Summary:
Congenital muscular dystrophies (CMDs) are debilitating disorders that disrupt muscle function from birth. A single genetic mutation may alter interactions among thousands of genes across the different cell types that make up skeletal muscle. However, how abnormal genetic interactions (networks) contribute to muscular dystrophies is not entirely understood by scientists. To address this challenge, our project will employ leading-edge DNA sequencing technologies to reconstruct gene networks for all cell types involved in normal muscle formation, as well as in the onset of LAMA2-CMD in a mouse model. This is the first study to quantify gene expression while simultaneously tracking the identity and abundance of all cell types in the context of LAMA2-CMD onset in mice. By providing a wealth of genetic data and bioinformatic resources, our project promises to advance basic knowledge of muscle formation while broadly informing the search for therapeutic targets for LAMA2-CMD.
Funding Institution:
Frech Muscular Dystrophy Association (AFM-Téléthon)
