04.06.2020: Playback of the Channelopathies Webinar now available
Watch the Video of the Webinar now available On-Demand
"Decrypting variants of unknown significance in the channelopathies"
Rodolfo Haedo (COO; Nanion Technologies North America)
Dr. Jen Q. Pan (Director, Translational Neurobiology; Broad Institute of MIT and Harvard)
Prof. Al George (Magerstadt Professor and Chair - Department of Pharmacology; Northwestern University - Feiberg School of Medicine)
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.
Prof. Al George
"Decrypting Variants of Unknown Significance in Channelopathy-associated Epilepsy."
His lab was the first to elucidate the functional consequences of an ion channel mutation linked to an inherited cardiac arrhythmia (Long-QT Syndrome). This discovery contributed greatly to understanding arrhythmia susceptibility in the disease and inspired use of drugs targeting persistent sodium current as a therapeutic strategy. In this talk, Al will dive deeper into his work and significance as it relates to associated Epilepsy.