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Webinar

Expanding rare disease horizons: Developing a diagnostic algorithm for episodic ataxias

Upcoming
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Jun 9, 2026
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9:00 AM (GMT+0)
+1 other
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You will learn

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How specific variables can assist in the differential diagnosis of EA1 vs. EA2

Such as attack duration, triggers, interictal symptoms and more
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How statistical analyses of published cases can potentially advance rare disease research

Using data from documented cases to identify symptom patterns
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Why you need reliable, comprehensive data curated from real-world cases

Data prepared by human experts accelerates vetting of variants and published studies for systematic literature reviews

About this webinar

By definition, rare diseases make it hard to assemble large cohorts of affected individuals for research. Couple that with a lack of access to genetic testing, and you’re left with healthcare professionals who must work with incomplete information, relying almost solely on observed symptoms that may be indistinct. Without clear, structured frameworks to guide healthcare decisions, how can we provide individuals in resource-limited settings with the best possible care?

In our webinar, Claudio de Gusmao will explore how comprehensively curated data on validated real-world cases can be used to develop an algorithm to manage rare diseases, using KCNA1 mutation-driven episodic ataxia type 1 (EA1) and CACNA1A mutation-driven episodic ataxia type 2 as models.

Speakers

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