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Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

Lookup NU author(s): Rachel ThompsonORCiD, Professor Hanns Lochmuller


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© 2016 Informa UK Limited, trading as Taylor & Francis Group. Introduction: There are currently several strategies developed to facilitate access and data sharing in the rare disease field. These strategies have paid special attention to the importance of rare disease patient registries and biobanks, as they are essential tools for surveillance and the provision of biosamples and phenotypic and genetic data for research worldwide. However, they are usually fragmented by disease, data model and country. Moreover, these resources have restricted access in order to protect privacy of patient data. Areas covered: This article is an overview of existing initiatives that facilitate access to rare disease patient registries and biobanks, future challenges of accessing data/biosamples and the major barriers to achieve interoperability and worldwide sharing. Expert opinion: RD patient registries and biobanks play an important role in the discovery of either new rare diseases or new phenotype-genotype correlations. However, there is still little access to data and important limitations regarding interoperability between these resources. The improvement of access and data sharing among patient registries and biobanks worldwide, together with the establishment of harmonized regulatory criteria, might enhance knowledge on rare diseases and the discovery of new diagnostic and therapeutic procedures.

Publication metadata

Author(s): Lopez E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmuller H, Alonso V, De La Paz MP

Publication type: Review

Publication status: Published

Journal: Expert Opinion on Orphan Drugs

Year: 2016

Volume: 4

Issue: 7

Pages: 729-739

Online publication date: 09/05/2016

Acceptance date: 03/05/2016

ISSN (print): 2167-8707

Publisher: Taylor and Francis Ltd


DOI: 10.1080/21678707.2016.1182908