Project

Identification of new genes for recessive forms of the Ehlers-Danlos syndrome (EDS)

Duration
01 October 2009 → 30 September 2011
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
human genetics hereditary connective tissue diseases ehlers-Danlos syndrome clinical genetics
 
Project description

Our aim is to identify new genes for recessive EDS-phenotypes by studying 2 consanguineous families with phenotypical characteristics of rare EDS-variants. More specifically, we aim to identify genetic defects through Next Generation sequencing of several candidate regions. Furthermore, we aim te delineate the role of recently discovered genes in patients with EDS-phenotypes lacking mutations in known disease causing genes.