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CCMT Seminar Series - April 7, 2022
The Raymond G. Perelman Center for Cellular and Molecular Therapeutics presents a Lecture Series:
Mouse Models, Biomarkers, and Human Translation for the Early Onset Epilepsies
Eric Marsh, MD, PhD
Associate Professor of Neurology
Children's Hospital of Philadelphia
Description of Research:
Advancements in sequencing technologies has lead to a revolution about how the pediatric epilepsy community thinks about early onset severe epilepsies. Numerous genes have been linked to these conditions resulting in a surge of interest in the development of precision therapies for these conditions. As most of these conditions have severe neurodevelopmental disabilities there is a lack of defined outcome measures and a need to develop measures that are translatable from mouse to humans. Work in the lab is investigating the underlying mechanisms to generate seizures in the developing brain, uncovering biomarkers that are translatable to children and studying the natural history and outcome measures in these populations. Together this work will contribute to the development of precision therapies for these devastating conditions.
Naiara Aquizu, PhD
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