All About SCA12

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  • čas přidán 4. 07. 2024
  • Spinocerebellar Ataxia Type 12 or SCA12 is a rare neuromuscular disease. The National Ataxia Foundation is proud to host this webinar presented by Dr. Russell Margolis on June 28th, 2024. In "All About SCA12", he gave an overview of the at the causes and symptoms of the disease, 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: www.ataxia.org
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    About the Speaker-
    Russell Margolis, MD
    Title: Professor of Psychiatry and Neurology
    Institution: Johns Hopkins University
    Bio: Dr. Russell L. Margolis is Professor of Psychiatry and Neurology in the Department of Psychiatry and Behavioral Sciences of the Johns Hopkins University School of Medicine in Baltimore, Maryland. Dr. Margolis received his undergraduate degree from Princeton University and his M.D. degree from the Johns Hopkins University School of Medicine, and completed residency training in Psychiatry at the Johns Hopkins Hospital. After a fellowship in neurobiology at the National Institute of Mental Health, he joined the Johns Hopkins faculty, where his clinical and research interests lie at the interface of psychiatry, neurology, and genetics, with a particular focus on diseases caused by repeat expansions and on schizophrenia. His group, the Laboratory of Genetic Neurobiology, first described the repeat expansion disease spinocerebellar ataxia type 12, discovered its causative mutation, and developed a genetic test for the disorder. He and his colleagues, in work now led by Dr. Pan Li, have continued to explore the pathogenesis of SCA12. In addition to his research into repeat expansion diseases and schizophrenia, Dr. Margolis continues to evaluate and treat patients, primarily with schizophrenia, and to teach students at all levels.
    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.

Komentáře • 1

  • @ranarahbar3074
    @ranarahbar3074 Před 6 dny

    Could you please speak about the SCA 34 too. Thank you so much