NWO has awarded Dr. Marieke Meijer (FGA) with a Veni grant of 250.000 euro to conduct her research on synaptic dysfunction in neurodevelopmental disorders
Neurobiologist Marieke Meijer studies how information is transmitted between neurons at connections called synapses (synaptic transmission). 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. Her aim is to bridge basic research and the clinic and provide new insights into the disease mechanisms at the cellular level.
Meijer: ‘I will use a novel method we developed at the FGA in which single human neurons, generated from skin biopsies, grow on standardized micro-arrays. We recently established that this cell model is very suitable to study synaptic transmission in human neurons. This approach is unique in that it allows us to control and measure the activity of single neurons and thereby obtain much more detailed information on the ability of their synapses to transmit information. This will inform us why the synapses of these specific patients do not function properly, which can serve as a rational for future therapy design’.
