About the VHIR
Here at the Vall d'Hebron Research Institute (VHIR) we promote biomedical research, innovation and teaching. Over 1,800 people are seeking to understand diseases today so the treatment can be improved tomorrow.
Research
We are working to understand diseases, to find out how they operate and to create better treatments for patients. Get to know about our groups and their lines of research.
People
People are the centre of the Vall d'Hebron Research Institute (VHIR). This is why we are bound by the principles of freedom of research, gender equality and professional attitudes that HRS4R promotes.
Clinical trials
Our work is not just basic or translational; we are leaders in clinical research. Enter and find about the clinical trials we are conducting and why we are a world reference in this field.
Progress
Our aim is to make the research carried out at the Vall d’Hebron Research Institute (VHIR) a driving force for transformation. How? By identifying new channels and solutions for the promotion of people's health and well-being.
Core facilities
We offer specialist support for researchers, internal and external alike, ranging from specific services to preparing complete projects. All this, from a perspective of quality and speed of response.
News
We offer you a gateway for staying up to date on everything going on at the Vall d’Hebron Research Institute (VHIR), from the latest news to future solidarity activities and initiatives that we are organising.
The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.
IP: Alfons Macaya Ruíz
IP: Francina Munell Casadesus
IP: Belen Perez Dueñas Collaborators: Ana Laura Cazurro Gutierrez, Judit Álvarez González Funding agency: AGAUR Funding: 64425.41 Reference: AGAUR/BEQUESFIPREDOC/2022/CAZURRO Duration: 01/04/2022 - 31/03/2025
IP: Alfons Macaya Ruíz Collaborators: Miquel Raspall Chaure, Mireia del Toro Riera, Ana Felipe Rucián Funding agency: Instituto de Salud Carlos III Funding: 196020 Reference: PI20/01803 Duration: 01/01/2021 - 31/12/2023
IP: Belen Perez Dueñas Collaborators: Maria Victoria Gonzalez Martinez, Ana Laura Cazurro Gutierrez Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 31/12/2024
IP: Belen Perez Dueñas Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián Funding agency: Instituto de Salud Carlos III Funding: 196020 Reference: PI18/01319 Duration: 01/01/2019 - 31/12/2022
IP: Francina Munell Casadesus Collaborators: Laura Costa Comellas, Elena Antima Martinez Saez, Maite Avilés García, David Gómez Andrés Funding agency: Instituto de Salud Carlos III Funding: 73205 Reference: AC19/00048 Duration: 01/01/2020 - 31/12/2022
IP: Belen Perez Dueñas Collaborators: - Funding agency: Instituto de Salud Carlos III Funding: 60000 Reference: PI18/01319_INT_DUEÑAS Duration: 01/01/2020 - 31/12/2021
IP: Alfons Macaya Ruíz Collaborators: Miquel Raspall Chaure Funding agency: Instituto de Salud Carlos III Funding: 140965 Reference: PI15/01791 Duration: 01/01/2016 - 30/11/2020
IP: Belen Perez Dueñas Collaborators: - Funding agency: Instituto de Salud Carlos III Funding: 108328.95 Reference: PI15/00287 Duration: 17/01/2018 - 30/11/2020
IP: Alfons Macaya Ruíz Collaborators: Elena García Arumí, Francina Munell Casadesus, Teresa Vendrell Bayona, Ramon Martí Seves, David Gómez Andrés, Eduardo Fidel Tizzano Funding agency: Generalitat de Catalunya - Departament de Salut Funding: 113977.67 Reference: SLT002/16/00174 Duration: 01/01/2017 - 31/12/2019
