April 23, 2014: New Insights and Approaches for Studying Rett Syndrome, an Autism-Associated Disorder

April 23, 2014, 4:30-6:30 p.m. EST
Gerald D. Fischbach Auditorium at the Simons Foundation
160 Fifth Avenue, New York, NY

In this lecture, Gail Mandel will provide a general introduction to Rett syndrome (RTT), a neurodevelopmental disease of girls that results from defects in the gene encoding of the transcription factor methyl-CpG-binding protein 2 (MeCP2). She will provide evidence that the pathology is complex, involving defects in both neurons and astrocytes in conventional RTT mouse models. She will discuss emerging ideas about the normal function of the MeCP2 protein and her recent findings that point to a role for MeCP2 in 3-D chromatin architecture. Finally, she will discuss whether Rett syndrome could be amenable to gene replacement strategies.

Gail Mandel holds a Ph.D. in immunology from the University of California, Los Angeles (UCLA) and did postdoctoral work in biochemistry and molecular biology at UCLA; the University of California, San Diego; and Harvard Medical School. She began her career at Tufts Medical School in Boston, 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. Currently, 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 National Academy of Sciences.

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