New approaches to treating Rett syndrome

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


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. The lectures are open to the public and are held at the Gerald D. Fischbach Auditorium at the Simons Foundation headquarters in New York City. Tea is served prior to each lecture.

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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

Progress in understanding the genetic basis of mental health

Benjamin Neale, Ph.D.Associate Professor, Analytic and Translational Genetics Unit, Massachusetts General Hospital
Associate Professor in Medicine, Harvard Medical School
Associated Researcher, Broad Institute

On May 6, 2020, Benjamin Neale discussed progress in mapping genetic risk factors for autism, schizophrenia and bipolar disorder.

Autism, autisms, or neurodevelopmental disorders?

Jason Lerch, Ph.D.Director of Preclinical Imaging, Wellcome Centre for Integrative Neuroimaging, University of Oxford
Adjunct Scientist, Mouse Imaging Centre, The Hospital for Sick Children
Associate Professor in Medical Biophysics, University of Toronto

On January 29, 2020, Jason Lerch explored this question: What do modern ways of looking at brains and genes tell us about autism – or autisms – and its relation to attention deficit disorder, obsessive-compulsive disorder and other related disorders of brain development?

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