Gordon & Virginia MacDonald Distinguished Professor\,
Departments of Neurology\, Psychiatry & Behavioral Sciences and Hu man Genetics\,
Co-Director\, Center for Neurobehavioral Genetics
< p>Director\, UCLA Center for Autism Research and TreatmentSenior Ass ociate Dean & Associate Vice Chancellor\, Precision Health
Director\, Institute for Precision Health
UCLA School of Medicine
Talk Title: Translating the autism genome through genomics and hi gh-throughput iPSC phenotyping: towards precision therapeutics
Abstract: Three decades of genetic studies in autism spectrum disorder (ASD) have id entified over two hundred genes harboring rare risk mutations. These rare f orms of ASD account for about 15% of cases\, but combined with polygenic ri sk frame ASD\, frame ASD as a highly heterogeneous condition with diverse g enetic sources of susceptibility. Despite this substantial diversity\, tran scriptomic and epigenetic analyses have also identified convergent patterns of dysregulation across ASD post-mortem brain. Moreover\, studies to ident ify the biological pathways\, timing and location of susceptibility gene ex pression\, suggest that their expression converges in developing neural pro genitors and neurons during the period of cortical neurogenesis. Our work s eeks to understand how developmental perturbations percolate through time t o impact brain function after birth using stem cell models and high through put biological assays.
Host: Dr. Joe Dougherty
Host Comments: F or three decades\, Dr. Dan Geschwind has been at the forefront of the integ ration of genomics and neuroscience. He has led large initiatives for gene discovery in neurodevelopmental disorders and neurodegeneration\, as well a s pioneering functional genomics approaches to understand the human brain t hroughout its developmental trajectory\, in health and disease. He is curr ently lead on numerous major projects characterizing the consequences of au tism gene mutation (SSPsygene)\, understanding the genetic architecture of autism across diverse populations (ACE Network)\, and gene regulation (Psyc hEncode).