DMD/BMD

Duchenne muscular dystrophy (DMD) is the most common lethal genetic disorder in Canada and worldwide. It is characterized by progressive muscle degeneration, wasting, and loss of muscle function. The mean age of death is around 25–30 years. DMD and its milder form, Becker muscular dystrophy (BMD), are X-linked recessive disorders that arise from mutations in the dystrophin (DMD) gene.

My research group is working towards the goal of finding a cure for DMD. We have established the feasibility of a novel molecular therapy called exon skipping in multiple models of DMD. Exon skipping employs short DNA-like molecules called antisense oligonucleotides (AONs) that act as a stitch to skip over (splice out) the frame-disrupting part of the DMD gene. We will take this therapeutic approach a step further by experimenting with skipping multiple exons using novel delivery tools.

The overall objective is to:

1. maximize the efficacy of exon skipping

2. expand the applicability of exon skipping

3. optimize the functionality of truncated dystrophin with multi-exon skipping. 

By doing so, we hope to improve the quality of life for those affected by DMD and potentially lead to a cure for this devastating disease.

Last updated: 1 October, 2023