{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:16:09Z","timestamp":1790694969185,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"5-6","license":[{"start":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T00:00:00Z","timestamp":1643932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    CIBER (Center for Biomedical Network Research;\n                    <jats:italic>Centro de Investigaci\u00f3n Biom\u00e9dica En Red<\/jats:italic>\n                    ) 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\u2010prevalence 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\u2010year 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.\n                  <\/jats:p>","DOI":"10.1111\/cge.14113","type":"journal-article","created":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T23:48:41Z","timestamp":1642722521000},"page":"481-493","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<scp>CIBERER<\/scp>\n                    : Spanish national network for research on rare diseases: A highly productive collaborative initiative"],"prefix":"10.1111","volume":"101","author":[{"given":"Juan","family":"Luque","sequence":"first","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Mendes","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Morte","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"L\u00f3pez de Heredia","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare 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Sanitarias Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS\u2010FJD)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00eda","family":"Gallano","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Genetics Department Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Institut de Recerca Hospital de la Santa Creu i Sant Pau (IIB Sant Pau)  Barcelona Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Clinical Biochemistry Department Institut de Recerca Sant Joan de D\u00e9u  Barcelona 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lluis","family":"Montoliu","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngel","family":"Carracedo","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Grupo de Medicina Xen\u00f3mica, Centro Singular de Investigaci\u00f3n en Medicina Molecular y Enfermedades Cr\u00f3nicas (CIMUS) Universidade de Santiago de Compostela  Santiago de Compostela Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica (SERGAS) IDIS  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-9129","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Unidad de Gen\u00e9tica Hospital Universitario y Polit\u00e9cnico La Fe  Valencia Spain"},{"name":"Biomedicina Molecular Celular y Gen\u00f3mica Instituto Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Webb","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"},{"name":"Hospital S Pau, Dept Medicine\/Endocrinology IIB\u2010Sant Pau, Research Center for Pituitary Diseases  Barcelona Spain"},{"name":"Departamento de Medicina Universitat 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