Research Directions
With the advent of cheap and widespread genome sequencing, we are discovering more mutations than ever. Genetic testing in the clinic is becoming commonplace, and genomic screening for actionable Mendelian diseases is increasingly being deployed. A major challenge, however, is that a majority of variants are Variants of Uncertain Significance, blunting the clinical impact of genetic testing. Our lab uses large biobank datasets to identify candidate disease-associated variants, and high-throughput in vitro studies to test the function of these variants. We focus on arrhythmia disorders, transmembrane proteins, and ion channels. Our goal is to reclassify variants from Variants of Uncertain Significance to Pathogenic or Benign, to better predict and ultimately prevent disease.