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From Bedside to Bench
From Bedside to Bench—Insights from Clinical Studies for Dysferlin Research
The typical paradigm is that new technologies in medicine transition from the laboratory (Bench) through several steps towards eventual use to treat patients (Bedside). But clinical and genetic studies have a lot to teach us about dysferlinopathy and can inform research projects looking for new treatments. In this webinar, we highlight some of the findings of recent clinical studies, in particular the Clinical Outcome Study in Dysferlinopathy (COS), as well as large-scale sequencing initiatives that document the spectrum of mutations of the DYSF gene and carry implications about the role of the dysferlin protein in muscle biology.

Presentations

Clinical background on dysferlinopathy - Ursula Moore, Newcastle University

COS - Implications for Clinical Trial design and disease management - Meredith James, Newcastle University

DYSF Mutation spectrum and variant pathomechanisms - Laura Rufibach, Jain Foundation

Development of a therapeutic discovery platform for Dysferlinopathy patients harboring missense mutations - Mohan Viswanathan, MIT

Availability of clinical samples and data from COS – Heather Hilsden, Newcastle University

Dec 15, 2022 11:00 AM in Eastern Time (US and Canada)

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