Targeting impaired myogenesis and muscle regeneration defects in GNE myopathy

Neuromuscular diseases (NMDs) are life-altering conditions typically resulting in disability, poor quality of life, and eventual long-term dependency on care-givers. Many NMDs do not have cures or substantive treatments. We will develop and utilize cell and animal models to study regenerative defects in one type of NMD, GNE myopathy. We anticipate that the tools and knowledge gained here will help facilitate the development of new therapeutic options for GNE myopathy patients.