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
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