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SUMMARY:MBL Friday Evening Lecture Series:   "Single Genes and Brain Synchronization: An Ion Channel Portrait of Epilepsy" - Jeffrey Noebels\, Baylor College of Medicine
DESCRIPTION:Throughout the last century\, the ability of electroencephalography to visualize fluctuating microvolt potential differences between two points on the scalp has guided our understanding of the cortical landscape as neurologists correlated both hyperactive (epileptic) and silent (ischemic) areas of brain damage with clinical deficits in their patients\, mapping the functional topography of the neocortex\, literally\, “stroke by stroke”. Later\, axon hyperexcitability and leg-shaking in the Drosophila mutant shaker led the way to the first gene encoding an ion channel. This same neurogenetic strategy motivated a search for spontaneous mutants in mice with EEG hyperexcitability\, and the discovery that a single gene locus in the tottering mouse causes childhood absence epilepsy\, establishing that common human epilepsy syndromes could be inherited as a mendelian disorder. Today\, genes for 800 monogenic epilepsies\, of which over 100 involve mutations in voltage- and ligand-gated ion channel genes\, not only allow precision clinical diagnosis and gene-directed treatment of epilepsies but illuminate the molecular anatomy of neuronal microcircuitry “gene by gene”. Current research linking abnormal cortical synchronization with ion channelopathy is providing remarkable insights into developmental brain plasticity and a powerful experimental framework to cure rare neurological disorders. Unexpectedly\, the approach bridges the pathophysiology of previously unrelated conditions\, including cardiac arrhythmias and sudden unexpected death\, Alzheimer’s disease\, and growth of malignant brain tumors. \nJeffrey Noebels is Cullen Chair in Neurogenetics and Professor of Neurology\, Neuroscience\, and Molecular and Human Genetics\, and founding director of the Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor College of Medicine. His major research focus is to identify gene mechanisms of cortical network synchronization and molecular targets for the treatment of epilepsy and its comorbidities. His pioneering discovery of the first single gene mouse model for childhood epilepsy in 1979 transformed the experimental approach to this disease. Noebels graduated from Reed College and received his Ph.D. in Neuroscience at Stanford\, postdoctoral training in Neuropathology at Harvard\, M.D. at Yale\, and neurology residency training at Massachusetts General Hospital. He was a Basil O’Connor and Klingenstein Fellow\, Pew Scholar\, and Javits Awardee. He is a past President of the American Epilepsy Society\, a current ILAE Ambassador and AAAS Fellow\, and a proud former Grass Foundation Trustee.
URL:https://woodshole.com/event/mbl-friday-evening-lecture-series-single-genes-and-brain-synchronization-an-ion-channel-portrait-of-epilepsy-jeffrey-noebels-baylor-college-of-medicine/
LOCATION:Marine Biological Laboratory\, 7 MBL Street\, Woods Hole\, MA\, 02543\, United States
ATTACH;FMTTYPE=image/jpeg:https://woodshole.com/wp-content/uploads/2023/07/Jeffrey-Noebels.jpg
ORGANIZER;CN="Marine%20Biological%20Laboratory":MAILTO:cjohnson@mbl.edu
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