Our Research

Our laboratory has a strong focus on Duchenne Muscular Dystrophy (DMD), a progressive muscle wasting disease caused by out-of-frame mutations in the dystrophin gene, resulting in the complete absence of dystrophin protein. The dystrophin protein is a muscle membrane (termed sarcolemma)-associated protein that is necessary to prevent contraction-induced injury.  We also study the allelic genetic disorder, Becker Muscular Dystrophy (BMD), which is caused by in-frame mutations in the dystrophin gene leading to a truncated and semi-functional dystrophin protein product.

 

In our laboratory we employ a variety of techniques to 1) understand dystrophin regulation and function, 2) understand what drives and exacerbates inflammation in muscular dystrophies and other muscle disorders and 3) to generate and characterize novel mouse models of muscle disease. This includes investigating microRNAs that target and downregulate dystrophin, describing how specific microRNAs interact with Toll-like receptors, investigating crosstalk between muscle and the immune system, determining how a secondary dystrophin deficiency might impact other muscle disorders (e.g. myositis) and investigating how the quality of dystrophin protein affects BMD disease pathophysiology.

 

Recently, we have also started investigating the pathophysiology of Limb Girdle Muscular

Dystrophies caused by loss-of-function mutations in other structural proteins in muscle such as the sarcoglycans (SGCA and SGCG) and telethonin (TCAP) and are working with other faculty members within CIMR to move towards therapeutic interventions for these rare disorders.