Research Explorer

Project

Study of the pathogenic mechanisms involved in the Ehlers-Danlos syndrome
Code
01SC1211
Duration
01 March 2011 → 31 August 2014
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Cardiac and vascular medicine
    • Molecular and cell biology
    • Orthopaedics
    • Cardiac and vascular medicine
    • Orthopaedics
    • Cardiac and vascular medicine
    • Molecular and cell biology
    • Orthopaedics
Keywords
COL3A1 mouse model ehlers-Danlos syndrome
 
Project description
 

The Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by fragility of the connective tissues, mainly affecting the skin, ligaments, joints and blood vessels. This project will focus on the search for new genes underlying clinically well characterized EDS subtypes and on the development of animal models to study the pathogenic mechanisms and to evaluate therapeutic approaches.