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Project

Identification of novel genes and pathogenic pathways for osteogenesis imperfecta and Ehlers-Danlos syndrome, paradigm collagen disorders

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.

Date:1 Jan 2014  →  31 Oct 2018
Keywords:extracellular matrix, ehlers-Danlos syndrome, collagen, connective tissue, osteogenesis imperfecta
Disciplines:Molecular and cell biology, Laboratory medicine, Medical systems biology