Neuromuscular diseases (NMDs) collectively affect ~1/1,000 people and patients who suffer from these diseases typically sustain detrimental health effects that negatively impact quality of life and/or shorten lifespan. To date, most NMDs do not have cures or dependable treatments. This is partly due to significant gaps in knowledge regarding mechanisms influencing NMD onset and progression. Long term goals include the development and utilization of cell and animal models to study NMDs, identification of novel therapeutic targets, and testing of these targets in physiologically relevant pre-clinical settings.
Ongoing projects in the lab include: 1) use of patient-derived induced pluripotent stem cells to model GNE myopathy, 2) cell and tissue cross-talk in Duchenne Muscular Dystrophy (DMD), 3) regenerative therapy testing in GNE myopathy and DMD.