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Lead investigator

Collaborators & Co-Investigators

• Emmanuelle Querido, PhD

Research Sites & Affiliations

• University of Montréal, Montreal, Quebec

Budget: $100,000

Disorders: Myotonic Dystrophy

Research Areas: Discover Novel Treatments & Therapies

Abstract: 

There is currently no cure for patients with myotonic dystrophy. This muscle disorder is caused by an expansion in a section of the gene – a highly repetitive sequence called CTG triplet repeats. When that happens, it can be toxic in muscles and result in defects in the alternative splicing of several transcripts. There is a great need for a drug that targets the expression of the mutant gene or its toxic product in the muscles of patients. We developed a new drug that inhibits the expression of the mutant gene. This drug corrects the mis-splicing of key transcripts in muscle cells from patients. What we want to explore in this proposal is the capacity of the drug to work in an animal model of the disorder. We will assess the activity of these drugs in a mouse model expressing a human copy of the mutant gene. We will measure how this drug reduces the expression of the toxic transcript. This project might lead to the development of new drugs for the treatment of patients with myotonic dystrophy and improve their quality of life.

Impact: