My research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP).   Our work is focused on gene discovery and therapeutic development, specifically targeting RNA splicing.  My work in the Mass General Research Institute is focused on supporting investigators and promoting research at the hospital.  In 2013, I was named the Elizabeth Riley and Dan E. Smith, Jr. MGH Research Scholar.