Professor, Rehabilitation, Université de Sherbrooke; Researcher, FRQS Centre de recherche du CRCHUS
Visiting Professor, uOttawa and CHEO-RI
NMD4C Working Group(s): Expert Patient Capacity Building, Knowledge TranslationEmail Cynthia
Cynthia is a senior career-award researcher specializing in adult genetic neuromuscular disorders. She holds a professorial appointment at the School of Rehabilitation at the University of Sherbrooke. She is the scientific director of the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) and is a researcher at the Centre de recherche Charles-Le Moyne-Saguenay-Lac-St-Jean sur les innovations en santé.
Cynthia trained as an occupational therapist at McGill University. She has a doctoral degree in experimental medicine from Laval University and pursued a postdoctoral fellowship in program evaluation at Montreal University. Her work aims at improving clinical care and speeding up trial readiness in the most prevalent neuromuscular diseases in Canada. Her main interest is to document the natural history of the disease through an interdisciplinary perspective to be able to document the progression of the disease and to identify significant predictor and explanatory factors related to participation in daily activities and social roles of patients such as work and autonomous living. Her other interest is to define the best outcome measures to assess potential therapeutic targets such as muscle strength, fatigue or cognitive functions. She also works on developing knowledge translation strategies related to rare diseases to ensure effective and just-in-time knowledge translation to the interdisciplinary team through different strategies including wiki, articles, clinical practice guidelines to improve clinical care for patients and their families.
She is involved in several international projects in relation to myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Within NMD4C, Cynthia is lead for knowledge translation.
Conte, TC, Duran-Bishop, G, Orfi, Z, Mokhtari, I, Deprez, A, Côté, I et al.. Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1. Nat Commun. 2023.14 (1)4033 PMID:37468473
Traschütz, A, Adarmes-Gómez, AD, Anheim, M, Baets, J, Brais, B, Gagnon, C et al.. Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients. Ann Neurol. 2023.94 (3)470-485 PMID:37243847
Fortin, J, Côté, I, Gagnon, C, Gallais, B. Do classical and computerized cognitive tests have equal intrarater reliability in myotonic dystrophy type 1?. Neuromuscul Disord. 2023.33 (6)490-497 PMID:37209494
Tremblay, M, Brais, B, Asselin, V, Buffet, M, Girard, A, Girard, D et al.. The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale. Cerebellum. 2023. PMID:37165279
Lessard, I, Côté, I, St-Gelais, R, Hébert, LJ, Brais, B, Mathieu, J et al.. Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study. Cerebellum. 2023. PMID:37101017See more on PubMed