ESDN: An integrated research and diagnostic network for skeletal dysplasias

• Research unit: EU RFP
• Project number: 01.0258

Key words (English)

Life Sciences; Medicine; Health; Scientific Research

Alternative project number (English)

EU project number: QLRT-2000-02188

Research programs (English)

EU-programme: 5. Frame Research Programme - 1.1.8 Generic R&D activities

Short description (English)

See abstract

Further information (English)

Full name of research-institution/enterprise:
Centre Hopitalier Universitaire Vaudois (CHUV)
Division de Pédiatrie Moleculaire
Service de Pédiatrie

Abstract (English)

Skeletal dysplasias are an extremely complex group of disorders that affect the development of the osseous skeleton. There are over 200 well-characterised phenotypes, which range in severity from mild to severe and lethal forms. Our combined research and demonstration project will establish an integrated research and diagnostic network for skeletal dysplasias [European Skeletal Dysplasia Network (ESDN)].

This multidisciplinary approach will allow us to study comprehensively the molecular genetics and cell-matrix pathology of these diseases. In addition we will demonstrate the viability of molecular diagnosis for skeletal dysplasias by transferring research results into clinical practice. ESDN will improve equity of geographic access to molecular diagnosis for EU citizens and establish laboratory proficiency testing through external quality assessment. Overall, this project will provide new understanding of the pathophysiology of these and more common diseases and allow the development of a service delivery model for the molecular diagnosis of rare genetic diseases.

References in databases (English)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 01.0258