Grant: Operating Grant

Spinal muscular atrophy (SMA) is the number one genetic killer of young children. It is a group of inherited and often fatal diseases that destroys the nerves controlling voluntary muscle movement, with the result that activities like crawling, walking, head and neck control, and even swallowing are affected. At present there is no cure for this devastating disorder. Fortunately, there has been great success at the development of appropriate mouse models for the severe and intermediate forms of the disease. These mice are helping us to get a better understanding of the pathological steps in the progression of the disease, and serve as pre-clinical models for the development and testing of novel therapeutics. Indeed, our work has shown that both motor neurons and skeletal muscle have intrinsic defects, and that both cell types need to be targeted for effective therapy.