Northwestern University

May
9
Thu 2:00 PM

The Etiological Mechanisms of Autism: From DNA to Development - Jonathan Sebat, PhD

When: Thursday, May 9, 2019
2:00 PM - 3:00 PM  

Where: Robert H Lurie Medical Research Center, Gray Seminar Room, 303 E. Superior, Chicago, IL 60611 map it

Audience: Faculty/Staff - Student - Public - Post Docs/Docs - Graduate Students

Contact: Michelle Mohney   312.503.5602

Group: Center for Autism and Neurodevelopment

Category: Lectures & Meetings

Description:

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring:

Jonathan Sebat, PhD
Director, Beyster Center for Genomics of Psychiatric Disease
Professor of Psychiatry, Cellular and Molecular Medicine, and Pediatrics
Institute for Genomic Medicine
University of California, San Diego

Genetic studies of autism spectrum disorder (ASD) have firmly identified gene mutations and common variants that confer significant risk. Much of the focus of my laboratory has been on using whole genome data to expand our knowledge of autism’s genetic architecture. Whole genome sequencing of large cohorts of ASD families has revealed a broad spectrum of structural and nucleotide sequence variation, and novel types of genetic variation represent novel forms of genetic risk. We demonstrate that a proportion of risk for ASD is attributable to inherited structural variants (SVs) that disrupt genes and non-coding variants that disrupt gene regulation. Studies of SVs and gene mutations in humans and model organisms have established links between genes and complex traits. Translational studies using genetic models have potential to facilitate the development of personalized treatment for genetic subtypes of ASD.

Dr. Jonathan Sebat is a leader in the field of psychiatric genetics, and an expert in the genomic characterization of autism by Whole Genome Sequencing (WGS). His research has made substantial contributions to our current knowledge of genome-wide patterns of germline mutation and the contribution of rare and de novo genetic variants to risk for common disease. His early research on patterns of structural genetic variation (SV) in the human genome led the initial discovery of the widespread abundance of SV in the human genome. Application of SV detection methods to neuropsychiatric disorders, including autism spectrum disorders and schizophrenia has served to elucidate the role of rare structural variants in neuropsychiatric disorders. Dr. Sebat is the Director of the Beyster Center for Psychiatric Genomics, where he leads an interdisciplinary team in the clinical and genomic analysis of patient cohorts at UCSD and Rady Children’s Hospital. In addition, he has led multiple large consortium efforts including as chair of the CNV analysis group for the Psychiatric Genomics Consortium and a co-lead investigator on the Human Genome Structural Variation Consortium (HGSVC) where his group has led interdisciplinary teams on the analysis of genomic and clinical datasets on large cohorts.

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