Neurodevelopmental disorders (NDDs) are a heterogenous group of early onset disorders affecting central nervous system (CNS) development that affect approximately 2-5% of children worldwide. The clinical and genetic heterogeneity of NDDs, make it challenging to find a molecular diagnosis for individual cases. Although recent technological improvements have led to a significant increase in diagnostic yield and identification of several novel NDD associated genes, many associated genes have yet to be discovered and, in addition, the noncoding part of the genome has not yet been addressed.

Therefore, in this project we are trying to identify and characterize new candidate genes associated with NDDs on the one hand and trying to unravel regulatory elements that are crucial during neurodevelopment on the other hand.

To this end, we make use of a wide range of model systems such as 2D and 3D in vitro models, model organisms such as Drosophila melanogaster (fruit fly) and Danio rerio (zebrafish). We aim to characterize the function of (novel) NDD genes and to identify and validate important regulatory elements of NDD genes by using a multi-omics strategy consisting of a combination of functional genomics, transcriptomics and proteomics in the above mentioned model systems.