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

Ziel

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

Wissenschaftliches Gebiet (EuroSciVoc)

CORDIS klassifiziert Projekte mit EuroSciVoc, einer mehrsprachigen Taxonomie der Wissenschaftsbereiche, durch einen halbautomatischen Prozess, der auf Verfahren der Verarbeitung natürlicher Sprache beruht. Siehe: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.

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Programm/Programme

Thema/Themen

Aufforderung zur Vorschlagseinreichung

FP7-HEALTH-2012-INNOVATION-1
Andere Projekte für diesen Aufruf anzeigen

Finanzierungsplan

CP-IP - Large-scale integrating project

Koordinator

UNIVERSITY OF NEWCASTLE UPON TYNE
EU-Beitrag
€ 1 792 012,00
Adresse
KINGS GATE
NE1 7RU Newcastle Upon Tyne
Vereinigtes Königreich

Auf der Karte ansehen
Region
North East (England) Northumberland and Tyne and Wear Tyneside
Aktivitätstyp
Higher or Secondary Education Establishments
Links
Gesamtkosten
Keine Daten

Beteiligte (31)

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Letzte Aktualisierung: 16 Februar 2022

Mein Booklet

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

European Union, 2025