Gene editing with CRISPR/Cas9 for Duchenne Muscular Dystrophy

CRISPR/Cas9 technology has the ability for personalized and permanent gene correction.  Using CRISPR/Cas9, we developed a platform to remove a hotspot mutation region encompassing exons 45-55 of the DMD gene to restore the reading frame and create a stable dystrophin protein. To demonstrate the efficacy of gene editing using our platform we reprogrammed multiple DMD patient fibroblasts to human induced pluripotent stem cells and differentiated these into affected cell types including skeletal and cardiac muscle and restore dystrophin expression and function in vitro and in vivo.