Objective
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-Connect will develop a critical mass for harmonisation and provide a strong impetus for a global “trial-ready” infrastructure ready to support the IRDiRC goals for diagnostics and therapies for RD in close collaboration with the successful A/B projects. It will build on and transform the current state-of-the-art across databases, registries, biobanks, bioinformatics, and ethical considerations to develop a quality-assured and comprehensive integrated hub/platform in which complete clinical profiles are combined with -omics data and sample availability for RD research. The integrated, user-friendly RD-Connect platform, built on efficient informatics concepts already implemented in international research infrastructures for large-scale data management, will provide access to federated databases/registries, biobank catalogues, harmonised -omics profiles, and cutting-edge bioinformatics tools for data analysis. All patient data types will be linked via the generation of a unique identifier (“RD-ID”) developed jointly with the US NIH. The RD-Connect platform will be one of the primary enablers of progress in IRDiRC-funded research and will facilitate gene discovery, diagnosis and therapy development. RD-Connect has the RD field at its heart and brings together partners with a strong track record in RD research (gene discovery and development of innovative treatments), as well as committed IRDiRC funding partners and representatives of all major international RD initiatives (EU/US/AU/JP) spanning patient organisations, research and public health, to maximise impact to RD patients
Fields of science
Topic(s)
Call for proposal
FP7-HEALTH-2012-INNOVATION-1
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Funding Scheme
CP-IP - Large-scale integrating projectCoordinator
NE1 7RU Newcastle Upon Tyne
United Kingdom
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Participants (31)
08028 Barcelona
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13284 Marseille
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00161 Roma
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751 05 Uppsala
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2333 ZA Leiden
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28029 Madrid
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00185 Roma
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3810-193 Aveiro
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17177 Stockholm
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265 04 Rio Patras
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75014 Paris
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76000 Rouen
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69003 Lyon
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28029 Madrid
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Participation ended
94401 SAN MATEO CA
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8010 Graz
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F-75205 / 13 Paris
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2080 MSIDA
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75014 Paris
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89081 Ulm
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8006 Zurich
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116 36 Praha 1
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20201 Washington D.C.
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6150 Murdoch Perth
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6004 East Perth
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69117 Heidelberg
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8010 Graz
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9713 GZ Groningen
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08003 Barcelona
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08034 Barcelona
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6525 XZ Nijmegen
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