TY - JOUR
T1 - CIBERER
T2 - Spanish national network for research on rare diseases: A highly productive collaborative initiative
AU - The CIBERER Network
AU - Luque, Juan
AU - Mendes, Ingrid
AU - Gómez, Beatriz
AU - Morte, Beatriz
AU - López de Heredia, Miguel
AU - Herreras, Enrique
AU - Corrochano, Virginia
AU - Bueren, Juan
AU - Gallano, Pía
AU - Artuch, Rafael
AU - Fillat, Cristina
AU - Pérez-Jurado, Luis A.
AU - Montoliu, Lluis
AU - Carracedo, Ángel
AU - Millán, José M.
AU - Webb, Susan M.
AU - Palau, Francesc
AU - Aguado, Carmen
AU - Aguado, Cristina
AU - Aguilera, Paula
AU - Albiñana, Virginia
AU - Alías, Laura
AU - Almoguera, Berta
AU - Alonso, Javier
AU - Alonso-Ferreira, Verónica
AU - Alvarez-Mora, María Isabel
AU - Antiñolo, Guillermo
AU - Arbones, María L.
AU - Arenas, Joaquín
AU - Arjona, Emi
AU - Armangue, Thais
AU - Armstrong, Judith
AU - Arnedo, María
AU - Artuch, Rafael
AU - Masó, Anna Aulinas
AU - Avila-Fernandez, Almudena
AU - Ayuso, Carmen
AU - Badell, Isabel
AU - Badenas, Celia
AU - Baeza, María L.
AU - Baiget, Montserrat
AU - Balcells, Susanna
AU - Ballesta-Martínez, María Juliana
AU - Barahona, María José
AU - Barros, Francisco
AU - Bartoccioni, Paola Chiara
AU - Pilar Bayona-Bafaluy, M.
AU - Benito Sanz, Sara
AU - Bernabéu, Carmelo
AU - Ugarteburu, Olatz
N1 - Publisher Copyright:
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
PY - 2022/5/1
Y1 - 2022/5/1
N2 - 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.
AB - 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.
KW - genetics
KW - new therapeutic approaches
KW - novel genes
KW - rare diseases
KW - research network
UR - http://www.scopus.com/inward/record.url?scp=85129996841&partnerID=8YFLogxK
U2 - 10.1111/cge.14113
DO - 10.1111/cge.14113
M3 - Review article
C2 - 35060122
AN - SCOPUS:85129996841
SN - 0009-9163
VL - 101
SP - 481
EP - 493
JO - Clinical Genetics
JF - Clinical Genetics
IS - 5-6
ER -