CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel de; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat i Fonts, Cristina; Pérez Jurado, Luis Alberto; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo Daniel

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

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dc.contributor.author Luque, Juan
dc.contributor.author Mendes, Ingrid
dc.contributor.author Gómez, Beatriz
dc.contributor.author Morte, Beatriz
dc.contributor.author López de Heredia, Miguel de
dc.contributor.author Herreras, Enrique
dc.contributor.author Corrochano, Virginia
dc.contributor.author Bueren, Juan
dc.contributor.author Gallano, Pía
dc.contributor.author Artuch, Rafael
dc.contributor.author Fillat i Fonts, Cristina
dc.contributor.author Pérez Jurado, Luis Alberto
dc.contributor.author Montoliu, Lluis
dc.contributor.author Carracedo, Ángel
dc.contributor.author Millán, José M.
dc.contributor.author Webb, Susan M.
dc.contributor.author Palau, Francesc
dc.contributor.author CIBERER Network
dc.contributor.author Lapunzina, Pablo Daniel
dc.date.accessioned 2022-06-17T05:52:02Z
dc.date.available 2022-06-17T05:52:02Z
dc.date.issued 2022
dc.description.abstract CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research.
dc.format.mimetype application/pdf
dc.identifier.citation Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network, Lapunzina P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Clin Genet. 2022 May;101(5-6):481-93. DOI: 10.1111/cge.14113
dc.identifier.doi http://dx.doi.org/10.1111/cge.14113
dc.identifier.issn 0009-9163
dc.identifier.uri http://hdl.handle.net/10230/53514
dc.language.iso eng
dc.publisher Wiley
dc.relation.ispartof Clin Genet. 2022 May;101(5-6):481-93
dc.rights © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.keyword Genetics
dc.subject.keyword New therapeutic approaches
dc.subject.keyword Novel genes
dc.subject.keyword Rare diseases
dc.subject.keyword Research network
dc.title CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
dc.type info:eu-repo/semantics/article
dc.type.version info:eu-repo/semantics/publishedVersion

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