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Fundació Institut de Recerca HUVH Funding: 46800 Reference: PRED-VHIR-2014-2 Duration: 16/02/2015 - 15/02/2018
IP: Belen Perez Dueñas Collaborators: - Funding agency: Fundació La Marató de TV3 Funding: 42752.35 Reference: 20143130 Duration: 01/01/2018 - 31/12/2018
IP: Alfons Macaya Ruíz Collaborators: Laia Perez Lasarte Funding agency: Ministerio Economía, Industria y Competitividad Funding: 39200 Reference: PEJ-2014-A-51663 Duration: 19/11/2015 - 19/11/2017
IP: Francina Munell Casadesus Collaborators: Maria Jose Pérez García, Mireia del Toro Riera, Elena Antima Martinez Saez Funding agency: Instituto de Salud Carlos III Funding: 57475 Reference: PI13/00052 Duration: 01/01/2014 - 30/09/2017
IP: Francina Munell Casadesus Collaborators: Maria Jose Pérez García Funding agency: Instituto de Salud Carlos III Funding: 99000 Reference: CA12/00492 Duration: 31/01/2013 - 30/01/2016
IP: Francina Munell Casadesus Collaborators: Maria Jose Pérez García Funding agency: AGAUR Funding: 91022.4 Reference: 2013 BP_B 00083 Duration: 01/10/2014 - 30/09/2016
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: AGAUR Funding: 39231.52 Reference: 2010 BP_A2 00025 Duration: 27/10/2014 - 26/10/2015
IP: Alfons Macaya Ruíz Collaborators: Marta Vila Pueyo Funding agency: Fundació Institut de Recerca HUVH Funding: 42000 Reference: PRED-VHIR-2010-12 Duration: 03/03/2011 - 02/03/2014
IP: Francina Munell Casadesus Collaborators: Mireia del Toro Riera, Mario Marotta Baleriola Funding agency: Instituto de Salud Carlos III Funding: 154275 Reference: PI09/00097 Duration: 01/01/2010 - 31/10/2013
IP: Alfons Macaya Ruíz Collaborators: Miquel Raspall Chaure, Marta Vila Pueyo Funding agency: Instituto de Salud Carlos III Funding: 98615 Reference: PI12/01005 Duration: 01/01/2013 - 31/12/2015
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Instituto de Salud Carlos III Funding: 30000 Reference: INT11/340 Duration: 01/01/2012 - 31/12/2012
IP: Alfons Macaya Ruíz Collaborators: Patricia Pozo Rosich, Susana Boronat Guerero, Miquel Raspall Chaure, Marta Vila Pueyo Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 90750.02 Reference: SAF2009-13182-C03-03 Duration: 01/01/2010 - 31/12/2012
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: AGAUR Funding: 60147.96 Reference: 2011FI_B2 00093 Duration: 01/01/2009 - 31/12/2011
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 100980 Reference: JCI-2010-06298 Duration: 03/12/2010 - 31/08/2011
IP: Alfons Macaya Ruíz Collaborators: Ma Antonia Poca Pastor, Teresa Vendrell Bayona Funding agency: Fundació La Marató de TV3 Funding: 194125 Reference: MARATV3_062710 Duration: 07/02/2007 - 30/06/2011
IP: Alfons Macaya Ruíz Collaborators: Susana Boronat Guerero, Mireia del Toro Riera, Daniel Carranza Rojo Funding agency: Instituto de Salud Carlos III Funding: 84216 Reference: PI061606 Duration: 01/01/2007 - 30/09/2010
IP: Alfons Macaya Ruíz Collaborators: Daniel Carranza Rojo Funding agency: Instituto de Salud Carlos III Funding: Reference: CM05/00076 Duration: 01/02/2006 - 31/05/2009
IP: - Collaborators: Daniel Carranza Rojo Funding agency: Instituto de Salud Carlos III Funding: 936.36 Reference: CM05/00076-EST Duration: 01/06/2008 - 31/05/2009
IP: Francina Munell Casadesus Collaborators: Joan Morote Robles Funding agency: Instituto de Salud Carlos III Funding: 90440 Reference: PI052684 Duration: 01/01/2006 - 31/05/2009
