New insights into GI manifestations in late-onset Pompe disease: Lessons from the bench and bedside

My overall research interests are finding effective treatment for human inherited metabolic disorders, including glycogen storage diseases (GSDs) and lysosomal storage diseases (LSDs) . My current research focuses on identification of novel therapeutic targets and development of effective therapies for Pompe disease (GSD II) and Cori disease (GSD III) using murine and canine animal disease models. The main therapeutic approaches we are using in our pre-clinical studies include protein/enzyme therapy, AAV-mediated gene therapy, and substrate reduction therapy with small molecule drugs.