CNMD Strategic Research Themes
CNMD researchers focus on the development, pathophysiology, diagnostic investigations and therapies of disorders of the motor neuron, peripheral nerves, neuromuscular junction and muscle. Specific targeted diseases within 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 (DM1) and Duchenne muscular dystrophy (DMD), channelopathies and inflammatory myopathies. A central focus of all three themes is the CNMD 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, we identified three broad overarching themes for the Centre for Neuromuscular Disease.
Theme 1: Neuromuscular Function and Dysfunction
- Advance our understanding of the molecular biology of neuromuscular disease in the anterior horn cell, peripheral nerve, neuromuscular junction and muscle.
- Interrogate complex signaling systems regulating tissue-specific expression of genes controlling myoblast or axonal fate and morphogenesis.
- Uncover the etiology of NMD, ranging from genetic (known and novel genes) to acquired/autoimmune pathophysiological basis of the disease state.
Theme 2: Therapeutics Development
- Elucidate the signaling pathways governing stem and progenitor cell maintenance and differentiation, and cascades controlling expression of compensatory genes and proteins in order to exploit this new knowledge and develop novel regenerative and small molecule therapies for treatment of NMD.
- Develop and test novel, “rescued” or repurposed FDA-approved compounds as potential therapies for NMD.
Theme 3: Clinical Research
- 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.