Muscular Dystrophy Genomics Research Collaborative
PI: King, Benjamin (Molecular and Biomedical Sciences, UMaine)
Sector: Healthcare, Genomics
Partners: UMaine
Abstract: Muscular dystrophy is a large group of debilitative diseases that result in weakened skeletal muscle and affect approximately 250,000 individuals in the US. Our interdisciplinary research collaborative seeks to discover the molecular mechanisms dysregulated in one form of muscular dystrophy by applying developmental biology, genomics and computational methods to characterize a novel zebrafish model developed at UMaine using CRISPR-Cas9. In one form of muscular dystrophy, individuals with mutations in GMPPB (GDPmannose pyrophosphorylase B) have variable muscular dystrophy phenotypes and ages of onset ranging from birth to adulthood and we hypothesize that this and other dystroglycanopathies are the result of defects in neuromusculoskeletal development. We propose to identify the molecular mechanisms that contribute to impaired muscle function in the novel zebrafish mutant by computationally modeling how networks of genes are dysregulated together to find critical regulatory genes.