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.
Neurogenetics of paroxysmal neurological disorders (neuronal channelopathies)
Genetic and epigenetic basis of neural tube defects and Chiari type I malformation
Clinical researchers have collected samples from more than 2000 patients with paroxysmal neurological disorders (migraine, epilepsy, paroxysmal movement disorders and episodic ataxias) and over 300 patients with Chiari I malformation. Current strategies include whole-genome linkage analysis, exome sequencing, customized array re-sequencing, SNP-based genetic association studies and expression analysis in fetal tissues. The goals in this area are:
- to identify novel genetic variants responsible for these diseases
- to establish a correlation between the genetic variants and the clinical forms of the disease
- to perform functional studies of the mutant proteins
- to design an animal model of cortical spreading depression, with emphasis in epigenetic modification of susceptibility genes.
IP: Alfons Macaya Ruíz
1. DUCHENNE MUSCULAR DYSTROPHY (DMD)
THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES
We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo.
IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY
Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location.
We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs.
2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES
We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches.
IP: Francina Munell Casadesus
IP: Ramon Martí Seves Collaborators: Alfons Macaya Ruíz, Lucas Moreno Martín-Retortillo Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2022 XARDI 00006 Duration: 01/01/2023 - 31/12/2025
IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Ainara Salazar Villacorta, Francina Munell Casadesus, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 01/01/2022 - 30/06/2025
IP: Jordi Barquinero Mañez Collaborators: Laura Costa Comellas, Francina Munell Casadesus, David Gómez Andrés, Rocío Piñera Moreno, Maria Pallares Masmitja Funding agency: Instituto de Salud Carlos III Funding: 117370 Reference: PI22/01027 Duration: 01/01/2023 - 31/12/2025
IP: Jordi Barquinero Mañez Collaborators: Francina Munell Casadesus, Esther Toro Tamargo Funding agency: Instituto de Salud Carlos III Funding: 139150 Reference: PI19/00295 Duration: 01/01/2020 - 30/06/2024
PMID: 36909454 Journal: Molecular Genetics and Metabolism Reports Year: 2023 Reference: Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6. Impact factor: Publication type: Paper in international publication Authors: Cortes-Saladelafont, Elisenda; Del Mar Martinez-Colls, Maria; Del Toro Riera, Mireia; Felipe-Rucian, Ana; Giralt-Lopez, Maria; Gonzalez-Alvarez, Pablo; Graterol Torres, Fredzzia; Ibanez-Mico, Salvador; Joaquin, Clara; Lopez-Laso, Eduardo et al. DOI: 10.1016/j.ymgmr.2023.100962
PMID: 37205244 Journal: Movement Disorders Clinical Practice Year: 2023 Reference: Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May. Impact factor: Publication type: Review in international publication Authors: Batla, Amit; Ben-Pazi, Hilla; Cosentino, Carlos; Dale, Russell C; Ebrahimi-Fakhari, Darius; Friedman, Jennifer; Fung, Victor S C; Hoshino, Kyoko; Kurian, Manju A; Lin, Jean-Pierre et al. DOI: 10.1002/mdc3.13728
PMID: 37443087 Journal: Orphanet Journal of Rare Diseases Year: 2023 Reference: Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4. Impact factor: Publication type: Letter or abstract Authors: Argudo, Ana; Arranz, Jose Antonio; Artuch, Rafael; Carnicer, Clara; de Aledo-Castillo, Jose Manuel Gonzalez; de Los Santos, Mariela Mercedes; Fernandez, Rosa; Garcia-Cazorla, Angeles; Garcia-Villoria, Judit; Garcia-Volpe, Camila et al. DOI: 10.1186/s13023-023-02793-4
PMID: 37580164 Journal: NEUROLOGY Year: 2023 Reference: Neurology. 2023 Aug 14:10.1212/WNL.0000000000207702. doi: 10.1212/WNL.0000000000207702. Impact factor: Publication type: Paper in international publication Authors: Auger, Cristina; Gonzalez, Victoria; Martinez-Saez, Elena; Naranjo, Laura; Ruiz-Garcia, Raquel; Vilaseca, Andreu et al. DOI: 10.1212/WNL.0000000000207702
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: 28341975 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2017 Reference: J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Cuadras, Daniel; de Diego, Victor; Martinez-Monseny, Antonio F; Montero, Raquel; Muchart, Jordi; Perez, Belen; Perez-Cerda, Celia; Perez-Duenas, Belen; Poretti, Andrea et al. DOI: 10.1007/s10545-017-0028-4
PMID: 28600669 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2017 Reference: J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Cuadras, Daniel; de Diego, Victor; Martinez-Monseny, Antonio F; Montero, Raquel; Muchart, Jordi; Perez, Belen; Perez-Cerda, Celia; Perez-Duenas, Belen; Poretti, Andrea et al. DOI: 10.1007/s10545-017-0056-0
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: Agusti Rodriguez Palmero Seuma Director/s: Alfons Macaya Ruíz, Aurora Pujol Onofre University: Universitat Autònoma de Barcelona Year: 2022
PhD student: Anna Marcé Grau Director/s: Alfons Macaya Ruíz University: Universidad Autònoma de Barcelona Year: 2018
PhD student: María Teresa Lax Pericall Director/s: University: Universidad Autònoma de Barcelona Year: 2016
The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.
Over the course of two days, experts presented the latest advances in vectors, different gene modification techniques and their transfer to clinical practice.
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.
