A physiotherapist who graduated from Université Laval in 2006, Elise Duchesne has contributed to the study of rare diseases using a translational research model. In addition to participating in natural history studies and developing interventional studies, she has established a biobank of phenotypic data and biological material collected from patients with myotonic dystrophy type 1 (DM1), Charlevoix-Saguenay spastic ataxia (CSRA) and oculopharyngeal muscular dystrophy (OPMD). She has been an active member of several international consortia working to develop therapies for people with DM1 since 2020. Pre Duchesne plays a central role in linking basic and clinical research in neuromuscular diseases in Canada.
Keywords
Rare diseases, rehabilitation, skeletal muscle, biobanking, translational research, physiology, pathophysiological mechanisms
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