Professor, Neurology and Human Genetics, McGill University
Neurologist and Director of the Rare Neurological Diseases Group, Montreal Neurological Institute and Hospital
NMD4C Working Group(s): Pillar 1: Preclinical Science, Pillar 2: Clinical Research, Theme 5: Open ScienceEmail Bernard
Bernard Brais, MDCM, MPhil, PhD, FRCP(C) is Full Professor of Neurology and Human Genetics at McGill University in Montreal. He is a trained neuromuscular neurologist, PhD in laboratory human genetics and historian of medicine. He is the director of the Montreal Neurological Institute’s Rare Neurological Diseases Group since 2011, and he is the director of McGill’s Adult Neurogenetics Fellowship.
His specialized practice is centered on the diagnosis and rehabilitation of rare often undiagnosed neurogenetic diseases, in particular: myopathies, ataxias, sensory neuropathies and leukoencephalopathies. Dr. Brais’ laboratory for the past 20 years has largely focussed on identifying new genes and mutations that cause hereditary diseases that are more prevalent in the French Canadian population of Quebec due to founder effects. He played a key role in the first identification of the genes responsible for: Oculopharyngeal Muscular Dystrophy (PABPN1, 1998), Hereditary sensory and autonomic neuropathy type II (HSN2/WINK1, 2004), Limb Girdle Muscular dystrophy LGMD2L-anoctamin 5 (ANO5, 2010), Posterior column ataxia and retinitis pigmentosa (FLVCR1, 2010), 0PolR3-related leukodystrophy (POLR3A and POLR3B, 2011), and congenital myopathy with fibre type disproportion (ZAK, 2017). Since 2007, he has been an international leader on collaborative research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Smith, IC, Chakraborty, S, Bourque, PR, Sampaio, ML, Melkus, G, Lochmüller, H et al.. Emerging and established biomarkers of oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2023.33 (11)824-834 PMID:37926637
Côté, C, Brais, B, Sèbiyo Batcho, C, Brisson, JD, Youssof, S, Allegue, DR et al.. Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development. Neuromuscul Disord. 2023.33 (11)856-865 PMID:37923656
Brisson, JD, Brais, B, Mathieu, J, Lessard, I, Gagné-Ouellet, V, Côté, I et al.. Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy. Muscle Nerve. 2023.68 (6)841-849 PMID:37849345
Ashton, C, Indelicato, E, Pellerin, D, Clément, G, Danzi, MC, Dicaire, MJ et al.. Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Commun. 2023.5 (5)fcad239 PMID:37705681
Novis, LE, Frezatti, RS, Pellerin, D, Tomaselli, PJ, Alavi, S, Della Coleta, MV et al.. Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. Neurol Genet. 2023.9 (5)e200094 PMID:37646005See more on PubMed