CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Issue 5 (4th February 2022)

• Record Type: Journal Article
• Authors: Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat, Cristina; Pérez‐Jurado, Luis A.; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; Lapunzina, Pablo
• Other Names: Aguado Carmen investigator.; Aguado Cristina investigator.; Aguilera Paula investigator.; Albiñana Virginia investigator.; Alías Laura investigator.; Almoguera Berta investigator.; Alonso Javier investigator.; Alonso‐Ferreira Verónica investigator.; Alvarez‐Mora María Isabel investigator.; Antiñolo Guillermo investigator.; Arbones María L. investigator.; Arenas Joaquín investigator.; Arjona Emi investigator.; Armangue Thais investigator.; Armstrong Judith investigator.; Arnedo María investigator.; Artuch Rafael investigator.; Masó Anna Aulinas investigator.; Avila‐Fernandez Almudena investigator.; Ayuso Carmen investigator.; Badell Isabel investigator.; Badenas Celia investigator.; Baeza María L. investigator.; Baiget Montserrat investigator.; Balcells Susanna investigator.; Ballesta‐Martínez María Juliana investigator.; Barahona María‐José investigator.; Barros Francisco investigator.; Bartoccioni Paola Chiara investigator.; Pilar Bayona‐Bafaluy M. investigator.; Benito Sanz Sara investigator.; Bernabéu Carmelo investigator.; Bernal Sara investigator.; Blanco‐Kelly Fiona investigator.; Blázquez Alberto investigator.; Bodoy Susanna investigator.; Bogliolo Massimo investigator.; Borralleras Cristina investigator.; Borrego Salud investigator.; Botella Luisa M. investigator.; Bou de Pieri Francesc investigator.; Bovolenta Paola investigator.; Bravo‐Gil Nereida investigator.; Brea Alejandro investigator.; Bueno‐Lozano Gloria investigator.; Bueren Juan investigator.; Bustamante Ana investigator.; Caballero Teresa investigator.; Camacho‐Macorra Carlos investigator.; Cámara Yolanda investigator.; Camats‐Tarruella Núria investigator.; Campos Barros Ángel investigator.; Campuzano Victoria investigator.; Cantarero Lara investigator.; Cantó Judith investigator.; Caparrós‐Martín JoséAntonio investigator.; Cardellach Francesc investigator.; Carmona Rosario investigator.; Carracedo Ángel investigator.; Carrera Cristina investigator.; Carretero Marta investigator.; Casado Mercedes investigator.; Casado JoséAntonio investigator.; Casasnovas Carlos investigator.; Cascón Alberto investigator.; Casino Patricia investigator.; Castaño Luis investigator.; Castilla‐Vallmanya Laura investigator.; Catala Albert investigator.; Luisa Cayuela María investigator.; Cediel Rafael investigator.; Cervera Javier investigator.; Codina‐Solà Marta investigator.; Contreras Julio investigator.; Cormand Bru investigator.; Corominas Roser investigator.; Corral Javier investigator.; Corrochano Virginia investigator.; Cortés‐Rodríguez Ana investigator.; Corton Marta investigator.; Costa‐Roger Mar investigator.; Cozar Mónica investigator.; Crespo Iris investigator.; Crispi Fátima investigator.; Cruz Raquel investigator.; Cuezva JoséM. investigator.; Cuscó Ivon investigator.; Dalmau Josep investigator.; de Cima Sergio investigator.; de la Luna Susana investigator.; Luna NoemíDe investigator.; de Oyarzabal Sanz Alfonso investigator.; del Campo Miguel investigator.; del Castillo Ignacio investigator.; Del Pino Molina Lucía investigator.; Del Pozo Ángela investigator.; del Río Marcela investigator.; Delmiro Aitor investigator.; Desviat Lourdes R. investigator.; Dierssen Mara investigator.; Domínguez‐González Cristina investigator.; Domínguez‐Ruiz María investigator.; Dopazo Joaquín investigator.; Errasti Ekaitz investigator.; Escámez María José investigator.; Cristina Estañ Maria investigator.; Esteban Jesús investigator.; Estévez Raúl investigator.; Ezquieta Begoña investigator.; Fernández Luis investigator.; Fernández Almudena investigator.; Fernández‐Cancio Mónica investigator.; Fernàndez‐Castillo Noèlia investigator.; Fernández‐San Jose Patricia investigator.; Fillat Cristina investigator.; Fons Carmen investigator.; Fort Joana investigator.; Fourcade