September 27, 2016 – EST
Channelopathies are genetic disorders caused by mutations in human ion channel genes. A current challenge exists to discriminate pathogenic variants from those that are benign. Experimental approaches to meeting this challenge require high throughput and high fidelity electrophysiological recording platforms and a robust strategy to enable large scale, heterologous expression of recombinant ion channels. We have successfully combined two technologies, high capacity electroporation and automated patch clamp recording, to overcome barriers to functional annotation of several human variants in voltage-gated ion channels. Illustrations will be presented in how this strategy is being used to decrypt variants of unknown significance discovered in congenital long-QT syndrome and other channelopathies.
Dr. Alfred L. George, Jr.
Chair, Department of Pharmacology
Director, Center for Pharmacogenomics