IP: Francina Munell Casadesus Collaborators: - Funding agency: Fundació Institut de Recerca HUVH Funding: 13200 Reference: PRED/IR-HUVH/41/20040, Duration: 01/01/2006 - 31/12/2008
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Fundació Institut de Recerca HUVH Funding: 13200 Reference: PRED/IR-HUVH/30/2004 Duration: 01/01/2005 - 31/12/2008
IP: - Collaborators: - Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: Reference: RYC-2003-4009. Duration: 15/11/2004 - 01/03/2006
IP: Francina Munell Casadesus Collaborators: Tomàs Pinós Figueras Funding agency: Instituto de Salud Carlos III Funding: Reference: BEFI_01/9425 Duration: 26/09/2002 - 30/09/2005
IP: Francina Munell Casadesus Collaborators: - Funding agency: Serono España SA Funding: 18030 Reference: SERONO/01/02 Duration: 01/02/2002 - 31/01/2005
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: Reference: FP2000-5484 Duration: 05/07/2001 - 13/10/2004
IP: Alfons Macaya Ruíz Collaborators: - Funding agency: Ministerio de Ciencia y Tecnología Funding: 70198.21 Reference: SAF2000-0197 Duration: 01/04/2000 - 01/04/2004
IP: Francina Munell Casadesus Collaborators: - Funding agency: Instituto de Salud Carlos III Funding: 24100.59 Reference: 98/0354 Duration: 01/11/1998 - 01/11/1999
PMID: 34942136 Journal: LANCET NEUROLOGY Year: 2022 Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Impact factor: 44.182 Publication type: Paper in international publication Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al. DOI: 10.1016/S1474-4422(21)00367-7
PMID: 34988976 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2022 Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5. Impact factor: 5.449 Publication type: Paper in international publication Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al. DOI: 10.1111/dmcn.15125
PMID: 35766460 Journal: CLINICAL PEDIATRICS Year: 2022 Reference: Clin Pediatr (Phila). 2022 Jun 29:99228221106429. doi: 10.1177/00099228221106429. Impact factor: 1.168 Publication type: Paper in international publication Authors: Erika, Arno; Alfons, Macaya; Ignacio, Delgado-Alvarez; Ana, Felipe-Rucian; Jorgina, Vila; Duna, Casadesus-Cabral et al. DOI: 10.1177/00099228221106429
PMID: 35766882 Journal: HUMAN MOLECULAR GENETICS Year: 2022 Reference: Hum Mol Genet. 2022 Jun 29. pii: 6619440. doi: 10.1093/hmg/ddac146. Impact factor: 6.15 Publication type: Paper in international publication Authors: Espinos, Carmen; AIguilera-Albesa, Sergio; Fazzari, Pietro; Perez-Duenas, Belen; Hernandez, Alberto; Soriano-Navarro, Mario; Jenkins, Alison; Marco-Marin, Clara; Miquel-Leal, Javier; Gorria-Redondo, Nerea et al. DOI: 10.1093/hmg/ddac146
PMID: 34415322 Journal: BRAIN Year: 2021 Reference: Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Impact factor: 13.501 Publication type: Paper in international publication Authors: Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schluter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marce-Grau, Anna et al. DOI: 10.1093/brain/awab124
PMID: 34212451 Journal: HUMAN MUTATION Year: 2021 Reference: Hum Mutat. 2021 Oct;42(10):1215-1220. doi: 10.1002/humu.24252. Epub 2021 Jul 10. Impact factor: 4.878 Publication type: Paper in international publication Authors: Marce-Grau, Anna, Elorza-Vidal, Xabier, Perez-Rius, Carla, Ruiz-Nel Lo, Anna, Sala-Coromina, Julia, Estevez, Raul, Macaya, Alfons, Gabau, Elisabet et al. DOI: 10.1002/humu.24252
