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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 | |
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, Cristina | |
dc.contributor.author | Pérez-Jurado, Luis A | |
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 Networ | |
dc.contributor.author | Lapunzina, Pablo | |
dc.contributor.author | Alonso, Javier | |
dc.contributor.author | Alonso-Ferreira, Veronica | |
dc.contributor.author | Martinez-Delgado, Beatriz | |
dc.date.accessioned | 2023-04-25T11:08:12Z | |
dc.date.available | 2023-04-25T11:08:12Z | |
dc.date.issued | 2022-05 | |
dc.identifier.citation | Clin Genet. 2022 May;101(5-6):481-493. | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/15884 | |
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. | es_ES |
dc.description.sponsorship | This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and Innovation. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Wiley | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Genetics | es_ES |
dc.subject | New therapeutic approaches | es_ES |
dc.subject | Novel genes | es_ES |
dc.subject | Rare diseases | es_ES |
dc.subject | Research network | es_ES |
dc.subject.mesh | Biomedical Research | es_ES |
dc.subject.mesh | Rare Diseases | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.title | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 35060122 | es_ES |
dc.format.volume | 101 | es_ES |
dc.format.number | 5-6 | es_ES |
dc.format.page | 481-493 | es_ES |
dc.identifier.doi | 10.1111/cge.14113 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1399-0004 | es_ES |
dc.relation.publisherversion | https://doi.org/10.1111/cge.14113 | es_ES |
dc.identifier.journal | Clinical genetics | es_ES |
dc.repisalud.centro | ISCIII::Instituto de Investigación de Enfermedades Raras | es_ES |
dc.repisalud.institucion | ISCIII | es_ES |
dc.rights.accessRights | open access | es_ES |
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Este ítem aparece en la(s) siguiente(s) colección(ones)
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Instituto de Investigación de Enfermedades Raras (IIER)
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IIS Aragón - Instituto de Investigación Sanitaria Aragón (Aragón)
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IMIBIC - Instituto Maimónides de Investigación Biomédica de Córdoba (Andalucía)
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INCLIVA - Instituto de Investigación Sanitaria Fundación para la Investigación del Hospital Clínico de Valencia (C. Valenciana)
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IRB LÉRIDA - Instituto de Investigación Biomédica de Lérida (Cataluña)
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IMIM - Hospital del Mar Research Institute-Barcelona (Cataluña)
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IDIBAPS - Instituto de Investigaciones Biomédicas August Pi i Sunyer (Cataluña)
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IIS BioBizkaia - Asociación Instituto de Investigación Sanitaria BioBizkaia (País Vasco)
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IIB Sant Pau - Instituto de Investigación Sant Pau (Cataluña)
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IBIMA-Plataforma BIONAND - Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (Andalucía)
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i+12 - Instituto de Investigación Hospital 12 de Octubre (Madrid)
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IBIS - Instituto de Biomedicina de Sevilla (Andalucía)
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IDIBELL - Instituto de Investigación Biomédica de Bellvitge (Cataluña)
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IdiPAZ - Instituto de Investigación Sanitaria Hospital La Paz (Madrid)
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IDIS - Instituto de Investigación Sanitaria de Santiago de Compostela (Galicia)
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IIS La Fe - Fundación para la Investigación del Hospital Universitario La Fe (C. Valenciana)
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IIS-FJD - Instituto de Investigación Sanitaria Fundación Jiménez Díaz (Madrid)
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IiSGM - Instituto de Investigación Sanitaria Gregorio Marañón (Madrid)
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IMIB - Instituto Murciano de Investigación Biosanitaria Pascual Parrilla (Murcia)
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IR-HUVH - Instituto de Investigación Hospital Universitari Vall d’Hebron (Cataluña)
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IRYCIS - Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)