|Title||Associate Professor, Director of the CF Gene Therapy Core|
My focus is in developing gene or pharmacologic therapies for genetic diseases in which mutations lead to chronic diseases. I devote significant effort to developing treatment strategies for cystic fibrosis (CF), a lethal autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. I study treatment options for other ABC transporters, similar to CFTR, such as ABCA4, which causes, Stargardt macular degeneration which leads to macular destruction in children. I am actively involved in developing strategies for reducing cyst formation in Autosomal Dominant Polycystic Kidney disease , the most common dominant genetic disorder in humans.