New approaches to treating Rett syndrome

  • Autism Research
Speaker Gail Mandel, Ph.D.
Oregon Health & Science University
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.

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On 23 April, Gail Mandel presented the complex pathology of Rett syndrome and discussed whether this autism-related disorder would be amenable to gene replacement strategies.

Her talk was part of the Simons Foundation Autism Research lecture series. You can watch a complete video recording of the event above.
 

About the Lecture

A central goal in neuroscience is determining the genetic basis of neurological disorders — from autism to brain tumors. Many of these pathological states result from defects in gene regulatory programs that are fundamental to all cell types but lead to dysfunction specifically within the nervous system. Mandel investigates the basis of this phenomenon and has identified cell-cell interactions between neurons and glia — brain cells that support neurons and help process information — involved in brain development.

Mandel has been able to treat the brain pathology of one autism-related disorder, Rett syndrome, by genetically replacing the defective MeCP2 gene with a good copy of the gene in astrocytes — a type of glia. She is exploring the underlying mechanisms crucial for neuronal signaling.

About the Speaker

Gail Mandel holds a Ph.D. in immunology from the University of California, Los Angeles, and did postdoctoral work in biochemistry and molecular biology there and at the University of California, San Diego, and Harvard Medical School. She began her career at Tufts Medical School, where she was one of the first investigators to clone and express mammalian voltage-dependent ion channels. In the department of neurobiology and behavior at Stony Brook University, she identified the protein REST, which is responsible for regulation of sodium channel expression and the acquisition of cellular excitability. These discoveries have helped unlock the mechanisms through which embryonic cell types differentiate specifically into neurons. Mandel is a senior scientist in the Vollum Institute at Oregon Health & Science University. She is an Investigator of the Howard Hughes Medical Institute and a member of the American Academy of Sciences and the National Academy of Sciences.

Past Lectures

How emotions shape our memories

Kelsey C. Martin, M.D., Ph.D.Director, SFARI
Director, Simons Foundation Neuroscience Collaborations
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.

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.

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