One brain, many genomes: Somatic mutation and genomic variability in human cerebral cortex

  • Autism Research
Speaker Christopher A. Walsh, M.D., Ph.D.
Boston Children's Hospital
Date & Time


Location

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

Autism Research

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

 
On 27 April 2016, Christopher Walsh reviewed recent work on ‘somatic mutations’ — de novo mutations that are present in some brain cells but not in all cells of the body — in several neurological conditions associated with intellectual disability and seizures.

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

About the Lecture

Christopher Walsh and his team are interested in genetic mechanisms of cerebral cortical development and abnormalities of cortical development resulting in intellectual disability, autism and epilepsy. The lab pioneered the analysis of recessive causes of autism by studying children with autism whose parents share ancestry.

In this lecture, Walsh reviewed recent work on ‘somatic mutations’ — de novo mutations that are present in some brain cells but not in all cells of the body — in several neurological conditions associated with intellectual disability and seizures. His talk also covered the extent to which somatic mutations are an inevitable part of normal brain development, such that the neurons in the human brain are a tapestry of cells with distinct genomes. The relevance of somatic mutations to autism was also discussed.

About the Speaker

Headshot of SFARI Investigator Christopher Walsh.

Christopher A. Walsh is Chief of the Division of Genetics and Genomics at Boston Children’s Hospital, Bullard Professor of Pediatrics and Neurology at Harvard Medical School, and an investigator of the Howard Hughes Medical Institute. He completed the M.D. and Ph.D. degrees at the University of Chicago, trained in neurology at Massachusetts General Hospital, and has been at Children’s Hospital since 2006.

Past Lectures

Headshot of Kelsey Martin, executive vice president of autism and neuroscience for the Simons Foundation.Leonard Mlodinow headshot

How emotions shape our memories

Kelsey C. Martin, M.D., Ph.D.Executive Vice President, Autism and Neuroscience
Leonard Mlodinow, Ph.D.Physicist and Author

Have you ever contemplated the difference between a feeling, a thought and a memory? And how do all these things fit together in making us who we are?

Leonard Mlodinow is a theoretical physicist and best-selling author. In his latest book, “Emotional: How Feelings Shape Our Thinking,” he unpacks the role emotions play in our thinking and mental well-being.

Kelsey Martin, director of the Simons Foundation Autism Research Initiative (SFARI) and the foundation’s neuroscience collaborations, has spent much of her career as a neuroscientist seeking to understand better how experiences change brain connectivity to store long-term memories.

Image of panelists

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.

Image of panelists for may 14 2021 event

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.

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