Over 400 different genes have been shown to be causal for different neuromuscular disorders, and the majority of these diseases will benefit from gene replacement and/or gene editing approaches. A main issue faced by the field is the ability to deliver these platforms to the proper site and with sufficient efficiency. The Spencer and Pyle labs have developed a CRISPR-based gene editing platform that can restore the DMD reading frame for 50% of DMD patients and we are assessing a variety of approaches to deliver the platform in vivo, including stem cell engraftment, nanoparticles and AAV-mediated delivery. We are also screening AAV libraries to identify novel AAV serotypes that can target muscle stem cells. Furthermore, we have initiated a program to develop a gene therapy for limb girdle muscular dystrophy type R1/2A, due to mutations in CAPN3.
