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<p>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.</p>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-collaborative01585nas a2200505   4500008004100000245010600041210007100147260001600218300000800234490000700242100002700249700001900276700002000295700002800315700002900343700002700372700002800399700002500427700002000452700001700472700001900489700001900508700002000527700002100547700002900568700002600597700002700623700002200650700002700672700001800699700002200717700001500739700001800754700002100772700001900793700002100812700001800833700001800851700002400869700002200893700002100915710003200936710002400968856008700992       2021                        eng d00aSchuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review0 aSchuurs–Hoeijmakers Syndrome PACS1 Neurodevelopmental Disorder S  cJan-05-2021  a7380 v121 aTenorio-Castaño, Jair1 aMorte, Beatriz1 aNevado, Julián1 aMartínez-Glez, Víctor1 aSantos-Simarro, Fernando1 aGarcía-Miñaur, Sixto1 aPalomares-Bralo, María1 aPacio-Míguez, Marta1 aGómez, Beatriz1 aArias, Pedro1 aAlcochea, Alba1 aCarrión, Juan1 aArias, Patricia1 aAlmoguera, Berta1 aLópez-Grondona, Fermina1 aLorda-Sanchez, Isabel1 aGalán-Gómez, Enrique1 aValenzuela, Irene1 aPerez, María, Méndez1 aCuscó, Ivón1 aBarros, Francisco1 aPié, Juan1 aRamos, Sergio1 aRamos, Feliciano1 aKuechler, Alma1 aTizzano, Eduardo1 aAyuso, Carmen1 aKaiser, Frank1 aPérez-Jurado, Luis1 aCarracedo, Ángel1 aLapunzina, Pablo1 aThe ENoD-CIBERER Consortium1 aThe SIDE Consortium  uhttps://www.mdpi.com/2073-4425/12/5/738https://www.mdpi.com/2073-4425/12/5/738/pdf