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

Fecha de publicación: 01/05/2022 Fecha Ahead of Print: 20/01/2022

Autores de IIS La Fe

José María Millán Salvador

Autor

Participantes ajenos a IIS La Fe

Luque J
Mendes I
Gómez B
Morte B
López de Heredia M
Herreras E
Corrochano V
Bueren J
Gallano P
Artuch R
Fillat C
Pérez-Jurado LA
Montoliu L
Carracedo Á
Webb SM
Palau F
CIBERER Network
Lapunzina P

Grupos

Biomedicina Molecular, Celular y Genómica

Leader

José María Millán Salvador
Unidad mixta de investigación en enfermedades raras (CIPF)

Leader

José María Millán Salvador

Abstract

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 (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.

Datos de la publicación

ISSN/ISSNe:: 0009-9163, 1399-0004
Tipo:: Article
Páginas:: 481-493
DOI:: 10.1111/cge.14113
Factor de Impacto:: 1,192 SCImago ℠
Cuartil:: Q2 SCImago ℠

Documentos

No hay documentos

Métricas

Filiaciones

Luque J:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Mendes I:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Gómez B:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Morte B:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
López de Heredia M:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Herreras E:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Corrochano V:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Bueren J:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Hematopoietic Innovative Therapies Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), Instituto de Investigaciones Sanitarias Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain
Gallano P:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Genetics Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

Institut de Recerca Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), Barcelona, Spain

Universitat Autònoma de Barcelona, Barcelona, Spain
Artuch R:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Fillat C:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain

Universitat de Barcelona, Barcelona, Spain
Pérez-Jurado LA:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain

Genetics Service, Hospital del Mar, Barcelona, Spain

Hospital del Mar Research Institute (IMIM), Barcelona, Spain
Montoliu L:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain
Carracedo Á:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Grupo de Medicina Xenómica, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Fundación Pública Galega de Medicina Xenómica (SERGAS), IDIS, Santiago de Compostela, Spain
Millán JM:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain

Instituto de Investigación. Biomedicina Molecular Celular y Genómica, Instituto Investigación Sanitaria La Fe, Valencia, Spain
Webb SM:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Hospital S Pau, Dept Medicine/Endocrinology, IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain

Departamento de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain
Palau F:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Department of Genetic and Molecular Medicine, Hospital Sant Joan de Deu, Barcelona, Spain

Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Institute of Medicine & Dermatology, Hospital Clínic, Barcelona, Spain

Division of Pediatrics, University of Barcelona School of Medicine, Barcelona, Spain

ERN-ITHACA, Madrid, Spain
CIBERER Network:: CIBERER Network
Lapunzina P:: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

INGEMM-Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain

Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), Madrid, Spain

ERN-ITHACA, Madrid, Spain

Keywords

genetics; new therapeutic approaches; novel genes; rare diseases; research network

Proyectos asociados

CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7

Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR

PI07/0558 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008

MOLECULAR MAECHANISMS OF RETINAL DEGENERATION IN HUMANS WITH RETINITIS PIGMENTOSA. ROLE OF INFLAMMATION, OXIDATIVE STRESS AND GLIAL ACTIVATION

CP09/00118 (MIGUEL SERVET) . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

RED DE BIOBANCOS (BIOBANCOS)

RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

CARACTERIZACION MOLECULAR EN PACIENTES CON SINDROME DE USHER TIPO I MEDIANTE LA APLICACION DE LAS TECNICAS DE SECUENCIACION Y CGH-ARRAY EN GENES RESPONSABLES Y GENES CANDIDATOS

FPU_AP2009-3344 . MINISTERIO DE EDUCACION, CULTURA Y DEPORTE; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010