RD-CONNECT
An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Project funded under:
FP7 HEALTH.2012.2.1.1-1-C:
"Databases, biobanks and clinical bio-informatics hub for rare diseases" Coordinator: Hanns Lochmüller
RD-Connect was launched on 1 November 2012. The first project meeting will be held in Barcelona on 25-27 January 2013 jointly with the omics research projects EURenOmics and Neuromics. A special press event to mark the formal launch of the three projects will be held at Camp Nou stadium, home of FC Barcelona, at 15:30 on 24 January.
Click here to download the invitation.
Project summary
Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data type and by disease. Individual efforts have little interoperability and almost no systematic connection of detailed clinical information with 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 and 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/patient 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.Global partner distribution
List of participants
Participant organisation name | PI | Country |
| FULL PARTNERS | ||
| University of Newcastle upon Tyne (UNEW) | Hanns Lochmüller, Kate Bushby | UK |
| Centro Nacional de Analisis Genómico (CNAG) | Ivo Gut | ES |
| Aix-Marseille University Medical School (AMU) | Christophe Béroud | FR |
| Istituto Superiore di Sanità (ISS) | Domenica Taruscio | IT |
| Uppsala University (UU) | Mats G. Hansson | SE |
| Leiden University Medical Center (LUMC) | Peter-Bram ’t Hoen | NL |
| Centro Nacional de Investigaciones Oncológicas (CNIO) | Alfonso Valencia | ES |
| Fondazione Telethon (FTELE) | Lucia Monaco | IT |
| University of Aveiro (UAVR) | Jose Luis Oliveira | PT |
| Karolinska Institutet (KI) | Jan-Eric Litton | SE |
| University of Patras (UPAT) | George P. Patrinos | EL |
| European Organisation for Rare Diseases (EURORDIS) | Monica Ensini, Yann LeCam | FR |
| Interactive Biosoftware (IBS) | André Blavier, Francis Wolinski | FR |
| Finovatis (Finovatis) | David Koubi | FR |
| Instituto de Salud Carlos III (ISCIII) | Manuel Posada | ES |
| Innolyst, Inc., Patient Crossroads (PC) | Kyle Brown | US |
| Medical University of Graz (MUG) | Kurt Zatloukal | AT |
| University Paris Diderot – Paris 7 (UPD-7) | Odile Boespflug-Tanguy | FR |
| University of Malta (UoM) | Alex Felice | MT |
| Fondation maladies rares (Fondation MR) | Nicolas Lévy | FR |
| University Hospital of Ulm (UULM) | Michael Orth | DE |
| University of Zürich (UZH) | Nenad Blau | CH |
| Charles University (CUNI) | Milan Macek | CZ |
| National Institutes of Health - Office of Rare Diseases Research (NIH-ORDR) | Steve Groft, Yaffa Rubinstein | US |
| Murdoch University (MURDOCH) | Matthew Bellgard | AU |
| Office of Population Health Genomics (OPHG) | Hugh Dawkins | AU |
| European Bioinformatics Institute (EMBL-EBI) | Paul Flicek | UK |
| ASSOCIATED PARTNERS | ||
| Orphanet (Orphanet) | Ségolène Aymé | FR |
| Association Française contre les Myopathies (AFM) | Serge Braun | FR |
| European HD Network (EHDN) | Christian Neri, Joaquim Ferreira, Jean-Marc Burgunder | EUR |
| Orphan Europe Recordati Group (Orphan Europe) | Samantha Parker | FR |
| University Medical Center Freiburg (UKL-FR) | Jan Kirschner, Leena Bruckner-Tuderman, Bernhard Zabel | DE |
| University of Göttingen (UMG-GOE) | Claudia Wiesemann | DE |
| Centro de Investigacion Biomedica En Red de Enfermedades Raras (CIBERER) | Francesc Palau | ES |
| Banco Nacional de ADN-University of Salamanca (BNADN) | Alberto Orfao | ES |
| Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) | Lluis Vives Corrons | ES |
| Telethon Network of Biobanks (TNGB) | Mirella Filocamo | IT |
| Consiglio Nazionale delle Ricerche (CNR) | Fabrizio Bianchi | IT |
| National Institute of Environmental Health (NIEH) | Veronika Karcagi | HU |
| Genzyme Belgium division (Genzyme) | Vinciane Pirard | BE |
| National Center of Neurology & Psychiatry (NCNP) | Ichizo Nishino | JP |
| Children’s National Medical Center (CNMC) | Eric Hoffman | US |
| University of Washington GeneReviews (GeneReviews) | Roberta Pagon | US |
| Glaxo SmithKline (GSK) | Fabrizia Bignami | UK |
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