Specialization
Focus of research
My lab studies the role of synaptic genes in health and disease. We focus specifically on genes that regulate neurotransmitter release, a key determinant of information processing in the brain. Defects in these genes are associated with SNAREopathies, a special class of brain disorders, which include epilepsy and neurodevelopmental disorders such as autism spectrum disorder, intellectual disability, and schizophrenia. For several years we have been studying cellular phenotypes of these genes in mouse models, using single-cell patch-clamp electrophysiology, to assess synaptic function with high resolution. Recently, we have been using human stem-cell derived neurons to employ the same techniques to measure synaptic (dis)function in nerve cells of patients. To speed up this type of analyses, we are developing brain-on-chip approaches in collaboration with Twente University. In our research we closely collaborate with clinical geneticists, paediatricians, and medical statisticians to link genetic defects, to cellular phenotypes and behaviour in the same patients. With this approach we aim at contributing to initiatives towards personalized medicine.