Jonathan Sebat, Ph.D.

Professor, University of California, San Diego

SFARI Investigator, SFARI Scientific Review Board Website

Jonathan Sebat is the director of the Beyster Institute for Psychiatric Genomics, where he leads an interdisciplinary team in the clinical and genomic analysis of patient cohorts at the University of California, San Diego and Rady Children’s Hospital San Diego.

The Sebat laboratory is interested in how rare and de novo mutations in the human genome contribute to risk for psychiatric disorders such as autism spectrum disorders (ASDs) and schizophrenia. To this end, they are developing novel approaches to gene discovery that are based on advanced technologies for the detection of rare variants, including studies of copy number variation (CNV) and deep whole genome sequencing. The overall goal is to identify genes associated with psychiatric disorders and to determine how genetic variants impact the function of genes and corresponding cellular pathways. They are also interested in developing targeted therapies for psychiatric disorders, including the identification of lead molecules that may help to normalize the expression of genes affected by disease-associated variants.

Sebat’s research has made substantial contributions to our current knowledge of the contribution of rare and de novo genetic variants to risk for ASDs and other psychiatric conditions. He is a co-chair of the Genetics workgroup of the NIMH Mental Health Rare Genetic Disease Network and chair of the CNV workgroup of the Psychiatric Genomics Consortium.

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Funded Projects

SFARI Funded Publications

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p. Weiner D.J., Ling E., Erdin S., Tai D.J.C., Yadav R., Grove J., Fu J.M., Nadig A., Carey C.E., Baya N., Bybjerg-Grauholm J., iPSCYH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta S., Macosko E.Z., Sebat J., O’Connor L.J., Hougaard D.M., Børglum A.D., Talkowski M., McCarroll S., Robinson E.
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