All About SCA14

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  • เผยแพร่เมื่อ 6 ก.ย. 2024
  • Spinocerebellar Ataxia Type 14 or SCA14 is a rare neuromuscular disease. The National Ataxia Foundation is proud to host this webinar presented by Dr. Dong-Hui Chen and Dr. Thomas Bird on April 3rd, 2024. In "All About SCA14", they 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 Speakers-
    Speaker 1: Dong-Hui Chen, MD, PhD
    Title: Assistant Professor, Department of Neurology
    Institution: University of Washington
    Bio: Dong-Hui Chen, MD, PhD, is an Assistant Professor in the Department of Neurology at the University of Washington, specializing in neurogenetic research. She obtained her MD degree from Shanghai Medical University in Shanghai, China, followed by a PhD in medical genetics from Kobe University in Kobe, Japan. Dr. Chen's primary research focus lies in discovering the genetic causes of neurological disorders, with a specific emphasis on spinocerebellar ataxia, and investigating the mechanisms underlying these neurogenetic diseases. Her notable contributions to the field include identifying PRKCG as the gene responsible for SCA14.
    Speaker 2: Thomas D. Bird
    Title: Professor Emeritus, University of Washington
    Institution: University of Washington
    Bio: Thomas Bird, MD, has belonged to the UW neurology and medical genetics faculties for more than 35 years. Since the founding of the UW ADRC, he has pursued his interest in hereditary diseases of the nervous system. He has worked to identify new and unusual genetic diseases of the brain and neuromuscular system and collaborated with molecular biologists to identify the underlying genes of diseases, including Hereditary Ataxia. Dr. Bird is the Director of the University of Washington Neurogenetics Clinic, the University of Washington Huntington’s Disease Center of Excellence, and Co-Director of the University of Washington’s Muscular Dystrophy Clinic. Dr. Bird is also a medical and scientific advisor to the Jim Lambright Niemann-Pick C Research Foundation and the PNW Friends of FSH Muscular Dystrophy.
    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.

ความคิดเห็น • 5

  • @JGL.
    @JGL. 4 หลายเดือนก่อน

    Thank you for this upload! I was diagnosed for SCA14 around 8 years ago. Much as Neurogenetics is not my field, I love to learn about this very relevant information. Appreciated 💜

  • @kristinataylorthriftingupn7127
    @kristinataylorthriftingupn7127 4 หลายเดือนก่อน

    Hi. My husband has ataxia. Cerebellar Ataxia as a result to bacterial meningitis after a brain tumour resection in 2016. It has been degenerative and he is basically bed ridden as of October 2023.
    Thanks for the information ❤

  • @davidclark3603
    @davidclark3603 4 หลายเดือนก่อน

    I've had problems for 13 years!!! I haven't got a diagnosis yet, I can hardly walk now and I'm getting worse each day!!!!!!

  • @johandejager6575
    @johandejager6575 4 หลายเดือนก่อน

    Hallo Doc , I have dysarthric speech which is highly not good even though I do not speak much.

  • @FredFlinstone-ic5op
    @FredFlinstone-ic5op 4 หลายเดือนก่อน

    i got ska 34 is there anything going on with it