Diseases studied by the CNMD include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), peripheral neuropathies such as Charcot Marie Tooth (CMT) and Guillain-Barré Syndrome (GBS), myasthenia gravis and disorders of neuromuscular transmission, muscle diseases such as myotonic dystrophy (DM1) and Duchenne muscular dystrophy (DMD), channelopathies, inflammatory myopathies, and mitochondrial myopathies. A central focus of all three themes is the CNMD’s commitment to increasing public awareness of neuromuscular disease and research, through the establishment of strong ties to local patient outreach and other community groups.

Given the current areas of basic and clinical CNMD expertise, the Éric Poulin Centre for Neuromuscular Disease’s research is based around three main themes.

Research Objectives

• Advance our understanding of the molecular biology of NMD in the motor neuron, peripheral nerve, neuromuscular junction and muscle.
• Interrogate complex signaling systems regulating stem and progenitor cell differentiation, myoblast fate, and axonal development.
• Uncover the etiology of NMD, ranging from genetic causes to acquired and autoimmune disease mechanisms.

Research Objectives

• Elucidate the signaling pathways governing stem and progenitor cell differentiation and the cascades controlling compensatory gene expression to help develop novel therapies for the treatment of NMD.
• Develop and test novel, “rescued” or repurposed FDA-approved compounds as potential therapies for NMD.

Research Objectives

• Support NMD registries to accelerate translation of fundamental science discoveries into clinical research trials.
• Drive collaborative clinical research, including genetic, neuropathology, imaging, and clinical characterization of patients with NMD.
• Build the infrastructure to lead multicenter neuromuscular clinical trials.