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An integrated platform connecting registries,
biobanks and clinical bioinformatic
for rare disease research


Type of Action: SP1 Collaboration

Duration: 72 months

BBMRI-ERIC full partner: as of 1 April 2015

Start Date: 1 November 2012

Grant Agreement Nr: 305444


Coordinator: Hanns Lochmüller

Total requested Grant by Consortium: €11,997,111.00

Total requested Grant by BBMRI-ERIC: €100,000.00

Linked Third Parties/BBMRI-ERIC Framework Agreement: none

Benefit/tasks for BBMRI-ERIC: Set and implement quality standards for rare disease biobanks, contribution to the biomaterial sharing work, incorporate new biobanks, develop synergies among BBMRI-ERIC and RD-Connect training activities, investigate sustainability options.


Lead by University Newcastle upon Tyne

Despite examples of excellent practice, rare diseases (RD) research is still mainly fragmented by data and diseaese 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 succesful A/B projects. It will build on and transform the current state-of-the art accross 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 informaticsconcepts 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 itsheart 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.

List of Participants

University of Newcastle upon Thyne, Fundacio Parc Cientific de Barcelona, Université d’Aix Marseille, Instituto Superiore di Sanita, Uppsala Universitet, Academisch Ziekenhuis Leiden, Fundacion Centro Nacional de Investigaciones Oncologicas Carlos III, Fondazione Telethon, Universidade de Aveiro, Karolinska Institutet, University of Patras, EURORDIS, Interactive Biosoftware SARL, FINOVATIS, Institute de Salud Carlos III, INNOLYST Inc. Corporation Patientcrossroads, Medizinische Universität Graz, Université Paris Diderot – Paris 7, Universita ta Malta, Fondation maladies rares, Universität Ulm, Universität Zurich, Uiverzita Karlova V Praze, United States Department of Health and Human Services, Murdoch University, Department of Health Government of Western Australia, European Molecular Biology Laboratory, BBMRI-ERIC, Academisch Ziekenhuis Groningen, Fundacio Centre de Regulacio Genomica

The website was co-funded within ADOPT BBMRI-ERIC, a project that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 676550.
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