معرفی
Ype Elgersma is a Full Professor at Erasmus University Medical Center in the Department of Clinical Genetics. His research focuses on neurodevelopmental disorders with particular emphasis on Angelman Syndrome and Neurofibromatosis Type 1. Investigations include molecular mechanisms of disease, neural circuitry impacts, and experimental therapeutics.
Current work explores the role of UBE3A isoforms in neurological function, mTOR pathway dysregulation in epilepsy models, and interdisciplinary approaches to rare disease treatment. Research employs cellular models, genetic tools, and electrophysiological techniques to understand disease mechanisms.
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