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An integrated research and diagnostic network for skeletal dysplasias

Objective

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.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

UNIVERSITY OF MANCHESTER
Address
Hathersage Road, St Mary's Hospital
M13 0JH Manchester
United Kingdom

Participants (6)

CENTRE HOSPITALIER UNIVERSITAIRE VAUDOIS
Switzerland
Address
Rue Du Bugnon 46
1011 Lausanne
GENT UNIVERSITY
Belgium
Address
De Pintelaan 185 Uz
9000 Gent
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
Address
Rue De Sèvres 149
75743 Paris
JOHANNES GUTENBERG UNIVERSITAET MAINZ
Germany
Address
Langenbeckstrasse 1
55101 Mainz
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
Address
Claremont Place 19-20
NE2 4AA Newcastle - Upon Tyne
UNIVERSITY OF OULU
Finland
Address
Kajaanintie 52 A
90114 Oulu