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Jillian McKee, MD, PhD

2024 Susan S. Spencer MD Clinical Research Training Scholarship in Epilepsy

 

Title/Institution: Epilepsy Neurogenetics Fellow, Children’s Hospital of Philadelphia

Project Title: “Deep phenotyping and biomarker discovery for clinical trial readiness in SYNGAP1-related disorders”

Project Summary: Certain variants in the SYNGAP1 gene are associated with a spectrum of neurodevelopmental disorders, including generalized epilepsy, autism spectrum disorder, and intellectual disability. SYNGAP1 is also one of the most common genetic epilepsies. However, the impact specific variants in this gene is not clear, nor do we fully understand whether they may be related to how people respond to anti-seizure medication (ASM). 

Dr. McKee’s project research different disease trajectories and biomarkers that are linked to severity. Better knowledge of specific variants and how these differences are linked to medication response, biomarkers, and overall outcomes will help us better understand this complex disorder, leading to better care and treatments for patients.