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

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

Call for proposal

FP7-HEALTH-2012-INNOVATION-1
See other projects for this call

Coordinator

UNIVERSITY OF NEWCASTLE UPON TYNE
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
United Kingdom

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Rory Deane (Mr.)
EU contribution
€ 1 792 012

Participants (31)

FUNDACIO PARC CIENTIFIC DE BARCELONA
Spain
EU contribution
€ 215 856,90
Address
Baldiri I Reixac 4
08028 Barcelona

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Activity type
Research Organisations
Administrative Contact
Marta Molina (Ms.)
UNIVERSITE D'AIX MARSEILLE
France
EU contribution
€ 956 116
Address
Boulevard Charles Livon 58 Le Pharo
13284 Marseille

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Céline Damon (Mrs.)
ISTITUTO SUPERIORE DI SANITA
Italy
EU contribution
€ 792 272,93
Address
Viale Regina Elena 299
00161 Roma

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Activity type
Research Organisations
Administrative Contact
Rosa Maria Martoccia (Dr.)
UPPSALA UNIVERSITET
Sweden
EU contribution
€ 659 794,88
Address
Von Kraemers Alle 4
751 05 Uppsala

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Josepine Fernow (Ms.)
ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
EU contribution
€ 838 422
Address
Albinusdreef 2
2333 ZA Leiden

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Ruud Esveld (Mr.)
FUNDACION SECTOR PUBLICO ESTATAL CENTRO NACIONAL INVESTIGACIONES ONCOLOGICAS CARLOS III

Participation ended

Spain
EU contribution
€ 407 454,28
Address
C Melchor Fernandez Almagro 3
28029 Madrid

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Activity type
Research Organisations
Administrative Contact
Lilit Manukyan (Ms.)
FONDAZIONE TELETHON ETS
Italy
EU contribution
€ 573 618,40
Address
Via Varese 16/b
00185 Roma

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Activity type
Research Organisations
Administrative Contact
Irene Mearelli (Dr.)
UNIVERSIDADE DE AVEIRO
Portugal
EU contribution
€ 474 900,31
Address
Campus Universitário De Santiago
3810-193 Aveiro

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Fernando Batista (Dr.)
KAROLINSKA INSTITUTET
Sweden
EU contribution
€ 256 548,24
Address
Nobels Vag 5
17177 Stockholm

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Agneta Häggström (Ms.)
PANEPISTIMIO PATRON
Greece
EU contribution
€ 470 550
Address
University Campus Rio Patras
265 04 Rio Patras

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
George Patrinos (Prof.)
EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION
France
EU contribution
€ 512 652
Address
Rue Didot 96
75014 Paris

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Activity type
Other
Administrative Contact
Patrice Regnier (Mr.)
INTERACTIVE BIOSOFTWARE SAS
France
EU contribution
€ 393 799,20
Address
141 Boulevard De L'yser
76000 Rouen

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Juliette Renauld (Ms.)
FINOVATIS
France
EU contribution
€ 367 504
Address
62 Rue De Bonnel
69003 Lyon

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
David Koubi (Dr.)
INSTITUTO DE SALUD CARLOS III
Spain
EU contribution
€ 382 632
Address
Monforte De Lemos 5
28029 Madrid

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Activity type
Research Organisations
Administrative Contact
Miguel Angel Cabo (Mr.)
INNOLYST INC CORPORATION PATIENTCROSSROADS

Participation ended

United States
EU contribution
€ 89 217,32
Address
Warren Road 180
94401 San Mateo Ca

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Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Kyle Brown (Mr.)
MEDIZINISCHE UNIVERSITAT GRAZ
Austria
EU contribution
€ 262 244,40
Address
Auenbruggerplatz 2
8036 Graz

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Michaela Maryhofer (Dr.)
Université Paris Diderot-Paris 7
France
EU contribution
€ 166 284
Address
Rue Thomas Mann
F-75205 / 13 Paris

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Anne Bonvalet (Ms.)
UNIVERSITA TA MALTA
Malta
EU contribution
€ 80 992
Address
Tal Oroqq
2080 Msida

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Mark Debono (Mr.)
FONDATION MALADIES RARES
France
EU contribution
€ 71 611,36
Address
Rue Didot 96
75014 Paris

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Activity type
Other
Administrative Contact
Nicolas Levy (Prof.)
UNIVERSITAET ULM
Germany
EU contribution
€ 89 400
Address
Helmholtzstrasse 16
89081 Ulm

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Frank Gleixner (Mr.)
UNIVERSITAT ZURICH
Switzerland
EU contribution
€ 89 700
Address
Ramistrasse 71
8006 Zurich

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Nenad Blau (Prof.)
UNIVERZITA KARLOVA
Czechia
EU contribution
€ 85 568,40
Address
Ovocny Trh 560/5
116 36 Praha 1

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Ivana Funkova (Mrs.)
United States Department of Health and Human Services
United States
Address
Independence Avenue S. W. 200
20201 Washington D.c.

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Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Stephen Groft (Dr.)
MURDOCH UNIVERSITY
Australia
Address
South Street 90
6150 Murdoch Perth

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
David Morrison (Prof.)
DEPARTMENT OF HEALTH GOVERNMENT OF WESTERN AUSTRALIA
Australia
Address
Royal Street 189
6004 East Perth

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Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Hughes Dawkins (Prof.)
EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany
EU contribution
€ 178 832,22
Address
Meyerhofstrasse 1
69117 Heidelberg

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Activity type
Research Organisations
Administrative Contact
Tom Ratcliff (Mr.)
BIOBANKS AND BIOMOLECULAR RESOURCES RESEARCH INFRASTRUCTURE CONSORTIUM (BBMRI-ERIC)
Austria
EU contribution
€ 98 176
Address
Neue Stiftingtalstrasse 2/b/6
8010 Graz

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Activity type
Research Organisations
Administrative Contact
Markus Pasterk (Mr.)
ACADEMISCH ZIEKENHUIS GRONINGEN
Netherlands
EU contribution
€ 138 364
Address
Hanzeplein 1
9713 GZ Groningen

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Johanna Van Apeldoorn (Ms.)
FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain
EU contribution
€ 1 286 062,30
Address
Carrer Doctor Aiguader 88
08003 Barcelona

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Activity type
Research Organisations
Administrative Contact
Pedro Corral (Mr.)
BARCELONA SUPERCOMPUTING CENTER-CENTRO NACIONAL DE SUPERCOMPUTACION
Spain
EU contribution
€ 263 525,86
Address
Calle Jordi Girona 31
08034 Barcelona

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Activity type
Research Organisations
Administrative Contact
Ezequiel Mas Del Molino (Dr.)
STICHTING RADBOUD UNIVERSITEIT
Netherlands
EU contribution
€ 3 000
Address
Houtlaan 4
6525 XZ Nijmegen

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Activity type
Higher or Secondary Education Establishments
Administrative Contact
Annelies Van Ravestijn (Dr.)