|2023 – present||PhD candidate||Amsterdam UMC / Vrije Universiteit Amsterdam|
|2021 – 2023||MSc Brain and Cognitive Science||University of Amsterdam|
|2016 – 2021||MSci Neuroscience with Psychology||University of Aberdeen|
GRIN2B syndrome is a rare neurodevelopmental disorder resulting in severe developmental delays and treatment-resistant epilepsy. The broad clinical phenotypes of this population have hindered the identification of genotype-phenotype correlations for GRIN2B. Consequently, there remains a distinct lack of effective therapeutic strategies available for patients. To build upon recent work indicating that L-serine confers therapeutic benefit to some but not all GRIN2B patients, I will develop patient-specific, iPSC-derived model systems of GRIN2B syndrome. These model systems will be utilised to conduct n-of-1 trials to investigate underlying disease mechanisms and provide preclinical measures of therapeutic efficacy for L-serine and other drug candidates. This project thereby aims to (i) elevate our current understanding of GRIN2B pathophysiology, particularly in relation to neuron-glia interactions, and (ii) assist clinicians through provision of evidence-based treatment guidelines.
Vrije Universiteit Amsterdam
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