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JOINT SEMINARS IN NEUROSCIENCE
TUESDAY, DECEMBER 1, 2015 AT 12:00 NOON
Speaker: BENJAMIN PHILPOT, PhD, Professor, Department of Cell Biology and Physiology, Neuroscience Center, Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, North Carolina
Host: STEPHANIE WHITE, PhD, Professor, Departments of Integrative Biology and Physiology, UCLA Brain Research Institute, David Geffen School of Medicine at UCLA
Title: "Pharmacogenetic Insights Into Neurodevelopmental Disorders"
12:00pm Neuroscience Research Building (NRB) Auditorium, UCLA
Angelman syndrome (AS) is a debilitating autism spectrum disorder for which no effective treatment or cure currently exists. AS is caused by maternal deletions or mutations of a single gene, the E3 ubiquitin ligase UBE3A. The UBE3A is expressed monoallelically in neurons due to epigenetic silencing of the paternal allele, so losing function of the maternal allele eliminates UBE3A protein. Motivated by this biology, we hypothesized that neural and behavioral dysfunctions associated with AS could be treated by unsilencing the intact paternal UBE3A. Towards this goal, we developed the first-ever screen to identify small molecule compounds that can unsilence an imprinted gene. This seminar will discuss the assay development, drug screen, target identification, and pre-clinical testing of potential AS therapeutics that arose through our novel drug discovery approach. Additionally, the seminar will cover some of our efforts to uncover the functional role of UBE3A in the brain.