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.
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: 36990717 Journal: NEUROLOGY Year: 2023 Reference: Neurology. 2023 Aug 1;101(5):e570-e575. doi: 10.1212/WNL.0000000000207246. Epub 2023 Mar 29. Impact factor: Publication type: Letter or abstract Authors: Auger, Cristina; Baucells, Andres; Gonzalez, Victoria; Llaurado, Arnau; Rodrigo-Gisbert, Marc et al. DOI: 10.1212/WNL.0000000000207246
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; Vilaseca, Andreu et al. DOI: 10.1212/WNL.0000000000207702
PMID: 36054588 Journal: MOVEMENT DISORDERS Year: 2022 Reference: Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Impact factor: Publication type: Paper in international publication Authors: Barwick, Katy; Cobben, Jan; Dale, Russell C; Danti, Federica R; De Grandis, Elisa; Gorman, Kathleen; Guerrini, Renzo; Kurian, Manju A; Leuzzi, Vincenzo; Macaya, Alfons et al. DOI: 10.1002/mds.29182
PMID: 36041817 Journal: JOURNAL OF MEDICAL GENETICS Year: 2022 Reference: J Med Genet. 2022 Dec;59(12):1227-1233. doi: 10.1136/jmg-2022-108529. Epub 2022 Aug 30. Impact factor: Publication type: Paper in international publication Authors: Becker, Hubert Dominique; Casasnovas, Carlos; Launay, Nathalie; Macaya, Alfons; Pujol, Aurora; Raspall-Chaure, Miquel; Rodriguez-Palmero, Agusti; Ruiz, Montserrat; Schluter, Agatha; Senger, Bruno et al. DOI: 10.1136/jmg-2022-108529
PMID: 35971869 Journal: EUROPEAN JOURNAL OF NEUROLOGY Year: 2022 Reference: Eur J Neurol. 2022 Nov;29(11):3475-3477. doi: 10.1111/ene.15522. Epub 2022 Aug 22. Impact factor: Publication type: Letter or abstract Authors: Cattinari, Maria Grazia; Madruga-Garrido, Marcos; Martinez-Moreno, Mercedes; Munell, Francina; Nascimento, Andres; Pascual Pascual, Samuel Ignacio; Pitarch Castellano, Inmaculada; Povedano, Monica; Vazquez-Costa, Juan F et al. DOI: 10.1111/ene.15522
PMID: 35955418 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2022 Reference: Int J Mol Sci. 2022 Jul 27;23(15). pii: ijms23158289. doi: 10.3390/ijms23158289. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Aller, Elena; Bernal, Sara; Bertini, Enrico; Blasco-Perez, Laura; Boronat, Susana; Castiglioni, Claudia; Codina-Sola, Marta; Costa-Comellas, Laura; Costa-Roger, Mar et al. DOI: 10.3390/ijms23158289
PMID: 34502108 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Aug 25;22(17). pii: ijms22179200. doi: 10.3390/ijms22179200. Impact factor: Publication type: Review in international publication Authors: Couce, Maria Luz; de Castro, Maria Jose; Del Toro, Mireia; Giugliani, Roberto et al. DOI: 10.3390/ijms22179200
PMID: 34418116 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2021 Reference: J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. Impact factor: Publication type: Paper in international publication Authors: Andreasen, Anne Katrine; Blaettler, Thomas; Da Riol, Rosalia M; Day, Simon; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Geist, Marie Aavang; Gronborg, Sabine; Grunewald, Stephanie et al. DOI: 10.1002/jimd.12428
PMID: 34415322 Journal: BRAIN Year: 2021 Reference: Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Impact factor: Publication type: Paper in international publication Authors: Adams, David R; Barredo, Estibaliz; Benkirane, Mehdi; Brusco, Alfredo; Canonico, Francesco; Casasnovas, Carlos; Chacon, Almudena; de la Calle, Irene; de Souza, Precilla; Fossati, Chiara et al. DOI: 10.1093/brain/awab124
PMID: 34247932 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2021 Reference: Mol Genet Metab. 2021 Sep-Oct;134(1-2):175-181. doi: 10.1016/j.ymgme.2021.07.001. Epub 2021 Jul 7. Impact factor: Publication type: Paper in international publication Authors: Alexanderian, David; Cleary, Maureen; Del Toro, Mireia; Gasperini, Serena; Muenzer, Joseph; Muschol, Nicole; Sevin, Caroline; Shapiro, Elsa; Whitley, Chester B; Wijburg, Frits A et al. DOI: 10.1016/j.ymgme.2021.07.001
PMID: 32619640 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2020 Reference: J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. Impact factor: Publication type: Paper in international publication Authors: Armstrong, Judith; Artuch, Rafael; Ayuso, Carmen; Balcells, Susanna; Barbetti, Fabrizio; Beltran, Sergi; Benitez, Javier; Bianchi, Paola; Brice, Alexis; Bullich, Gemma et al. DOI: 10.1016/j.jmoldx.2020.06.008
PMID: 32875335 Journal: BRAIN Year: 2020 Reference: Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Impact factor: Publication type: Paper in international publication Authors: Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Alonso-Perez, Jorge; Bello, Luca; Bruno, Claudio; Camacho-Salas, Ana; Claeys, Kristl G; Comi, Giacomo Pietro; Costa-Comellas, Laura; D'Amico, Adele et al. DOI: 10.1093/brain/awaa228
PMID: 32873244 Journal: Journal of Neurodevelopmental Disorders Year: 2020 Reference: J Neurodev Disord. 2020 Sep 1;12(1):24. doi: 10.1186/s11689-020-09327-0. Impact factor: Publication type: Paper in international publication Authors: Agranovich, Oleg; Allaire, Catherine; Altunbasak, Sakir; Anlar, Banu; Aparicio, Susana Roldan; Auvin, Stephane; Barca, Manuel Oscar Blanco; Baumann, Matthias; Belousova, Elena; Belyaev, Oleg Valeryevich et al. DOI: 10.1186/s11689-020-09327-0
