From genotype to phenotype in autism: The role of adaptive physiology in flies and mice

  • Autism Research
Speaker Graeme Davis, Ph.D.
University of California, San Francisco
Date & Time


Gerald D. Fischbach Auditorium
160 5th Avenue
New York, NY 10010 United States

Tea 4:15 – 5:00 pm
Lecture 5:00 pm – 6:15 pm

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.

Video replay of this event will be available shortly. Please check back at a later date.

On November 20, 2019, Graeme Davis presented his research investigating the mechanisms that lie at the interface between neuronal homeostatic plasticity and ASD genetics.

His talk was part of the Simons Foundation Autism Research lecture series.

About the Lecture

The identification of rare de novo mutations that confer high risk for autism spectrum disorders (ASD) has generated tremendous new molecular insight and progress. Yet, in cases where a known mutation confers risk, additional processes contribute to the phenotypic severity of ASD. Homeostatic plasticity has garnered considerable attention as an adaptive process of neurons that might be relevant and contribute to the spectrum of ASD severity in the human population. But virtually nothing is known at a mechanistic level regarding the interface of homeostatic plasticity and ASD genetics. Furthermore, there remains ongoing debate whether homeostatic plasticity is normally induced or whether it is impaired by gene mutations that confer risk for ASD.

In this lecture, Graeme Davis described a novel, unexpected genetic architecture that connects mutations in ASD-associated genes with the mechanisms of homeostatic plasticity in both invertebrate and mammalian nervous systems. He presented a novel means by which a diversity of ASD-associated risk genes may converge to disrupt homeostatic plasticity, thereby compromising the robustness of synaptic transmission. This information may be relevant to developing new therapeutic approaches that might someday alleviate ASD symptoms, regardless of the underlying genetic mutation(s) that confer risk for ASD.

About the Speaker

Graeme Davis received his B.A. at Williams College in 1989 and a Ph.D. from the University of Massachusetts in 1994. He pursued a postdoctoral fellowship at the University of California, Berkeley, under the guidance of Corey S. Goodman. In 1998, he began his independent academic career as an assistant professor at the University of California, San Francisco (UCSF) School of Medicine. Davis has remained at UCSF his entire career and is currently the Morris Hertzstein Distinguished Professor of Medicine and the former chairman of the department of biochemistry and biophysics.

He and his laboratory have pioneered the field of homeostatic plasticity, beginning with work published in the mid-1990s and continuing to this day. They have taken advantage of genome-scale forward genetics screens in model organisms to define a majority of genes currently known to control the homeostatic regulation of neurotransmitter release and ion channel gene expression. Recently, the Davis lab has turned its attention to the interface of homeostatic plasticity and the mechanisms of neurological and psychiatric disease.

Past Lectures

What do we mean by ‘autism risk genes’?

David Ledbetter, Ph.D.
Chief Clinical Officer, Dascena

Joseph Buxbaum, Ph.D.
Director, Seaver Autism Center
Professor, Psychiatry, Neuroscience, Genetics and Genomic Sciences
Vice Chair for Research and Vice Chair for Mentoring, Psychiatry, Icahn School of Medicine at Mount Sinai

Heather Mefford, M.D., Ph.D.
Full Member, St. Jude Children’s Research Hospital

David Ledbetter and Joseph Buxbaum discussed whether there are genes for which mutations confer risk specific to autism or whether these genes are really conferring general risk of disrupted brain development. The discussion was moderated by Heather Mefford.

Small molecules, genes and antisense oligonucleotides: Industry perspectives on treatment development for ASD

Federico Bolognani, M.D., Ph.D.
Vice President, Head of Clinical Science, Axial Therapeutics

Stuart Cobb, Ph.D.
Chief Scientific Officer, Neurogene; Research Fellow, University of Edinburgh

Yael Weiss, M.D., Ph.D.
Vice President, Business Development, Ultragenyx

Randy Carpenter, M.D.
Chief Medical Officer, Rett Syndrome Research Trust; Co-Founder, Allos Pharma

Federico Bolognani, Stuart Cobb, and Yael Weiss joined a panel to discuss new industry developments on the use of small molecules, gene therapy and antisense oligonucleotides as treatment approaches for autism spectrum disorders (ASD). The panel discussion was moderated by Randall Carpenter.

New research results from the Australian Autism Biobank study

Jake Gratten, Ph.D.Group Leader, Mater Research Institute, The University of Queensland
Adjunct Senior Research Fellow, Institute for Molecular Bioscience
Naomi Wray, Ph.D.National Health and Medical Research Council Leadership Fellow – Group Leader, Institute for Molecular Bioscience
Affiliate Professor, Queensland Brain Institute, The University of Queensland

Jake Gratten and Naomi Wray presented findings from the Australian Autism Biobank study, an initiative to establish an Australian resource of biospecimens, phenotypes and genomic data for autism research.

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