The genetics and genomics of autism spectrum disorders have reached a tipping point. The recent focus on de novo mutations has led to systematic, highly productive gene discovery efforts. These have begun to clarify a tremendously heterogeneous allelic architecture as well as specific genes contributing to social disability syndromes. This lecture will review these recent discoveries and address the challenges facing the path forward from reliable gene discovery to an actionable understanding of the molecular pathophysiology of autism spectrum disorders.
About the Speaker
Matthew State, M.D., Ph.D., received his undergraduate and medical degrees from Stanford University, and completed his residency in psychiatry and fellowship in child psychiatry at the University of California, Los Angeles Neuropsychiatric Institute. He received his Ph.D. in genetics from Yale University and was a faculty member there from 2001-2013. He is currently chairman of the psychiatry department at the University of California, San Francisco.
State’s lab has a longstanding interest in the contribution of rare genetic mutations to childhood neuropsychiatric disorders, including autism and Tourette syndrome. State is currently leading a large, multi-site, genome-wide study of autism spectrum disorder funded by the Simons Foundation, and is playing a leadership role in the Tourette International Collaborative for Genetics and the Autism Sequencing Consortium. Among many professional honors, this past year he was awarded the Ruane Prize for Outstanding Research in Child and Adolescent Psychiatry by the Brain and Behavior Research Foundation.