Rare disease registries and biobanks: A way forward
DOI:
https://doi.org/10.3989/arbor.2018.789n3011Keywords:
Registry, biobank, rare disease, harmonization, interoperability, biobankingAbstract
In recent years, rare disease (RD) registries and biobanks have arisen as key tools for research into this group of pathologies. This paper reviews the concept of registries and their value in the RD field, providing an overview of RD registries at a national and international level. Challenges and opportunities of the registries are also dealt with. Similarly, biobanks are presented as structures created to manage biological samples for their use in research. Ethical, legal and social issues related to the activity of biobanks and technical issues associated with harmonization, standardization and quality control of samples and related information are addressed. An overview of biobanks is offered, emphasizing their importance in the RD field and the need for collaboration with RD registries.
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