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Features / Webinars

Jonathan Sebat on autism and schizophrenia genetics

27 May 2015
The Presenter
Presenter

Jonathan Sebat

Chief, Beyster Center for Genomics of Neuropsychiatric Diseases, and Associate Professor, University of California, San Diego

Jonathan Sebat investigates the molecular basis of neuropsychiatric disorders such as autism and schizophrenia.

On 27 May, Jonathan Sebat discussed similarities and differences between autism and schizophrenia at the genetic level. He is associate professor of psychiatry and cellular and molecular medicine at the University of California, San Diego.

Small duplications in a chromosomal region known as 16p11.2 increase the risk of schizophrenia, whereas deletions in this same region are linked to autism. Findings from the last five years suggest that some of the very genetic variations that lead to autism may confer risk for — or in some cases protection from — schizophrenia.

Taken together, these results raise the question of whether autism and schizophrenia are two sides of the same genomic coin. During this webinar, Sebat examined both disorders and dissected their genetic similarities and differences.

You can watch a complete replay of the webinar above.

Use the comments section below to submit questions we didn’t have time to discuss during the Q&A session or to pose follow-up questions for Sebat.

Check out the SFARI Webinar Series for a listing of future sessions.

 

Press Policy
The Spectrum Webinar Series aims to facilitate the free exchange of ideas among autism researchers, including discussion of published and unpublished research, hypotheses and results. Members of the press may report information presented during a Spectrum webinar only if that material has already been published elsewhere or they have first obtained express written consent from the presenter.

About Webinars
Presentations by leading experts that showcase new findings, useful techniques and emerging topics in autism research. We invite questions before and during the presentations in the Comments section.
  • RA Jensen

    The exclusionary criteria in the major genetic consortium projects are irrelevant and misleading for my family. My daughter would have been excluded from participating in the Simons Simplex Collection (SCC) or the Autism Simplex Collection (TASC). The exclusionary criteria for TASC is:

    ‘Individuals with known medical or genetic causes of autism or a history consistent with Childhood Disintegrative Disorder were excluded. Other exclusion criteria included: extreme prematurity (< 1,000 grams or less than 32 weeks); prematurity with associated neurological complications; birth trauma with associated early neo-natal complications; significant brain injury; in utero exposure to medication known to be associated with autism, for example. retinoic acid, sodium valproate'. Simon Simplex Collection has similar exclusionary criteria. The data published by Simons Simplex Collection only applies to the subgroup included and can never be extrapolated beyond that group, but too often is, to the larger community of families.

  • Planet Autism

    I have Asperger’s syndrome. I have a sister with schizophrenia.

  • Lucia Peixoto

    If gene dosage is so important, what about non-coding variants that will affect gene expression of certain genes? What do we know about that type of genetic variant?

    Lucia Peixoto, PhD
    Assistant Professor
    Washington State University, Spokane

  • Chuck Hensel

    Have genes within the CNVs been surveyed for secondary mutations by sequencing, and if so could mutations in different genes be responsible for ASD and/or schizophrenia?

    Also, was there a brain phenotype associated with the KCTD13 knockin or knockout in fish?

  • Carrie Bearden

    Hi Jonathan, great talk! What are your thoughts on the relative impact of SNVs in autism vs schizophrenia? My impression is that while the CNVs seem to have relatively large effect on risk for both, it’s likely that gene-disrupting single mutations are much more evident in ASD. Is this your view or has it just not been adequately studied yet in schizophrenia because of the common variant focus? thanks!

    Carrie Bearden, Ph.D.
    Associate Professor
    UCLA

  • Sahil Tembulkar

    Great job! Specifically in your lab, what are the next steps for research?

    Sahil Tembulkar
    Research Assistant
    Boston Children’s Hospital
    Harvard University

  • Regarding Carrie Bearden’s question, yes there is some recent evidence that de novo SNVs overlap between autism, schizophrenia and other disorders. For example this paper is highlighted in my webinar.
    http://www.ncbi.nlm.nih.gov/pubmed/25849321
    The genetic overlap between and ASD and SCZ is evident for a variety of genetic risk factors. There is not enough exome data to really quantify relative amount of SNV overlap in ASD/SCZ (in comparison to CNVs). Exome sequencing has not been done on a large enough scale.

    Regarding Chuck Hensel’s questions
    1. It’s certainly possible that other common or rare variants at the 16p11.2 locus could influence come. However, exome sequencing of the region in patients that carry the CNV hasn’t turned up anything obvious.
    2. Yes Nico Katsanis has shown that brain growth in zebrafish is accelerated when KCTD13 is knocked down and reduced when KCTD13 is overexpressed. This similar to what we observed in humans (McCarthy et al Nat Gen 2009) and Alea Mills observed in mouse (Horev et al PNAS 2011). This suggests that KCTD13 is one of (probably multiple) genes in the 16p11.2 region that regulates neurodevelopment.

    Regarding Sahil’s question: I want to understand how the dosage of specific genes influences risk for a variety of psychiatric traits i.e. what is the “risk profile” for a given CNV? We can answer this question by investigating autism loci in other disorders including ADHD, OCD/Tourette, Anorexia Nervosa, Bipolar disorder etc…

    Jonathan Sebat

  • Irina

    I don’t see my comment. Do you have the webinar translated into Russian or Romanian?

    • gregboustead

      Hi, Irina- Sorry, the webinar is only available in English.

      • gregboustead

        Irina,

        By the way, although we don’t have a Romanian version of this webinar, I’d like to point out that there’s a Romanian autism news website that regularly translates and reposts our content, in case you were’t aware of it: http://www.2elefanti.ro

        You can find the Romanian-translated versions of our articles by searching “SFARI”: http://www.2elefanti.ro/?s=sfari&submit=Search&lang=ro

        I hope that helps.

        Greg Boustead
        SFARI.org, community manager

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