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Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER

  • Yaffa R. Rubinstein
  • Manuel Posada de la Paz
  • Marina Mora
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)

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.

Keywords

Biospecimens Biological samples Data sharing GUID Biobank Registry 

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Yaffa R. Rubinstein
    • 1
  • Manuel Posada de la Paz
    • 2
  • Marina Mora
    • 3
  1. 1.National Information Center of Health Services Research & Health Care Technology, National Library of Medicine/National Institute of HealthBethesdaUSA
  2. 2.RDR and CIBERERInstituto de Salud Carlos IIIMadridSpain
  3. 3.Neuromuscular and Neuroimmunology UnitC. Besta Neurological InstituteMilanItaly

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