Collaborative Team Science to Advance New Therapies for Epilepsy “The CURE Infantile Spasms and Epilepsy Genetics Initiatives” www.CUREepilepsy.org.

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Presentation transcript:

Collaborative Team Science to Advance New Therapies for Epilepsy “The CURE Infantile Spasms and Epilepsy Genetics Initiatives”

Why infantile spasms? Seizures are stereotypical, thus making diagnosis more clear compared to other seizure types Prognosis is particularly poor and frequently results in life-long developmental disability (need for better therapies) Atypical EEG serves as a predictive biomarker that can be used to track success of therapy Animal models are available that can be used for the early identification of new therapies Success can be measured in the short term; years vs. decades

PROGRAM GOAL To support collaborative, milestone‐driven efforts that advance the understanding of the underlying pathology of infantile spasms and lead to the development of a disease‐modifying therapy or cure for infantile spasms.

Collaborate Share Critique

EGI will create a data repository of clinical exome and genome sequences Data will be reanalyzed every 6 months for novel genetic changes New results will be communicated back to patients via their doctor Data will also be made available to advance epilepsy research Unique Partnership between CURE, Epi4K Investigators, NINDS, enrollment sites and The John and Barbara Vogelstein Family Foundation What is EGI?

EGIVision