Stéphane investigator.; Fraga Mario F. investigator.; Gallano Pía investigator.; Gallardo Eduard investigator.; García Marta investigator.; García‐Arumí Elena investigator.; García‐Bravo María investigator.; García‐Cazorla Angels investigator.; García‐Consuegra Inés investigator.; Garcia‐Garcia Francesc Josep investigator.; García‐García Gema investigator.; García‐Giménez JoséLuis investigator.; Garcia‐Gimeno María Adelaida investigator.; García‐Miñaur Sixto investigator.; García‐Redondo Alberto investigator.; Teresa García‐Silva M. investigator.; García‐Villoria Judit investigator.; García Santiago Fe investigator.; Garrabou Gloria investigator.; Garrido Gema investigator.; Garrido‐Pérez Nuria investigator.; Gaztambide Sonia investigator.; Gil‐Campos Mercedes investigator.; Giroud‐Gerbetant Judith investigator.; Glover Guillermo investigator.; Gómez Beatriz investigator.; Gómez‐Puertas Paulino investigator.; Gonzalez‐Cabo Pilar investigator.; Gonzalez‐Casacuberta Ingrid investigator.; González‐del Pozo María investigator.; González‐Quereda Lidia investigator.; González‐Quintana Adrián investigator.; Gort Laura investigator.; Gougeard Nadine investigator.; Gratacos Eduard investigator.; María Grau Josep investigator.; Grinberg Daniel investigator.; Güenechea Guillermo investigator.; Guerrero Rosa investigator.; Guillén‐Navarro Encarna investigator.; Guitart‐Mampel Mariona investigator.; Gutiérrez‐Arumí Armand investigator.; Heath Karen investigator.; Heredia Miguel investigator.; Hernández‐Chico Concepción investigator.; Herreras Enrique investigator.; Hoenicka Janet investigator.; Homs Aïda investigator.; Andrés Jimenez‐Estrada Juan investigator.; Jimenez‐Mallebrera Cecilia investigator.; Jou Cristina investigator.; Luz Juarez‐Flores Diana investigator.; Lapunzina Pablo investigator.; Larcher Fernando investigator.; Lasa Adriana investigator.; Lassaletta Luis investigator.; Latorre‐Pellicer Ana investigator.; Linares Daniel investigator.; Llacer JoséLuis investigator.; Llames Sara investigator.; Lopez‐Gallardo Ester investigator.; López‐Laso Eduardo investigator.; López‐Lera Alberto investigator.; Lopez‐Lopez Daniel investigator.; López‐Sánchez Marcos investigator.; López de Heredia Miguel investigator.; López Granados Eduardo investigator.; Lorda‐Sanchez Isabel investigator.; Luisa Lozano María investigator.; Luque Juan investigator.; Madrigal Irene investigator.; Malvehy Josep investigator.; Manguán García Cristina investigator.; Mansilla Elena investigator.; Marco‐Marín Clara investigator.; Marfany Gemma investigator.; Marina Alberto investigator.; Martí Ramón investigator.; Martí Salvador investigator.; Martin Yolanda investigator.; Martín Miguel A. investigator.; Martín‐Hernandez. Elena investigator.; Martin‐Merida Inmaculada investigator.; Martínez Rosa investigator.; Martínez‐Azorín Francisco investigator.; Martinez‐Delgado Beatriz investigator.; Martínez‐Gil Núria investigator.; Martínez‐Glez Víctor M. investigator.; Martínez‐Momblán M.A. investigator.; Carmen Martínez‐Romero María investigator.; Martínez Fernández Pilar investigator.; Martínez Santamaría Lucía investigator.; Martorell Loreto investigator.; Meade Patricia investigator.; Meana Álvaro investigator.; Ángel Medina Miguel investigator.; Medrano Andrés investigator.; Mendes Ingrid investigator.; Méndez‐Vidal Cristina investigator.; Millán JoséM. investigator.; Minguez Pablo investigator.; Minguillón Jordi investigator.; Mirra Serena investigator.; Molla Belén investigator.; Moltó Eduardo investigator.; Montero Raquel investigator.; Montoliu Lluis investigator.; Montoya Julio investigator.; Morán María investigator.; Moren Constanza investigator.; Moreno Mireia investigator.; Moreno JoséCarlos investigator.; Moreno‐Galdó Antonio investigator.; Ángel Moreno‐Pelayo Miguel investigator.; A Mori María investigator.; Morin Matías investigator.; Morte Beatriz investigator.; Mulero Victoriano investigator.; Muñoz‐Pujol Gerard investigator.; Murillas Rodolfo investigator.; Murillo‐Cuesta Silvia investigator.; Nascimento Andrés