Project

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

Duration
01 January 2016 → 31 December 2017
Funding
Funding by bilateral agreement (private and foundations)
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other basic sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other clinical sciences
    • Other health sciences
    • Nursing
    • Other paramedical sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other translational sciences
    • Other medical and health sciences
Keywords
the human genome single nucleotide polymorphisms structural variants
 
Project description

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).