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Research and Treatment Development for CANVAS 

National Ataxia Foundation
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Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is a rare neuromuscular disease. The National Ataxia Foundation is proud to host this webinar presented by Dr. Andrea Cortese on February 15th, 2024. In "Research and Treatment Development for CANVAS", he teaches us how it is studied and give an overview of the current state of research and drug development for the disease.
For more information on Ataxia, please visit our website: www.ataxia.org
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Speaker: Andrea Cortese, MD, PhD
Institution: University College London, UK & University of Pavia, Italy
About the Speaker:
Andrea Cortese, MD, PhD is a Neurologist and MRC Clinician Scientist at the University College London, UK and University of Pavia, Italy. His research focuses on the discovery, modelling and treatment of novel causes of ataxia and other neurogenetic diseases, with particular interest in repeat expansion disorders and conditions caused by variations in non-coding DNA.
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.

Опубликовано:

 

18 фев 2024

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Комментарии : 1   
@MichaelGirling-pk2ez
@MichaelGirling-pk2ez 2 месяца назад
Background first - I am a CANVAS patient with dry cough first presenting in 1995 and first symptom of imbalance in 2011. I now prefer to walk with a stick outside of the house. This was a very useful presentation that I came across after the "live" session but here's my question: I have not studied the subjects involved in Dr Cortese's presentation so please forgive me if this is an elementary mistake.. If the recessive gene is present in 1/10 cases and it requires the presence of this gene in both partners, isn't the expected frequency of the disease 1/100? My neurologist has said the frequency (so far) is about 5 in a million. A big difference.
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