NIH VideoCast - Angelman Syndrome Treatment Opportunities and Clinical Biomarkers

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Angelman Syndrome Treatment Opportunities and Clinical Biomarkers

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Air date:	Monday, February 24, 2020, 12:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 255 (48 Live, 207 On-demand)
Category:	Neuroscience
Runtime:	01:00:22
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	NIH Neuroscience Series Seminar Several neurodevelopmental disorders are caused by mutations in different, seemingly unrelated, genes (e.g. – UBE3A and TCF4). However, similar phenotypic manifestations suggest that these disorders share underlying cellular phenotypes, or give rise to perturbances that converge pathophysiologically at the circuit level. Dr. Philpot lab employs an array of modern scientific approaches to understand the pathophysiology underlying monogenic neurodevelopmental disorders, and leverage the knowledge gained from these approaches to develop gene therapies and novel drug treatments. Dr. Philpot lab seeks to understand the pathophysiology underlying monogenic neurodevelopmental disorders, and they use this information to develop therapeutics to treat these disorders. To accomplish these goals, they employ a variety of techniques: electrophysiology, biochemistry, molecular biology, optogenetics, behavioral phenotyping, gene therapy, and small-molecule drug screening. They are particularly focused on developing transformative treatments for Dup15q syndrome, Pitt-Hopkins syndrome, and Angelman syndrome. For more information go to https://neuroscience.nih.gov/neuroseries/home.aspz

Author:	Ben Philpot, PhD, UNC Chapel Hill School of Medicine

CIT Live ID:	35607
Permanent link:	https://videocast.nih.gov/watch=35607

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