Sophie Lee
Contact info
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Address
Vrije Universiteit Amsterdam
Center for Neurogenomics and Cognitive Research (CNCR)
Department of Complex Trait Genetics
Research Building
De Boelelaan 1100
1081 HZ Amsterdam
The Netherlands -
E-mail
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Phone
Short CV
| 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 |
Research
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.
Highlighted publications
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