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Lead investigator

Collaborators & Co-Investigators

• Bekim Sadikovic, PhD
• Leighton Scheyer, MSc

Research Sites & Affiliations

• Children's Hospital, London, Ontario
• London Health Sciences Centre, London, Ontario
• Western University, London, Ontario

Budget: $50,000

Disorders: Duchenne/Becker Muscular Dystrophy

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

At present there are no approved treatments for Duchenne muscular dystrophy (DMD) in Canada. One current gap is that we do not have effective and sensitive tools in place to evaluate new therapies to see if they do in fact improve health.

Our research aims at understanding if an epigenetic profile of DMD would be a potential biomarker of the muscle damage that can measure how severe the disorder is, its progression over time and if we can potentially use in the testing of new treatments. To do this we will screen blood from children impacted by DMD of different stages to see if epigenetic signatures are unique to DMD and if they change over time.
In addition to identifying potential marker for evaluating new therapies, the findings from this study could result in a faster, less expensive diagnostic screening test for DMD, and would be useful in scenarios of diagnostic uncertainty for disorders impacting the DMD gene (dystrophinopathies) like Duchenne and Becker muscular dystrophy.

Impact: