SCA27B is a rare neuromuscular disease. The National Ataxia Foundation is proud to host this webinar presented by Dr. Bernard Brais and Dr. David Pellerin on December 12th, 2023. In "Research and Treatment Development for SCA27B", they teach us how it is studied and give an overview of the current state of research and drug development for the disease.
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About the Speakers-
Bernard Brais, MDCM, MSc, PhD, FRCP(C)
Title: Director
Institution: Rare Neurological Diseases Group of the Montreal Neurological Institute-Hospital of McGill University
Bio: Bernard Brais, MDCM MSc PhD FRCP(C), neurogeneticist, is Director of the Rare Neurological Diseases Group of the Montreal Neurological Institute-Hospital of McGill University. He follows a large number of ataxia patients in his clinics of the Montreal Neurological Hospital, the Montreal Lucie-Bruneau Rehabilitation Center and the Saguenay Neuromuscular Clinic. His research largely focuses on the genetic basis of neurogenetic disorders with founder effects in Quebec, with a special interest in ataxias and myopathies. Dr. Brais has played important roles in identifying causal genes for Oculopharyngeal muscular dystrophy (OPMD), Hereditary Sensory and Autonomic Neuropathy type II (HSANII), Limb Girdle Muscular Dystrophy with Quadriceps atrophy (LGMD2L), Pol III-related leukodystrophies, ZAK congenital myopathy and more recently SCA27B caused by GAA expansions in the FGF14 gene.
David Pellerin, MD, MSc, FRCPC
Title: Neurogenetics Fellow
Institution: UCL Queen Square Institute of Neurology and The Hospital for Neurology and Neurosurgery in London, UK
Bio: David Pellerin, MD, MSc, FRCPC is currently a Neurogenetics Fellow at the UCL Queen Square Institute of Neurology and The Hospital for Neurology and Neurosurgery in London, UK. He received his medical degree from the University of Sherbrooke in Sherbrooke, Canada, and subsequently completed his residency in adult neurology at McGill University in Montreal, Canada.
About the Series:
NAF is producing a series of monthly educational webinars that focus on one type of Ataxia at a time. Each month we will feature a different type. Clinical experts will join us to take a look at the causes and symptoms of the disease, the typical diagnostic journey for those affected, and what to expect for clinical care. Research experts will teach us how the disease is studied and give an overview of the current state of research and drug development.
19 дек 2023
