RNA Repeat Toxicity in Neuromuscular Degeneration

Nucleotide repeat expansions in non-coding regions of the genome have shown that RNAs can act as pathogenic species causing gain-of-function phenotypes. A number of neuromuscular degenerative disorders are associated with the presence of these toxic RNAs. The goal of our laboratory is to understand how these expanded RNAs cause broad cellular dysfunction and disease. We aim to investigate the distinct mechanisms that regulate these pathogenic processes, with a particular emphasis on Myotonic Dystrophy.