The Functional Genomics Lab is interested in understanding the genetic mechanisms underlying neurodevelopmental disorders (NDDs). 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 our lab we have two main research themes in which 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.