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.
Bourcier, D, Bélanger, M, Côté, I, Brais, B, Synofzik, M, Brisson, JD et al.. Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. J. Neurol. Sci. 2020.417 117050 PMID:32736199
Duchesne, E, Hébert, LJ, Mathieu, J, Côté, I, Roussel, MP, Gagnon, C et al.. Validity of the Mini-BESTest in adults with myotonic dystrophy type 1. Muscle Nerve. 2020.62 (1)95-102 PMID:32314404
Brisson, JD, Gagnon, C, Brais, B, Côté, I, Mathieu, J. A study of impairments in oculopharyngeal muscular dystrophy. Muscle Nerve. 2020.62 (2)201-207 PMID:32270505
Gagnon, C, Gallais, B. Understanding factors hampering activities of daily living performance in childhood-onset myotonic dystrophy phenotypes. Dev Med Child Neurol. 2020.62 (6)665 PMID:31840805
Laberge, L, Gallais, B, Auclair, J, Dauvilliers, Y, Mathieu, J, Gagnon, C et al.. Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1. J. Neurol. 2020.267 (2)461-468 PMID:31673761See more on PubMed