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

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 dedica...

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Autores: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, López de Heredia, Miguel, Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pía, Artuch Iriberri, Rafael, Fillat, Cristina, Pérez Jurado, Luis A., Montoliu, Lluis, Carracedo Álvarez, Ángel, Millán, José M., Webb, Susan M., Palau, Francesc, The CIBERER Network, Lapunzina, Pablo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/194221
Acceso en línea:https://hdl.handle.net/2445/194221
Access Level:acceso abierto
Palabra clave:Malalties rares
Diagnòstic
Epidemiologia
Genètica
Rare diseases
Diagnosis
Epidemiology
Genetics
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spelling CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeLuque, JuanMendes, IngridGómez, BeatrizMorte, BeatrizLópez de Heredia, MiguelHerreras, EnriqueCorrochano, VirginiaBueren, JuanGallano, PíaArtuch Iriberri, RafaelFillat, CristinaPérez Jurado, Luis A.Montoliu, LluisCarracedo Álvarez, ÁngelMillán, José M.Webb, Susan M.Palau, FrancescThe CIBERER NetworkLapunzina, PabloMalalties raresDiagnòsticEpidemiologiaGenèticaRare diseasesDiagnosisEpidemiologyGeneticsCIBER (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.John Wiley & Sons2023202320222023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion13 p.application/pdfhttps://hdl.handle.net/2445/194221Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1111/cge.14113Clinical Genetics, 2022, vol. 101, num. 5-6, p. 481-493https://doi.org/10.1111/cge.14113cc by-nc-nd (c) Luque, Juan et al., 2022http://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1942212026-05-29T05:05:01Z
dc.title.none.fl_str_mv CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
title CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
spellingShingle CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Luque, Juan
Malalties rares
Diagnòstic
Epidemiologia
Genètica
Rare diseases
Diagnosis
Epidemiology
Genetics
title_short CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
title_full CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
title_fullStr CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
title_full_unstemmed CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
title_sort CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
dc.creator.none.fl_str_mv Luque, Juan
Mendes, Ingrid
Gómez, Beatriz
Morte, Beatriz
López de Heredia, Miguel
Herreras, Enrique
Corrochano, Virginia
Bueren, Juan
Gallano, Pía
Artuch Iriberri, Rafael
Fillat, Cristina
Pérez Jurado, Luis A.
Montoliu, Lluis
Carracedo Álvarez, Ángel
Millán, José M.
Webb, Susan M.
Palau, Francesc
The CIBERER Network
Lapunzina, Pablo
author Luque, Juan
author_facet Luque, Juan
Mendes, Ingrid
Gómez, Beatriz
Morte, Beatriz
López de Heredia, Miguel
Herreras, Enrique
Corrochano, Virginia
Bueren, Juan
Gallano, Pía
Artuch Iriberri, Rafael
Fillat, Cristina
Pérez Jurado, Luis A.
Montoliu, Lluis
Carracedo Álvarez, Ángel
Millán, José M.
Webb, Susan M.
Palau, Francesc
The CIBERER Network
Lapunzina, Pablo
author_role author
author2 Mendes, Ingrid
Gómez, Beatriz
Morte, Beatriz
López de Heredia, Miguel
Herreras, Enrique
Corrochano, Virginia
Bueren, Juan
Gallano, Pía
Artuch Iriberri, Rafael
Fillat, Cristina
Pérez Jurado, Luis A.
Montoliu, Lluis
Carracedo Álvarez, Ángel
Millán, José M.
Webb, Susan M.
Palau, Francesc
The CIBERER Network
Lapunzina, Pablo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malalties rares
Diagnòstic
Epidemiologia
Genètica
Rare diseases
Diagnosis
Epidemiology
Genetics
topic Malalties rares
Diagnòstic
Epidemiologia
Genètica
Rare diseases
Diagnosis
Epidemiology
Genetics
description 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.
publishDate 2022
dc.date.none.fl_str_mv 2022
2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/194221
url https://hdl.handle.net/2445/194221
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1111/cge.14113
Clinical Genetics, 2022, vol. 101, num. 5-6, p. 481-493
https://doi.org/10.1111/cge.14113
dc.rights.none.fl_str_mv cc by-nc-nd (c) Luque, Juan et al., 2022
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc-nd (c) Luque, Juan et al., 2022
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 13 p.
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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