Code
3F023809
Duration
01 October 2009 → 30 September 2013
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Promotor
Fellow
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.