Research Explorer

Project

From variome to phenome: study of genetic defects underlying the heritable connective tissue disorder Ehlers-Danlos syndrome, and their pathogenic consequences on extracellular matrix organisation and function
Code
01D24616
Duration
01 October 2016 → 30 September 2020
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Laboratory medicine
    • Molecular and cell biology
    • Orthopaedics
    • Laboratory medicine
    • Orthopaedics
    • Laboratory medicine
    • Molecular and cell biology
    • Orthopaedics
Keywords
Ehlers-Danlos syndrome
 
Project description
 

In some patients with Ehlers Danlos syndrome (EDS), a clinical, molecular and pathogenic overlap is seen with patients suffering from inherited myopathies. This research aims to study this overlap and the biological consequences of defects in the different molecules that are associated with these disorders. In addition, we will continue the search for candidate genes for molecularly unresolved EDS phenotypes.