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An integrated research and diagnostic network for skeletal dysplasias

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Online diagnosis and treatment for skeletal dysplasia

A European project, ESDN has developed an on-line case manager system for patients with skeletal dysplasia.

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Skeletal dysplasia is a generic term for a range of over 200 conditions that involve the development of bony tissue. The phenotypes range from very mild symptoms to severe and lethal types and include the conditions achondroplasia and neurofibromatosis. The challenge for the European Skeletal Dysplasia Network (ESDN) was to devise a system whereby medical professionals could pool data from research and details of patients' cases. An online consultation and feedback forum could then be created with the overall aim of case characterisation, diagnosis and relevant treatment, if appropriate. The system was developed by Certus Technologies Associates Ltd. Features include secure on-line case detail entry and a discussion system that allows groups of experts to contribute to the review of a case. An important implication is that all European citizens would have equal access to diagnosis and treatment regardless of their geographical status. Moreover, input of data on such a wide scale with feedback means that there could be external quality assessment of laboratory test procedures. Given the range of occurrence of these disorders, a pan-European approach would enable the results of multi-disciplinary research to be translated into improved refined clinical practice. The system can be accessed at http://www.ESDN.org where comprehensive details of centres and their specialities in terms of diseases and genes screened are given. Practical issues such as submission of radiographs and procedure for referral of a case are detailed. There is also a page for newsletters and the status quo on latest research. Although this particular project dealt with aspects of skeletal dysplasia only, the system may be applied to any group of disorders that warrant online medical analysis. Elements of the system have been incorporated by the Directorate General for Health and Consumer Affairs in several other EU projects.

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