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.
Interests
Characterization of the regulatory landscapes of NDD genes during early human brain development
Identification of putative causal (non)coding variants in patients with unsolved molecular diagnosis.
By integrating (structural) genomics, epigenomics, transcriptomics and proteomics
Functional validation of candidate genes for neurodevelopmental disorders
Partner of the Ghent University RARE-MED consortium, that aims to address missing heritability in rare disorders
Current projects
Unravelling new candidate genes associated with NDDs.
Unveiling the role of the noncoding genome in NDDs.
