An integrated research and diagnostic network for skeletal dysplasias

Project Information

ESDN

Grant agreement ID: QLG1-CT-2001-02188

Project closed

Start date 1 January 2002

End date 31 December 2005

Funded under

• Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002

Total cost € 3 879 801,00

EU contribution € 2 357 365,00

Coordinated by

UNIVERSITY OF MANCHESTER
United Kingdom

Deliverables

A collection of clinical and radiographic information on both known, unknown and molecularly confirmed cases on skeletal Dysplasia

During the course of the project we have collected the clinical and radiographic details of over 500 patients with skeletal dysplasia. This is the most comprehensive electronic collection in Europe. Furthermore, many of these cases have been molecularly confirmed. Although these data are currently available for study, there is limited utility of the archive as it stands. To fully exploit this resource we are currently devising a way to produce an archive. The development of a comprehensive archive would allow the better classification of these disorders and the recognition of new entities. It would also provide a unique source of data for teaching and the development of e-learning resources. Furthermore, it will also promote the long term goal of collating data from human clinical studies and those data derived from model systems to better understand the pathobiology of skeletal disorders. Although we will develop this over the coming year it is hoped that funds will be available via DG SANCO.

Provision of a secure on-line clinical diagnostic review of patients with skeletal dysplasia

In collaboration with Certus Technologies Inc we developed a case manager system. This is a secure on-line submission and discussion system that allows a group of geographically disparate experts to work together in silico. It also allows clinicians from anywhere in the world to submit patients cases for expert clinical review. Although initially developed for ESDN and skeletal dysplasias this system can be applied to any medical (and non-medical) subject that requires on-line submissions, discussion and tracking of samples and results. Indeed, the use of such a system has been incorporated into several recent bids to DG SANCO to established Networks of Centres of Excellence in Rare Diseases.

Case managment and tracking system

In collaboration with Certus Technologies Inc we developed a case manager system. This is a secure on-line submission and discussion system that allows a group of geographically disparate experts to work together in silico. It also allows clinicians from anywhere in the world to submit patients cases for expert clinical review. Although initially developed for ESDN and skeletal dysplasias this system can be applied to any medical (and non-medical) subject that requires on-line submissions, discussion and tracking of samples and results. Indeed, the use of such a system has been incorporated into several recent bids to DG SANCO to established Networks of Centres of Excellence in Rare Diseases.

Provision of a DNA diagnostic service for skeletal dysplasias

We have developed a broad panel of genetic tests for skeletal dysplasias. This is the largest comprehensive set of molecular tests in the world for skeletal diseases and continues to be used by clinicians from around the world. During the course of the project testing was provided free (through the EU funding), however testing is now charged for, which will allow long term sustainability. In total ESDN partners provide DNA testing of 23 genes which can cause 32 different skeletal diseases.