PMID: 33200489 Journal: MOVEMENT DISORDERS Year: 2021 Reference: Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16. Impact factor: 10.338 Publication type: Paper in international publication Authors: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Greblikas, Feriandas, Burns, Colleen, Comella, Cynthia, Correa-Vela, Marta, Escolar, Maria L et al. DOI: 10.1002/mds.28392
PMID: 34149592 Journal: Frontiers in Neurology Year: 2021 Reference: Front Neurol. 2021 Jun 3;12:646841. doi: 10.3389/fneur.2021.646841. eCollection 2021. Impact factor: 4.003 Publication type: Review in international publication Authors: Albanese, Alberto, Benson, Monika, Edwards, Mark J, Graessner, Holm, Hutchinson, Michael, Jech, Robert, Krauss, Joachim K, Morgante, Francesca, Perez Duenas, Belen, Reilly, Richard B et al. DOI: 10.3389/fneur.2021.646841
PMID: 33629063 Journal: Brain communications Year: 2020 Reference: Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Impact factor: 0 Publication type: Paper in international publication Authors: Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C, Hayflick, Susan, Wassmer, Evangeline, Webster, Richard I, Prelog, Kristina, Mohammad, Shekeeb S, Biggin, Andrew et al. DOI: 10.1093/braincomms/fcaa178
PMID: 33519696 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020. Impact factor: 2.889 Publication type: Review in international publication Authors: Krageloh-Mann, Ingeborg, Landwehrmeyer, G Bernhard, Leber, Isabelle, Macaya, Alfons, Mariotti, Caterina, Meissner, Wassilios G, Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Perez Duenas, Belen et al. DOI: 10.3389/fneur.2020.616569
PMID: 33182294 Journal: Journal of Clinical Medicine Year: 2020 Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603. Impact factor: 3.303 Publication type: Paper in international publication Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al. DOI: 10.3390/jcm9113603
PMID: 33106568 Journal: Scientific Reports Year: 2020 Reference: Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z. Impact factor: 3.998 Publication type: Paper in international publication Authors: Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel et al. DOI: 10.1038/s41598-020-75500-z
PMID: 31745482 Journal: Movement disorders clinical practice Year: 2019 Reference: Mov Disord Clin Pract. 2019 Oct 25;6(8):704-707. doi: 10.1002/mdc3.12842. eCollection 2019 Nov. Impact factor: 0 Publication type: Letter or abstract Authors: Martins, Joana, Darling, Alejandra, Espinos, Carmen, Marti, Maria Jose, Duenas, Belen Perez, Temudo, Teresa, Garrido, Cristina et al. DOI: 10.1002/mdc3.12842
PMID: 31095747 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2019 Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. Impact factor: 4.287 Publication type: Review in international publication Authors: Perez-Duenas, Belen, Marce-Grau, Anna, Marti-Sanchez, Laura, Baide-Mairena, Heidy, Ortigoza-Escobar, Juan Dario et al. DOI: 10.1002/jimd.12125
PMID: 31055958 Journal: Clinical Trials Year: 2019 Reference: Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6. Impact factor: 2.257 Publication type: Paper in international publication Authors: Klopstock, Thomas, Escolar, Maria L, Marshall, Randall D, Perez-Duenas, Belen, Tuller, Sarah, Videnovic, Aleksandar, Greblikas, Feriandas et al. DOI: 10.1177/1740774519845673
PMID: 30340910 Journal: PARKINSONISM & RELATED DISORDERS Year: 2019 Reference: Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Impact factor: 4.36 Publication type: Paper in international publication Authors: Darling, Alejandra, Aguilera-Albesa, Sergio, Tello, Cristina Aisha, Serrano, Mercedes, Tomas, Miguel, Camino-Leon, Rafael, Fernandez-Ramos, Joaquin, Jimenez-Escrig, Adriano, Poo, Pilar, O'Callaghan, Mar et al. DOI: 10.1016/j.parkreldis.2018.10.013
