NWO Veni grant awarded to Marieke Meijer

Dr M.Meijer – VU – Dept. of Functional Genomics Dr M.Meijer – VU – Dept. of Functional Genomics

Towards understanding developmental disorders at a cellular level
Mutations in synaptic genes cause a broad spectrum of severe neurodevelopmental disorders, characterized by intellectual disability and epilepsy, for which insufficient treatment options exist. To develop novel therapeutic strategies, good cell models and in-depth understanding of the pathogenesis are pivotal. In this project, Marieke Meijer will analyze the consequences of pathogenic mutations in a set of presynaptic genes central to synaptic transmission: STXBP1, STX1B, SNAP-25 and VAMP2, also on a patient-own genomic background. She will use a novel method developed at the FGA in which single human neurons, generated from skin biopsies, grow on standardized micro-arrays. Her previous work shows that this cell model is very suitable to study synaptic transmission in human neurons. This approach will generate new insights into the disease mechanisms at the cellular level, which can serve as a rational for future therapy design.

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