Understanding and treating genetic diseases

The McNally Lab

Mutations in cytoskeletal and sarcomere proteins cause heart failure and muscle weakness. In the McNally Lab, we use novel computational methods to analyze whole genome sequencing from humans to identify novel genes and alleles linked to human disease. We model these mutations in human cells using induced pluripotent stem cell technologies to determine how these mutations act. We are defining gene-gene interactions using genome analysis, genome editing and quantitative trait locus mapping.