Visiting Professor, uOttawa and CHEO-RI
Professor, Sherbrooke University Faculty of Medicine and Health SciencesEmail 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 insure 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 focusing on myotonic dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Cynthia is a visiting professor at the University of Ottawa and CHEO Research Institute for 2020 and works with the Lochmüller Lab team on areas of shared interest including patient registries, natural history studies and biobanking, as well as the newly funded NMD4C neuromuscular disease network for Canada, where she leads the knowledge translation work. She will also bring her extensive myotonic dystrophy patient cohorts into the work underway to identify potential biomarkers in myotonic dystrophy type 1.
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Lessard, I, St-Gelais, R, Hébert, LJ, Côté, I, Mathieu, J, Brais, B et al.. Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay. Orphanet J Rare Dis. 2021.16 (1)432 PMID:34649570
Côté, C, Fortin, J, Brais, B, Youssof, S, Gagnon, C. Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population. Qual Life Res. 2021. PMID:34292466
Gagnon, C, Fortin, J, Lamontagne, ME, Plourde, A. The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases. J Neuromuscul Dis. 2021. PMID:34250944
Traschütz, A, Reich, S, Adarmes, AD, Anheim, M, Ashrafi, MR, Baets, J et al.. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. 2021.12 677551 PMID:34248822
Roussel, MP, Fiset, MM, Gauthier, L, Lavoie, C, McNicoll, É, Pouliot, L et al.. Assessment of muscular strength and functional capacity in the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study. J Neurol. 2021.268 (11)4221-4237 PMID:33907889
Laberge, L, Gallais, B, Auclair, J, Dauvilliers, Y, Côté, I, Mathieu, J et al.. Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1. Can J Neurol Sci. 2021. 1-4 PMID:33875033
Tremblay, M, Muslemani, S, Côté, I, Gagnon, C, Fortin, J, Gallais, B et al.. Accomplishment of instrumental activities of daily living and its relationship with cognitive functions in adults with myotonic dystrophy type 1 childhood phenotype: an exploratory study. BMC Psychol. 2021.9 (1)56 PMID:33865455
Beauchesne, W, Savard, C, Côté-Hamel, M, Poliquin, É, Gagné-Ouellet, V, Gagnon, C et al.. Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study. Neuromuscul Disord. 2021.31 (3)226-231 PMID:33509648
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:32981404
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:32314404See more on PubMed