Research Explorer

Project

Identification of novel genes and pathogenic pathways for osteogenesis imperfecta and Ehlers-Danlos syndrome, paradigm collagen disorders
Code
01N01914
Duration
01 January 2014 → 31 October 2018
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
extracellular matrix ehlers-Danlos syndrome collagen connective tissue osteogenesis imperfecta
 
Project description
 

This project aims to identify novel genes and study underlying pathogenetic pathways of osteogenesis imperfecta and Ehlers-Danlos syndrome, two clinically and genetically heterogeneous heritable connective tissue disorders characterized by widespread manifestations of tissue fragility in skin, bone, ligaments, blood vessels and internal organs. Comprehensive study of these conditions is crucial for the understanding of fundamental aspects of extracellular matrix assembly and function.