Elucidating the dark matter of the genome in central nervous system disorders.

We aim to assess the functional impact of non-coding variation (i.e. both ingle nucleotide polymorphisms (SNPs) and structural variants (SVs) residing in het non-protein-coding regions of the human genome) on neurodevelopment and -pathogenesis. The ultimate goal of this project is the identification of novel markers that may aid the diagnosis of central nervous system (CNS) disorders and potential therapeutic targets. Our research group has particular interest in the identification of diagnostic and therapeutic opportunities in intellectual disability (ID).