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TERMINÉ
RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research (RD-CONNECT)
Date du début: 1 nov. 2012, Date de fin: 31 oct. 2018,
Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Con ...
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TERMINÉ
Support for international rare disease research to serve the IRDiRC objectives (SUPPORT-IRDiRC)
Date du début: 1 oct. 2012, Date de fin: 30 sept. 2018,
Research into rare diseases (RD) is badly needed as many patients still lack a proper diagnosis and most of them are left without an effective treatment. In addition, research in this area is very relevant from a scientific point of view as RD are model diseases for more common disorders and are strong drivers of innovation. However, research in this field faces some specific constraints stemming ...
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