Remodel

Neuromuscular diseases collectively affect 160 per 100,000 people worldwide and are generally characterized by motor impairment and muscular atrophy. The major aim of our study is to elucidate the different epigenetic mediators and cellular subpopulations involved in the NMJ pathologies such as Duchenne muscular dystrophy (DMD) and Amyotrophic Lateral Sclerosis (ALS). We propose deeper NMJ analysis from muscle patient’s biopsies and a standardized 3D biofabrication platform consisting of iPSC-derived 3D-NMJ as reliable predictive models of DMD and ALS severity and progression. Integration of clinical data with genomics, transcriptomics, and epigenomics profiles of 3D-NMJ will provide valuable insights in NMJ susceptibility related to muscle pathology. The project will support mechanistic understanding of degenerative contributors to NMJ and development of innovative strategies, that will improve care for DMD and ALS patients.