PMID: 30304743 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10. Impact factor: 1.605 Publication type: Paper in international publication Authors: Itzep, Debora, Martinez-Monseny, Antonio F, Bolasell, Merce, Cuadras, Daniel, Velazquez-Fragua, Ramon, Gutierrez-Solana, Luis G, Macaya, Alfons, Perez-Duenas, Belen, Serrano, Mercedes, Aguilera-Albesa, Sergio et al. DOI: 10.1055/s-0038-1673332
PMID: 30176098 Journal: HUMAN MUTATION Year: 2018 Reference: Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Impact factor: 5.359 Publication type: Review in national publication Authors: Navarro-Vilarrubi, Sergi, Casas-Alba, Didac, Martinez-Monseny, Antonio, Pino-Ramirez, Rosa M, Alsina, Laia, Castejon, Esperanza, Palau, Francesc, Garcia-Alix, Alfredo, Serrano, Mercedes, Perez-Duenas, Belen et al. DOI: 10.1002/humu.23638
PMID: 30028274 Journal: Journal of Neurosurgery-Pediatrics Year: 2018 Reference: J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20. Impact factor: 2.162 Publication type: Paper in international publication Authors: Muchart, Jordi, Climent, Alejandra, Ferrer, Enrique, Rumia, Jordi, Perez-Duenas, Belen, Alamar, Mariana, Ortigoza-Escobar, Juan Dario, Vanegas, Maria Isabel, Candela, Santiago, Darling, Alejandra et al. DOI: 10.3171/2018.5.PEDS1814
PMID: 29558773 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20. Impact factor: 1.605 Publication type: Paper in international publication Authors: Flotats-Bastardas, Marina, Ebrahimi-Fakhari, Daniel, Gortner, Ludwig, Zemlin, Michael, Macaya-Ruiz, Alfons, Meyer, Sascha, Poryo, Martin et al. DOI: 10.1055/s-0038-1637738
PMID: 24445160 Journal: EUR J PAEDIATR NEURO Year: 2014 Reference: Eur J Paediatr Neurol. 2014 May;18(3):430-3. doi: 10.1016/j.ejpn.2013.12.011. Epub 2014 Jan 8. Impact factor: 1.934 Publication type: Paper in international publication Authors: Vila-Pueyo, Marta, Gene, Gemma G, Flotats-Bastardes, Marina, Elorza, Xabier, Sintas, Celia, Valverde, Miguel A, Cormand, Bru, Fernandez-Fernandez, Jose M, Macaya, Alfons et al. DOI: 10.1016/j.ejpn.2013.12.011
PMID: 22972573 Journal: REVISTA DE NEUROLOGIA Year: 2012 Reference: Rev Neurol. 2012 Sep 16;55(6):321-9. Impact factor: Publication type: Letter or abstract Authors: Flotats-Bastardas, M, Ortega-Aznar, A, Boronat-Guerrero, S, Raspall-Chaure, M, Del Toro-Riera, M, Munell, F, Macaya-Ruiz, A, Roig-Quilis, M, Vazquez-Mendez, E, Sanchez-Montanez, A et al. DOI:
PhD student: Anna Marcé Grau Director/s: Alfons Macaya Ruíz University: Universitat Autònoma de Barcelona Year: 2018
PhD student: María Teresa Lax Pericall Director/s: University: Universitat Autònoma de Barcelona Year: 2016
El 20% dels pacients en els quals s’havia trobat alguna predisposició genètica van ser diagnosticats amb algun tipus de tumor i van poder iniciar el tractament de manera precoç.
Els actes amb motiu del Dia de les Malalties Minoritàries fan possible que pacients amb malalties diferents es trobin i s’ajudin
Les malalties minoritàries són greus, poc freqüents i afecten 5 de cada 10.000 persones. N'hi ha més de 7.000, un 80% de les quals són d'origen genètic. Generalment impliquen diversos òrgans i afecten les capacitats físiques, les habilitats mentals i les qualitats sensorials i de comportament de les persones afectades.
