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Lead investigator

Collaborators & Co-Investigators

• Sameer Chhibber, MD
• A.P. Jason de Koning, PhD

Research Sites & Affiliations

• University of Calgary, Calgary, Alberta

Budget: $100,000

Disorders: Immune-Mediated Myopathies (Myositis) ,   Genetic myopathies ,   Limb girdle muscular dystrophies

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

Adult onset myopathies are a group of conditions which are exceedingly difficult to diagnose despite the availability of genetic testing. The majority of cases do not obtain a genetic diagnosis, and other investigations such as muscle biopsy or MRI may not be specific enough to help diagnosis in many cases. Current research has worked on new tools for this. This study will conduct sequencing of RNA from single muscle cells using a new method developed by the research team. This will compare patients with muscle weakness to those with normal muscle. The results of this study will highlight differences in the cell proportions between groups which in turn will help people get a diagnosis for muscle disease in the future.

Impact: