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.
Bourassa, J, Routhier, F, Gagnon, C, Rahn, C, Hébert, LJ, St-Gelais, R et al.. Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study. Disabil Rehabil Assist Technol. 2020. 1-8 PMID:33307884
Breton, É, Légaré, C, Overend, G, Guay, SP, Monckton, D, Mathieu, J et al.. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Epigenomics. 2020.12 (23)2051-2064 PMID:33301350
Lessard, I, Gaboury, S, Gagnon, C, Bouchard, K, Chapron, K, Lavoie, M et al.. Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1. J Neuromuscul Dis. 2021.8 (1)137-149 PMID:33252090
Raymond, K, Levasseur, M, Gallais, B, Richer, L, Laberge, L, Petitclerc, É et al.. Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1. Disabil Rehabil. 2020. 1-17 PMID:33135946
Bourassa, J, Best, KL, Gagnon, C, Hébert, LJ, Brais, B, Routhier, F et al.. Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Disabil Rehabil Assist Technol. 2020. 1-9 PMID:32981404See more on PubMed