Project

Investigation of the molecular basis of the Ehlers-Danlos Syndrome, a genetic model for the study of joint hypermobility

Duration
01 October 2009 → 30 September 2013
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Dermatology
    • Molecular and cell biology
    • Orthopaedics
    • Dermatology
    • Orthopaedics
    • Dermatology
    • Molecular and cell biology
    • Orthopaedics
Keywords
hight throughput genome technology joint hypermobility ehlers-Danlos syndrome
 
Project description

Joint hypermobility is a prominent feature of diverse connective tissue diseases a.o. the Ehlers-Danlos syndrome. Little is known about the genetic basis of joint hypermobility and genetic heterogeneity is suggested. In this project a recently identified candidate locus for the hypermobile subtype of EDS will be analysed by next generation sequencing in order to identify the causal genetic defect. In a next step, the genome of a cohort of hypermobile EDS patients will be screened on genomic alterations by means of CGH. In a last step, variations in the proteome and the secretome of hypermobile EDS patients will be evaluated by means of proteomics based technology.