investigator.; Navarro Susana investigator.; Navas Plácido investigator.; Nevado Julián investigator.; Nicolas Adrià investigator.; Ángela Nieto M. investigator.; O′Callaghan Mar investigator.; Olavarrieta Leticia investigator.; Ormazabal Aida investigator.; Ortiz‐Romero Paula investigator.; Osorio Ana investigator.; Páez David investigator.; Palacín Manuel investigator.; Gabriela Palacios‐Verdú M. investigator.; Palau Francesc investigator.; Palencia‐Campos Adrián investigator.; Pallardó Federico V. investigator.; Palomares María investigator.; Peña‐Chilet María investigator.; Pérez Belén investigator.; Perez‐Florido Javier investigator.; Pérez‐García Débora investigator.; Perez‐Jimenez Eva investigator.; Pérez‐Jurado Luis A. investigator.; Perkins James R. investigator.; Perona Rosario investigator.; Pie Juan investigator.; Pinós Tomàs investigator.; Pinto Sheila investigator.; Potrony Miriam investigator.; Puig Susana investigator.; Antón Puig‐Butille Joan investigator.; Puisac Beatriz investigator.; Pujol Roser investigator.; Pujol Aurora investigator.; Quintana Óscar investigator.; Rabionet Raquel investigator.; JoséRamírez de Haro María investigator.; Ramos Feliciano J. investigator.; Ranea Juan A.G. investigator.; Reina‐Castillón Judith investigator.; Resmini Eugenia investigator.; Ribes Antonia investigator.; Rica Itxaso investigator.; Richard Eva investigator.; Riera Pau investigator.; Río Paula investigator.; Riveiro‐Alvarez Rosa investigator.; Rivera José investigator.; Rivera‐Barahona Ana investigator.; Robledo Mercedes investigator.; Carlos Rodriguez‐Aguilera Juan investigator.; Rodríguez‐de la Rosa Lourdes investigator.; Rodríguez‐Palmero Agustí investigator.; Rodriguez‐Pombo Pilar investigator.; Rodriguez‐Revenga Laia investigator.; Rodríguez‐Santiago Benjamín investigator.; Rodríguez‐Sureda Víctor investigator.; Rodríguez de Alba Marta investigator.; Rodríguez de Cordoba Santiago investigator.; Romá‐Mateo Carlos investigator.; Rubio Vicente investigator.; Ruiz Ángela investigator.; Ruiz Montserrat investigator.; Ruiz‐Arenas Carlos investigator.; Luis Ruiz‐Perez Victor investigator.; Ruiz‐Pesini Eduardo investigator.; Ruiz‐Ponte Clara investigator.; Rullo Josep investigator.; Sabater Lidia investigator.; Salazar Juliana investigator.; Salido Eduardo investigator.; Sanchez‐Jimeno Carolina investigator.; María Sánchez Cuesta Ana investigator.; JoséSánchez Soler María investigator.; Santacatterina Fulvio investigator.; Santamarina Marta investigator.; Santos Alicia investigator.; Santos‐Ocaña Carlos investigator.; Santos Simarro Fernando investigator.; Sanz Pascual investigator.; Sastre Leandro investigator.; Schlüter Agatha investigator.; Segovia JoséCarlos investigator.; Segura‐Puimedon María investigator.; Seoane Pedro investigator.; Serra‐Juhe Clara investigator.; Serrano Mercedes investigator.; Serratosa JoséM. investigator.; Sevilla Teresa investigator.; Surrallés Jordi investigator.; Tahsin‐Swafiri Saoud investigator.; Tell‐Martí Gemma investigator.; Antonio Tenorio‐Castaño Jair investigator.; Tizzano Eduardo investigator.; Tobias Ester investigator.; Tort Frederic investigator.; Trujillano Laura investigator.; JoséTrujillo‐Tiebas María investigator.; Ugalde Cristina investigator.; Ugarteburu Olatz investigator.; Urreizti Roser investigator.; Urrutia Inés investigator.; Valencia María investigator.; Vallcorba Patricia investigator.; Vallespín Elena investigator.; Varela‐Nieto Isabel investigator.; Vega Ana investigator.; Vélez‐Santamaria Valentina investigator.; Vílchez Juan J. investigator.; Villa Olaya investigator.; Villamar Manuela investigator.; Webb Susan M. investigator.; Zubeldia JoséManuel investigator.; Zurita Olga investigator.;
• Is Part Of: Clinical genetics. Volume 101:Issue 5/6(2022)
• Page Start: 481
• Page End: 493
• Publication Date: 2022-02-04
• Subjects: genetics -- new therapeutic approaches -- novel genes -- rare diseases -- research network; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14113
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :