Abstract
Well-annotated and properly preserved specimens are crucial both for diagnostic purposes and for use in basic and pre-clinical research, and are especially important for rare disease (RD) studies. Several consortia have been established in the recent years in order to facilitate research and to maximise access to rare biological samples and data stored in rare disease biobanks and registries, among them the EuroBioBank network and the Spain National Rare Disease Registry (RDR) and Biobank (BioNER).
EuroBioBank, established in 2001, was the first network of RD biobanks to operate in Europe as a service distributing human DNA, cells, and tissue to the scientific community conducting research on rare diseases.
The Spanish RDR and BioNER were created for facilitating rare disease research and health-related matters. The coordination of these two bodies represents an example of great scientific value as biological samples donated by patients at BioNER are linked to clinical information collected in the RDR.
Rare disease biobanks and registries will need for the future to increase their effort to improve interconnection so to enable investigators to better locate samples and associated data, while protecting security of the data and privacy of the participants and adhering to international ethical and legal requirements.
References
Bellgarda MI, Sleemanc MW, Guerrerod FD, FD FS et al (2014) Rare disease research roadmap: navigating the bioinformatics and translational challenges for improved patient health outcomes. Health Policy Technol 3:325–335
Biobanco Nacional de Enfermedades Raras, BioNER. http://bioner.isciii.es/home/
Biorepositories and Biospecimen Research Branch, BBRB. https://biospecimens.cancer.gov/default.asp
EuroBioBank. www.eurobiobank.org
Forrest CB, Bartek RJ, Rubinstein YR, Groft SC (2011) The case for a global rare-diseases registry. Lancet 377(9771):1057–1059
Groft SC, Rubinstein YR (2013) New and evolving rare diseases research programs at the National Institutes of Health. Public Health Genomics 16:259–267
Human Phenotype Ontology, HPO. http://human-phenotype-ontology.github.io/about.html
International Rare Disease Research Consortium, IRDIRC. http://www.irdirc.org/
International Society for Biological and Environmental Repositories, ISBER. http://www.isber.org/
Karimi-Busheri F, Rasouli A (2015) Integration, networking and global biobanking in the age of new biology. Adv Exp Med Biol 864:1–9
Laboratory Accreditation Program – College of American Pathologists. www.cap.org/web/home/lab/accreditation/laboratory-accreditation-program
Mascalzoni D, Dove ES, Rubinstein YR, Dawkins HJS et al (2015) International charter of principles for sharing bio-specimens and data. Eur J Hum Genet 23:721–728
Monaco L, Crimi M, Wang CM (2014) The challenge for a European network of biobanks for rare diseases taken up by RD-Connect. Pathobiology 81(5–6):231–6. Review
Moore HM, Kelly AB, Jewell SD, LM MS, Clark DP (2011) Biospecimen reporting for improved study quality (BRISQ). Cancer Cytopathol 119(2):92–101
Mora M, Angelini C, Bignami F, Bodin AM et al (2015) The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet 23(9):1116–1123
National Center for Advancing Translational Sciences, NCATS. http://ncats.nih.gov/grdr
Rubinstein YR, Groft SC, Bartek R (2010) Creating a global rare disease patient registry linked to a rare diseases biorepository database: rare disease-HUB (RD-HUB). Contemp Clin Trials 31(5):394–404
Rubinstein YR, McInnes P (2015) NIH/NCATS/GRDR® common data elements: a leading force for standardized data collection. Contemp Clin Trials 20(42):78–80
Somiari SB, Somiari RI (2015) The future of biobanking: a conceptual look at how biobanks can respond to the growing human biospecimen needs of researchers. Adv Exp Med Biol 864:11–27
Thompson R, Johnston L, Taruscio D et al (2014) RD-connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med 29(Suppl 3):780–787
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Rubinstein, Y.R., Posada de la Paz, M., Mora, M. (2017). Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_7
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