NIH R01 · 2025
Deep Mutational Scanning and Functional Analysis of Repolarization Determinants
PROJECT SUMMARY/ABSTRACT The underpinnings of sudden cardiac death are related to genetic and acquired ion channel abnormalities and many are related to potassium channel variants. Gains in phenotype-genotype correlative studies have revolutionized our understanding of a range of sudden arrhythmic death syndromes, yet currently, identification of coding variants has far outpaced our ability to correctly classify the variant, and for most genes there are more unclassified variants (variants of unknown significance, VUS) than classified. This creates barriers for clinical care, familial cascade screening and, moreover, a functional link to disease. The importance of physiologic and functional…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.