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Contenuto archiviato il 2024-06-18

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research

Obiettivo

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

Campo scientifico

Not validated

Programma(i)

Argomento(i)

Invito a presentare proposte

FP7-HEALTH-2012-INNOVATION-1
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Meccanismo di finanziamento

CP-IP - Large-scale integrating project

Coordinatore

UNIVERSITY OF NEWCASTLE UPON TYNE
Contributo UE
€ 1 792 012,00
Indirizzo
KINGS GATE
NE1 7RU Newcastle Upon Tyne
Regno Unito

Mostra sulla mappa
Regione
North East (England) Northumberland and Tyne and Wear Tyneside
Tipo di attività
Higher or Secondary Education Establishments
Contatto amministrativo
Rory Deane (Mr.)
Collegamenti
Costo totale
Nessun dato

Partecipanti (31)

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Ultimo aggiornamento: 16 Febbraio 2022

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Permalink: https://cordis.europa.eu/project/id/305444/it

European Union, 2024