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Lead investigator

Research Sites & Affiliations

• SickKids Hospital, Toronto, ON

Budget: $40,000

Disorders: Duchenne/Becker Muscular Dystrophy

Research Areas: Gene targeting therapy (including gene transfer/ antisense oligonucleotides and gene editing) ,   In vivo models ,   Outcome measures for neuromuscular diseases

Abstract: 

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder arising from mutations in the DMD gene, encoding the dystrophin protein. While the most common mutations involve the deletion of single or large exons, intra-exonic insertions and deletions represent approximately 3% of DMD mutations. This study will examine genetic mutations in patient myoblasts, mouse models and in vivo investigations to design and evaluate a CRISPR-Cas9 nuclease. The most efficient design will be selected and tested on a humanized mouse model. This research serves as proof of concept, and it holds promise to be adapted for other hereditary diseases sharing similar mutational profiles.

Impact: