Grant: Doctoral: Vanier Canada Graduate Scholarships

There are approximately 7,000 rare disorders caused by mutations in the genetic material known as DNA, which afflict hundreds of thousands of Canadians. Almost half of these disorders are caused by a specific DNA or gene mutation. Unfortunately, treatment exists for only a small subset of the conditions. Therefore, a significant gap exists between our knowledge of these disorders and our ability to treat them. Our group, in collaboration with national and international colleagues, is spearheading the discovery of treatments for rare genetic disorders. Our research is based on the hypothesis that, among the many undiscovered functions of the thousands of drugs approved for use in humans, there will be some that treat rare genetic human disorders. The use of this approach to re-purpose medications already safely used in humans, will significantly reduce the time and cost usually attributed to drug development. We have already shown proof of this principle as clinical trialing of Celebrex (anti-arthritic) is underway for its use against the severe childhood disorder spinal muscular atrophy. The focus of the present research proposal is to validate the use of the antibiotic anisomycin to treat the severe muscle degenerative disorder Duchenne muscular dystrophy (DMD). Previous work performed by our lab has already presented a strong rationale for the use of this clinic-ready compound to treat DMD. Further validation of anisomycin as a treatment for DMD will be performed by means of a variety of cell-based and animal-based experiments. There is currently no treatment for DMD. Given our previous success in the area of re-purposing clinic-ready compounds, we are hopeful that this research will provide a valid treatment option for the children who suffer from this disorder. This work will also promote re-purposing drugs as an efficient strategy to be used in the development of treatments for other rare genetic disorders that plague millions of people around the world.