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Neuromuscular diseases (NMD) represent a broad group of rare genetic and acquired disorders, affecting over 300,000 people in Canada. Given the multiple different NMD subtypes, many of the patients with NMD remain undiagnosed.  


The goal of this study is to provide more rapid diagnosis for patients with rare NMD and work collaboratively to identify NMD biomarkers and characterize disease mechanisms to advance potential therapies of tomorrow. 


The B3 for NMD strategic proposal creates a streamlined approach to develop the Bench (preclinical and laboratory characterization) to Bedside (clinical and imaging assessment) and Back (biomarker development) approach to develop transformative therapies for patients with rare NMDs. We are working to collect clinical information, patient tissue samples to help characterize these rare NMD and work with our basic scientist colleagues to help develop better ways to diagnose and treat patients with NMD.  

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