Addressing the missing heritability in rare disorders

01 November 2019 → 31 August 2024
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Analysis of next-generation sequence data
    • Clinical genetics and molecular diagnostics
    • Molecular diagnostics
    • Clinical genetics and molecular diagnostics
    • Epigenetics
    • Genetics
rare disorders genomics transcriptomics gene regulation
Project description

Rare diseases are defined as disorders that affect less than 1 in 2,000 individuals in the general population. However, collectively they affect more than 300 million people worldwide. It is estimated that there are approximately 7000 rare diseases of which 80% is thought to have a molecular cause. Notwithstanding that the implementation of whole exome sequencing in the clinic has rapidly increased the diagnostic yield in patients with rare disorders, the number of patients without a (molecular) diagnosis remains high. Presumably, the causal DNA defect is located outside the coding repertoire of the cell and it can be anticipated that for many of these patients, noncoding mutations or rearrangements in regulatory elements might be responsible for the observed phenotype. In this project we will hunt for the hidden variation associated with rare disorders. To this end, we will make use of (epi)genomics, transcriptomics, proteomics and state-of-the-art functional assays.