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 co-director of the Montreal Neurological Institute’s Rare Neurological Diseases Group since 2011. He is co-director of McGill’s Neuromuscular and Neurogenetics Fellowships. 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).
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
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
Costei, C, Barbarosie, M, Bernard, G, Brais, B, La Piana, R. Adult Hereditary White Matter Diseases With Psychiatric Presentation: Clinical Pointers and MRI Algorithm to Guide the Diagnostic Process. J Neuropsychiatry Clin Neurosci. 2021.33 (3)180-193 PMID:33951919
Forgues, C RD, MSc, Fortin, J BA, Gagnon, C OT, PhD, Brisson, JD MD, Mathieu, J MD, MSc, Brais, B MD, PhD et al.. Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia. Can J Diet Pract Res. 2021.82 (2)95-97 PMID:33876991
Slayter, J, Hodgkinson, V, Lounsberry, J, Brais, B, Chapman, K, Genge, A et al.. A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method. J Neuromuscul Dis. 2021.8 (4)579-588 PMID:33867362See more on PubMed