Nanion Technologies - Webinar
"Decrypting variants of unknown significance in the channelopathies"
Date: 04. June 2020
Time: 4:00 PM CET / 10:00 AM EDT
Distinguished Chair, Director and Magerstadt Professor of the Northwestern Feinberg School of Medicine, Al George, will outline the significance of his work in Ion Channels and Channelopathies.
His research program is focused on the structure, function, pharmacology, and molecular genetics of ion channels. His laboratory has contributed greatly to understanding the mechanisms by which ion channel mutations cause a variety of inherited disorders of membrane excitability including congenital cardiac arrhythmia susceptibility and epilepsy. These basic and translational investigations have provided many opportunities to investigate the relationship between structure and function in ion channels and have helped establish important genotype-phenotype correlations for several human diseases and certain animal models.
Jen Q. Pan: "Analyzing rare variants of CACNA1I derived from schizophrenia patients."
CACNA1I is implicated in schizophrenia susceptibility in GWAS. However, the directionality of the function in CACNA1I associated with the genetic risk is not known. Here, we performed extensive functional characterization on 57 naturally occurring missense variants of CACNA1I derived from a schizophrenia cohort of 10,000 subjects. CACNA1I encodes CaV3.3 neuronal T-type calcium channel and our biophysical and biochemical analyses of this coding allelic series of CACNA1I revealed critical structural-activity relationship on the function of CaV3.3 channels, and provides potential molecular phenotypes of CaV3.3 associated with schizophrenia risk.