02674nas a2200337 4500008004100000022001400041245011500055210006900170260001600239520155800255100001601813700001901829700002001848700001901868700003101887700002201918700002501940700001701965700001701982700001901999700002102018700002702039700002002066700002202086700002202108700001902130700002002149700002102169710002002190856012602210 2022 eng d a1399-000400aCIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative.0 aCIBERER Spanish National Network for Research on Rare Diseases a c2022 Jan 203 a
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 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 rare diseases. 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 paper, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions towards the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to rare disease research. This article is protected by copyright. All rights reserved.
1 aLuque, Juan1 aMendes, Ingrid1 aGómez, Beatriz1 aMorte, Beatriz1 ade Heredia, Miguel, López1 aHerreras, Enrique1 aCorrochano, Virginia1 aBueren, Juan1 aGallano, Pia1 aArtuch, Rafael1 aFillat, Cristina1 aPérez-Jurado, Luis, A1 aMontoliu, Lluis1 aCarracedo, Ángel1 aMillán, José, M1 aWebb, Susan, M1 aPalau, Francesc1 aLapunzina, Pablo1 aCIBERER Network uhttp://clinbioinfosspa.es/content/ciberer-spanish-national-network-research-rare-diseases-highly-productive-collaborative