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Jonathan Sebat

Title(s)Adjunct Professor, Pediatrics
SchoolHealth Sciences
Phone858-534-6526
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    Research Interests

    Large-scale differences in gene copy number, known as copy number variants (CNVs), are a significant source of genetic variation and an important contributor to disease risk in humans. Our laboratory is interested in how CNVs and other variation within in the human genome contribute to mental illness. Our goal is to identify genes related to psychiatric disorders and to determine how genetic variants impact the function of genes and corresponding cellular pathways.

    Our experimental approach is to use high-resolution microarray platforms to screen the genomes of patients for CNVs and to test the association of these genetic variants with disease in families and in cohorts of patients and healthy controls. Findings from several studies support a role for CNVs in autism, schizophrenia and bipolar disorder. In addition, multiple genomic regions have been identified that harbor rare mutations that substantially increase disease risk.
    We are interested in further understanding the functional and phenotypic consequences of these mutations in humans. CNVs that result in the disruption of a single gene may produce an altered transcript. Larger rearrangements that alter the dosage of multiple genes may result in altered levels of gene expression. We study these processes experimentally in human cells. By understanding the biological processes related to psychiatric disorders and by characterizing how these processes are disrupted in humans, we hope to enhance the diagnosis and treatment of patients.

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    Collapse Research Activities and Funding
    Expanding the accessible genetic architecture of autism by single molecule sequencing
    NIH/NIMH R01MH113715Oct 1, 2019 - May 31, 2022
    Role: Principal Investigator
    4/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders
    NIH/NIMH U01MH119746Jun 20, 2019 - Mar 31, 2024
    Role: Principal Investigator
    4/7 Psychiatric Genomics Consortium: Finding actionable variation
    NIH/NIMH U01MH109501Aug 1, 2017 - Mar 31, 2021
    Role: Principal Investigator
    Personalized treatment of cognitive deficits associated with deletion of CACNG2
    NIH/NIMH R21MH113179Aug 1, 2017 - Jul 31, 2019
    Role: Principal Investigator
    The Role of Germline Mutation and Parental Age in Autism Spectrum Disorders
    NIH/NIMH R01MH076431Sep 1, 2014 - Jul 31, 2011
    Role: Principal Investigator
    3/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing &Genotypi
    NIH/NIMH U01MH094411May 10, 2012 - Mar 31, 2016
    Role: Principal Investigator
    High-Resolution ROMA Analysis of Genome Copy Number Variation in the HapMap
    NIH/NHGRI P41HG004222Jul 14, 2010 - Mar 31, 2011
    Role: Principal Investigator

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