ESDN: An integrated research and diagnostic network for skeletal dysplasias

• Unité de recherche: PCRD EU
• Numéro de projet: 01.0258
• Titre du projet anglais: ESDN: An integrated research and diagnostic network for skeletal dysplasias

Mots-clé (Anglais)

Life Sciences; Medicine; Health; Scientific Research

Autre Numéro de projet (Anglais)

EU project number: QLRT-2000-02188

Programme de recherche (Anglais)

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

Description succincte (Anglais)

See abstract

Autres indications (Anglais)

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

Résumé des résultats (Abstract) (Anglais)

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.

Références bases de données (Anglais)

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