual genes, pathways, and phenotypic outcomes. We are also interested in technical innovations that will benefit both prenatal and postnatal genetic diagnostics. Our recent studies have identified novel genes associated with autism spectrum disorders as well as other neurodevelopmental loci, individual gene contributions to previously known microdeletion and duplication syndromes, the complex landscape of chromosomal rearrangements and the phenomenon of germline chromothripsis, and a the first prenatal diagnostic application of whole-genome sequencing by large-insert libraries. The group is funded by resources from the National Institutes of Health, the Simons Foundation for Autism Research, the Nancy Lurie Marks Family Foundation, the Charles Hood Foundation, the March of Dimes, and NARSAD.