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Lead investigator

Research Sites & Affiliations

• Centre de recherche du CHU Sainte-Justine, Montreal, QC

Budget: $40,000

Disorders: All Neuromuscular Disorders (cross-cutting) ,   Duchenne/Becker Muscular Dystrophy ,   Genetic myopathies

Research Areas: Cell-based modeling and screening ,   Diagnostic tools ,   Tissue bioengineering

Abstract: 

Skeletal muscles are essential to many physiological functions; yet, because myopathies are rare and heterogeneous, diagnosing and treating them can be quite difficult. This project presents an innovative approach to advance the understanding of satellite cell-opathies, a unique group of illnesses that affect the function of muscle stem cells. This project will use muscle cells and 3D tissue engineering to test the effect of rare genetic variations linked to satellite cell-opathies on myogenic cell function. This project aims to provide insight into the molecular pathways underlying these disorders and pinpoint possible targets for treatment. This project not only lays the groundwork for investigating secondary satellite cell-opathies, which will advance our understanding of the role of muscle stem cells in disease progression, but it also holds potential for offering patients with satellite cell-opathies individualized therapy options.

Impact: