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European Journal of Human Genetics - The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

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European Journal of Human Genetics - The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

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EURORDIS participa en el artículo sobre biobancos para las enfermedades raras. Disponible con acceso libre

Figure 1.
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Scheme illustrating interactions of EBB with European organisations and networks. Coordination of RD-Connect is lead by Hanns Lochmüller, who has also been the coordinator of TREAT-NMD; coordinator of the Telethon Network of Genetic Biobanks is Mirella Filocamo; coordinator of BBMRI during the preparatory phase was Kurt Zatloukal, now BBMRI-ERIC has a general director which is Jan-Eric Litton; EURORDIS is coordinated by a Board of Directors composed of elected RD patient organization representatives from countries around Europe (www.eurordis.org); IRDiRC is governed by an executive committee, three scientific committees and a number of working groups (www.irdirc.org).
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European Journal of Human Genetics advance online publication 24 December 2014; doi: 10.1038/ejhg.2014.272

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Marina Mora1, Corrado Angelini2,3, Fabrizia Bignami4, Anne-Mary Bodin5, Marco Crimi6, Jeanne- Hélène Di Donato7, Alex Felice8, Cécile Jaeger9, Veronika Karcagi10, Yann LeCam5, Stephen Lynn11, Marija Meznaric12, Maurizio Moggio13, Lucia Monaco6, Luisa Politano14, Manuel Posada de la Paz15, Safaa Saker16, Peter Schneiderat17, Monica Ensini11, Barbara Garavaglia18, David Gurwitz19, Diana Johnson20, Francesco Muntoni20, Jack Puymirat21, Mojgan Reza11, Thomas Voit22, Chiara Baldo23, Franca Dagna Bricarelli24, Stefano Goldwurm25, Giuseppe Merla26, Elena Pegoraro3, Alessandra Renieri27, Kurt Zatloukal28, Mirella Filocamo29 and Hanns Lochmüller11
  1. 1Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunolgy Unit, Fondazione Istituto Neurologico C. Besta, Milano, Italy
  2. 2IRCCS Fondazione San Camillo Hospital, Lido Venice, Italy
  3. 3Department of Neurosciences, NPSRR University of Padova, Padova, Italy
  4. 4GlaxoSmithKline, London, UK
  5. 5EURORDIS, European Organisation for Rare Diseases, Paris, France
  6. 6Fondazione Telethon, Milan, Italy
  7. 73 C-R, Castelginest, France
  8. 8Laboratory of Molecular Genetics and Malta BioBank, University of Malta, and Thalassaemia Clinic, Mater Dei Hospital, Msida, Malta
  9. 9Hôpital Foch, Suresnes, France
  10. 10Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary
  11. 11MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
  12. 12Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
  13. 13Neuromuscular Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy
  14. 14Division of Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy
  15. 15Manuel Posada de la Paz, Institute of Rare Diseases Research, IIER, ISCIII and Spain RDR & CIBERER, Madrid, Spain
  16. 16GENETHON, DNA and Cell Bank, Evry, France
  17. 17Muscle Tissue Culture Collection, Friedrich-Baur-Institute, Neurological Department, Ludwig-Maximilians-University of Munich, Munich, Germany
  18. 18Molecular Neurogenetics Unit, Fondazione Istituto Neurologico C. Besta, Milano, Italy
  19. 19Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
  20. 20Dubowitz Neuromuscular Centre, MRC Neuromuscular Centre at UCL Institute of Child Health, London, UK
  21. 21Department of Human Genetics, Centre Hospitalier Universitaire de Quebec, Quebec City, Quebec, Canada
  22. 22Inserm U974—Institute of Myology, University Pierre and Marie Curie Paris 6, Paris, France
  23. 23Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
  24. 24Dipartimento Ligure di Genetica, E.O. Ospedali Galliera, Genova, Italy
  25. 25Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy
  26. 26Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
  27. 27Division of Medical Genetics, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy
  28. 28Institute of Pathology, Medical University of Graz, Graz, Austria
  29. 29Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy
Correspondence: Dr M Mora, Muscle Cell Biology Lab, Fondazione Istituto Neurologico ‘C. Besta’ Bicocca Laboratories, Via Temolo 4, 20126 Milano, Italy. Tel: +39 022394632; Fax: +39 022394619; E-mail:mmora@istituto-besta.it; Professor H Lochmüller, Chair of Experimental Myology, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne NE1 3BZ, UK. Tel: +44 191 2418602; Fax: +44 191 2418770; E-mail: hanns.lochmuller@ncl.ac.uk
Received 11 August 2014; Revised 15 October 2014; Accepted 10 November 2014
Advance online publication 24 December 2014


The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003–2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and ‘omics’ data, thus challenging the fragmentation of international cooperation on the field.


The Organisation for Economic Co-Operation and Development (OECD) defines a biobank as ‘A collection of biological material and the associated data and information stored in an organised system, for a population or a large subset of a population’.1 The collection of biological material and data for research and diagnosis has a long history in educational and medical institutions. In the past, biorepositories tended to be inconspicuous—the responsibility of individual research groups or institutions, and biospecimens, were rarely shared with other laboratories. With recent technological advances, biorepositories are being opened up for new uses (when permitted by national regulations), and new biorepositories are being established as part of funded, but time-limited, research projects, whereas information technology now enables the systematic linkage and tracking of samples and data, and has provided tools for access and analysis across vast sample sets and data sets.
In the field of rare diseases (RDs) the number of available biospecimens is, in general, very limited. As a direct consequence of disease rarity, clinical trials are difficult to perform and so a limited number of treatments have been developed, whereas disease prognosis and natural history are poorly known, and patients with RDs do not receive the care and medical attention available to people with common diseases. Sharing material and data on RDs is essential for identifying disease-causing genes, studying pathological mechanisms, and developing treatments.
In order to improve the accessibility of biospecimens and associated data on RDs, the EuroBioBank (EBB) network, involving 16 partners from eight European countries (Belgium, France, Germany, Hungary, Italy, Malta, Slovenia, and Spain), was established in 2001. The EBB obtained funding from the European Commission in 2002 (5th framework programme; EuroBioBank project QLRI-CT-2002-02769) and started work in 2003.
This report describes the development of the EBB network over the past decade, its achievements, and the major challenges it has already faced and expects to face in the future.
European Journal of Human Genetics - The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

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