Washington University in St. Louis (WU)
My research defines the functional and pathogenic consequences of human genetic variants using C. elegans as an in vivo platform. As Co-Director of the Undiagnosed Diseases Network C. elegans Model Organism Screening Center, I lead efforts to engineer patient-specific alleles into worm orthologs via CRISPR–Cas9 and systematically assess their impact on gene function. These studies establish variant pathogenicity, clarify underlying molecular mechanisms, and directly inform clinical diagnosis. In parallel, my laboratory combines forward and reverse genetic screens with systems pharmacology to uncover therapeutic targets and candidate compounds. Collectively, my research integrates mechanistic genetics with translational genomics to advance precision diagnosis and therapeutic development for rare genetic disorders.