All About SYNE1 Ataxia скачать в хорошем качестве

All About SYNE1 Ataxia

SYNE1 Related Autosomal Recessive Ataxia or SYNE1 is a rare neuromuscular disease. SYNE1 Ataxia can be referred to as any one of the following: •     Autosomal Recessive Spinocerebellar Ataxia-8 (SCAR8) •     Autosomal Recessive Cerebellar Ataxia type 1 (ARCA1) •     SYNE1 Related Autosomal Recessive Ataxia (SYNE1 Ataxia) •     Autosomal Recessive Ataxia, Beauce type The National Ataxia Foundation is proud to host this webinar presented by Dr. Nicolas Dupré on May 2nd, 2024. In "All About SYNE1", he gave an overview of the causes and symptoms of SYNE1 Ataxia, the typical diagnostic journey for those affected, what to expect for clinical care, and an overview of current research into the disease. For more information on Ataxia, please visit our website: https://www.ataxia.org Become a Free NAF member! https://bit.ly/JoinNAF Follow us on Social Media! NAF Facebook:   / ataxiafounda.  . NAF Twitter:   / naf_ataxia   NAF Instagram:   / ataxiafound.  . Ataxia Subreddit:   / ataxia   About the Speaker- Nicolas Dupré, MD, MSc, FRCP(C) Title: Neurologist Institution: CHU de Québec - Université Laval Bio: Dr. Dupré is a neurologist at the CHU de Québec-Laval University, a Full Professor in the Department of Medicine of the School of Medicine (Laval University), and the Director of the Neuromuscular and Neurogenetic Disease Clinic of the CHU de Québec – Université Laval. Dr. Dupré completed his medical training at McGill University and his residency in neurology at Laval University. He completed his postdoctoral training at the Montreal Neurological Hospital and Institute and at Harvard University. In 2007, he discovered a gene (syne-1) implicated in a new form of hereditary ataxia that has since been highly recognized internationally. Dr. Dupré is now involved in several provincial, national, and international networks that contribute to the discovery of genes involved in neurological diseases. He has generated more than 100 original publications. Dr. Dupré’s remarkable achievements have earned him several awards, including the 2015 Quebec Society of Muscular Dystrophy Award – ALS component – related to his involvement in the Clinic for Neuromuscular and Neurogenetic Diseases. 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.