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


Por: Luque, J, Mendes, I, Gomez, B, Morte, B, de Heredia, ML, Herreras, E, Corrochano, V, Bueren, J, Gallano, P, Artuch, R, Fillat, C, Perez-Jurado, LA, Montoliu, L, Carracedo, A, Millan, JM, Webb, SM, Palau, F, Lapunzina, P

Publicada: 1 may 2022 Ahead of Print: 1 feb 2022
Resumen:
CIBER (Center for Biomedical Network Research; Centro de Investigacion Biomedica 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.

Filiaciones:
Luque, J:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Mendes, I:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Gomez, B:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Morte, B:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

de Heredia, ML:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Herreras, E:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Corrochano, V:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

Bueren, J:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Inst Invest Sanitarias Fdn Jimenez Diaz IIS FJD, Ctr Invest Energet Medioambientales & Tecnol CIEM, Hematopoiet Innovat Therapies Div, Madrid, Spain

Gallano, P:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain

 Inst Recerca Hosp Santa Creu & St Pau IIB St Pau, Barcelona, Spain

 Univ Autonoma Barcelona, Barcelona, Spain

Artuch, R:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Inst Recerca St Joan de Deu, Clin Biochem Dept, Barcelona, Spain

Fillat, C:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain

 Univ Barcelona, Barcelona, Spain

Perez-Jurado, LA:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Univ Pompeu Fabra UPF, Dept Expt & Hlth Sci, Barcelona, Spain

 Hosp del Mar, Genet Serv, Barcelona, Spain

 Hosp del Mar Res Inst IMIM, Barcelona, Spain

Montoliu, L:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Natl Ctr Biotechnol CNB CSIC, Dept Mol & Cellular Biol, Madrid, Spain

Carracedo, A:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Univ Santiago de Compostela, Ctr Singular Invest Med Mol & Enfermedades Cron C, Grp Med Xenom, Santiago De Compostela, Spain

 Fdn Publ Galega Med Xenom SERGAS, IDIS, Santiago De Compostela, Spain

Millan, JM:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Hosp Univ & Politecn La Fe, Unidad Genet, Valencia, Spain

 Inst Invest Sanitaria La Fe, Biomed Mol Celular & Genom, Valencia, Spain

Webb, SM:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Hosp S Pau, Dept Med Endocrinol, IIB St Pau, Res Ctr Pituitary Dis, Barcelona, Spain

 Univ Autonoma Barcelona, Dept Med, Barcelona, Spain

Palau, F:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain

 Inst Recerca St Joan de Deu, Lab Neurogenet & Mol Med IPER, Barcelona, Spain

 Hosp Clin Barcelona, Inst Med & Dermatol, Barcelona, Spain

 Univ Barcelona, Div Pediat, Sch Med, Barcelona, Spain

Lapunzina, P:
 Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

 Hosp Univ La Paz, INGEMM Inst Genet Med & Mol, Madrid, Spain

 Inst Invest Sanitaria Hosp La Paz IdiPaz, Madrid, Spain

 ERN ITHACA, Madrid, Spain
ISSN: 00099163
Editorial
WILEY-BLACKWELL, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA, Dinamarca
Tipo de documento: Review
Volumen: 101 Número: 5-6
Páginas: 481-493
WOS Id: 000750972100001
ID de PubMed: 35060122
imagen hybrid, Green Published, Hybrid Gold, Green

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