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National Ataxia Foundation

Accelerate!

ICAR Tuesday Afternoon: Partnership & Understanding Ataxia

Written by Dr. Hannah Shorrock and Sarah Donofrio
Edited by Celeste Suart

Developing innovative imaging techniques and leveraging a clear understanding of disease mechanisms will pave the way for clinical trial success in the ataxias. We will discuss cutting-edge research findings on these topics this afternoon!

This session will feature an exciting collection of presentations about understanding the cellular pathways that lead to ataxia. We will also discuss how imaging techniques can be used to track symptom progression or their response to treatment.

The keynote will focus on three topics for success in clinical trials of rare diseases like the ataxias:

  • The necessity of partnerships between different sectors
  • The need for advancements in science and clinical trial design
  • The need for a multinational platform

The emphasis on a multinational platform and partnerships between clinicians, academic scientists and industry is echoed in the remaining talks in the afternoon. Speakers in these sessions come from research groups from across the globe which have both clinical and basic research focuses.

In the session on mechanisms of disease, attendees will hear about recent advances in understanding how genetic mutations disrupt cellular pathways and cause ataxia. Talks will focus on recently identified factors that contribute to age-related and cell type-specific degeneration with emphasis on neurons, glia, and muscle. Speakers will also share research on understanding the specific mechanisms by which the disease-associated proteins in ARSACS and RNA levels in Friedreich’s ataxia are lowered.  Understanding the factors that govern degeneration, the specific impact of different cell types, and the precise consequences of disease-associated mutations can help to identify novel treatments and new diagnostic tools.

At the same time as the disease mechanisms breakout session, there will be a workshop on imaging techniques with a specific focus on neuroimaging. The primary objectives of this workshop are to provide an appropriate knowledge base to facilitate trial design decisions for the use of imaging studies in research and clinical trials. An overview of the common acquisition approaches and outcome measures for MRIs in ataxias will be covered. There will also be discussions on understanding the different uses for MRIs in diagnosis, clinical trials and as a tool to help improve our understanding of ataxia. The workshop will provide time for scientists to ask questions and discuss the topics covered which in turn will facilitate collaborations between both academic and industry scientists with experts in the field of neuroimaging for ataxias. Workshops such as this will enable progress toward the three main goals set out for the ataxia research field during the conference keynote at the start of today’s session.

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