Single molecule analysis of myotonic dystrophy mutant transcripts

Myotonic Dystrophy is the most common form of muscular dystrophy in adults. It is caused by transcribed repeat expansion sequences that remain in the nuclei of patients’ cells where they form distinct foci or spots, which interfere with key molecular processes. We are developing therapeutic compounds for this condition which eliminate the foci in patients’ cells. This project aims to understand the underlying molecular mechanisms that lead to foci formation and disruption, using state-of the-art microscopy and image analysis, alongside novel RNA sequencing techniques. Using a combination of molecular cell biological approaches, it should be possible to determine the molecular mechanism underlying foci formation and therefore improve attempts to develop a treatment for this condition.