Development and Support of Platforms for Research into Rare Diseases

The technologies and ideas that underlie e-Science in providing seamless access to distributed resources is a compelling one and has been applied in many research domains. The clinical domain is one area in particular that, in principle has much to be gained from e-Science approaches. Until now however it has largely been the case that the practical realization, support and adoption of e-Science solutions in a clinical setting have been fraught by many hurdles. Not least is trust of technologies and their use in the field as opposed to demonstrator projects with non-real clinical data to prove the merit of e-Science ideas and solutions. The National e-Science Centre (NeSC– www.nesc.ac.uk) at the University of Glasgow have had a large number of clinical projects that have moved from the proof of concept demonstrators through to real systems used by real clinical researchers in real clinical trials and studies. In this paper we focus on the software systems that have been developed to support two major international post-genomic clinical research projects in the area of rare diseases: the European Union 7th Framework (EuroDSD – www.eurodsd.eu) project and the European Science Foundation (ENSAT – www.ensat.org) project. We outline the software platforms that have been rolled out and identify how the e-Science vision of secure access to clinical resources has been realized and subsequently used.

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