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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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:31673761
Gagnon, C, Brais, B, Lessard, I, Lavoie, C, Côté, I, Mathieu, J et al.. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. Neurology. 2019.93 (16)e1543-e1549 PMID:31534027
Kurtz, NS, Cote, C, Heatwole, C, Gagnon, C, Youssof, S. Patient-reported disease burden in oculopharyngeal muscular dystrophy. Muscle Nerve. 2019.60 (6)724-731 PMID:31531865
Roussel, MP, Morin, M, Girardin, M, Fortin, AM, Leone, M, Mathieu, J et al.. Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1. BMC Res Notes. 2019.12 (1)526 PMID:31429798
Légaré, C, Overend, G, Guay, SP, Monckton, DG, Mathieu, J, Gagnon, C et al.. DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. Neurol Genet. 2019.5 (3)e338 PMID:31334355
Overend, G, Légaré, C, Mathieu, J, Bouchard, L, Gagnon, C, Monckton, DG et al.. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Hum. Mol. Genet. 2019.28 (13)2245-2254 PMID:31220271
De Antonio, M, Dogan, C, Daidj, F, Eymard, B, Puymirat, J, Mathieu, J et al.. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet J Rare Dis. 2019.14 (1)122 PMID:31159885
Roussel, MP, Morin, M, Gagnon, C, Duchesne, E. Correction to: What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. BMC Musculoskelet Disord. 2019.20 (1)244 PMID:31122216
Briand, MM, Rodrigue, X, Lessard, I, Mathieu, J, Brais, B, Côté, I et al.. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. J. Neurol. Sci. 2019.400 39-41 PMID:30901567
Roussel, MP, Morin, M, Gagnon, C, Duchesne, E. What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. BMC Musculoskelet Disord. 2019.20 (1)101 PMID:30836978
Raymond, K, Levasseur, M, Mathieu, J, Gagnon, C. Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1. Arch Phys Med Rehabil. 2019.100 (9)1629-1639 PMID:30831092See more on PubMed