PMID: 32787960 Journal: Orphanet Journal of Rare Diseases Year: 2020 Reference: Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7. Impact factor: Publication type: Paper in international publication Authors: Atalaia, Antonio; Beltran, Sergi; Bonne, Gisele; Bros-Facer, Virginie; Carmody, Leigh; Chinnery, Patrick; Corvo, Alberto; Desaphy, Jean-Francois; Evangelista, Teresinha; Fontaine, Bertrand et al. DOI: 10.1186/s13023-020-01493-7
PMID: 31481303 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2019 Reference: Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Impact factor: Publication type: Paper in international publication Authors: Amrom, D; Barisic, N; Baxter, P; Bertini, E; Blumkin, L; Boltshauser, E; Brandsma, R; Brankovic-Sreckovic, V; Brouwer, O F; Burk, K et al. DOI: 10.1016/j.ejpn.2019.08.004
PMID: 31428037 Journal: Frontiers in Neurology Year: 2019 Reference: Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Beaure d'Augeres, Guillaume; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; de Vries, Petrus J; Ferreira, Jose C; Feucht, Martha et al. DOI: 10.3389/fneur.2019.00821
PMID: 31427717 Journal: Scientific Reports Year: 2019 Reference: Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Impact factor: Publication type: Paper in international publication Authors: Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Amoros, Maria Inmaculada; Antinolo, Guillermo; Antonio, Victoria San; Aquino, Lourdes; Arellano, Carmen; Armstrong, Judith et al. DOI: 10.1038/s41598-019-48385-w
PMID: 31394303 Journal: JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS Year: 2019 Reference: J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. Impact factor: Publication type: Paper in international publication Authors: Aldamiz-Echevarria, Luis; Almeida Campos, Teresa; Andrade, Fernando; Barba Romero, Miguel Angel; Blasco, Javier; Canedo, Elvira; Ceberio, Leticia; Correcher, Patricia; de Las Heras, Javier; Del Toro, Mireia et al. DOI: 10.1016/j.jpba.2019.112798
PMID: 30066418 Journal: MUSCLE & NERVE Year: 2018 Reference: Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18. Impact factor: Publication type: Paper in international publication Authors: Alejaldre, Aida; Alonso-Jimenez, Alicia; Bonne, Gisele; Carlier, Robert Y; Dabaj, Ivana; Diaz-Manera, Jordi; Gomez Garcia de la Banda, Marta; Gomez-Andres, David; Gonzalez-Mera, Laura; Lopez de Munain, Adolfo et al. DOI: 10.1002/mus.26312
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: Publication type: Paper in international publication Authors: Alamar, Mariana; Candela, Santiago; Climent, Alejandra; Darling, Alejandra; Ferrer, Enrique; Muchart, Jordi; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen; Rumia, Jordi; Vanegas, Maria Isabel et al. DOI: 10.3171/2018.5.PEDS1814
PMID: 30023300 Journal: Molecular genetics and metabolism reports Year: 2018 Reference: Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun. Impact factor: Publication type: Paper in international publication Authors: Blasco-Alonso, Javier; Couce, Maria L; Del Toro, Mireia; Guillen-Navarro, Encarna; Gutierrez-Solana, Luis G; O'Callaghan, Mar; Pintos-Morell, Guillem et al. DOI: 10.1016/j.ymgmr.2018.03.009
PMID: 30024503 Journal: MEDICINE Year: 2018 Reference: Medicine (Baltimore). 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. Impact factor: Publication type: Paper in international publication Authors: Couce, Maria L; Dalmau, Jaime; Del Toro, Mireia; Gonzalez-Gutierrez-Solana, Luis; Gonzalez-Meneses, Antonio; Guillen-Navarro, Encarnacion et al. DOI: 10.1097/MD.0000000000011246
PMID: 28915903 Journal: Orphanet Journal of Rare Diseases Year: 2017 Reference: Orphanet J Rare Dis. 2017 Sep 15;12(1):155. doi: 10.1186/s13023-017-0707-0. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Carratala, Francisco; Couce, Maria L; Cuadras, Daniel; De Diego, Victor; Felipe, Ana; Giros, Marisa; Gort, Laura; Gutierrez-Solana, Luis G; Lopez, Laura et al. DOI: 10.1186/s13023-017-0707-0
PMID: 28918796 Journal: MEDICINA CLINICA Year: 2017 Reference: Med Clin (Barc). 2017 Oct 11;149(7):322. doi: 10.1016/j.medcli.2017.08.007. Impact factor: Publication type: Letter or abstract Authors: Macaya, Alfons; Torra, Roser et al. DOI: 10.1016/j.medcli.2017.08.007
PMID: 28726266 Journal: HUMAN MUTATION Year: 2017 Reference: Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Impact factor: Publication type: Paper in international publication Authors: Alhaddad, Bader; Baldridge, Dustin; Bosio, Mattia; Cole, F Sessions; Collins, James; Grange, Dorothy K; Haack, Tobias B; Maver, Ales; Munell, Francina; Ossowski, Stephan et al. DOI: 10.1002/humu.23297
PMID: 28711742 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Carrascosa, Antonio; Clemente, Maria; Macaya, Alfons; Martinez-Saez, Elena; Munell, Francina; Sanchez-Montanez, Angel; Valenzuela, Irene et al. DOI: 10.1016/j.ejmg.2017.07.007
PMID: 27262445 Journal: RESEARCH IN DEVELOPMENTAL DISABILITIES Year: 2016 Reference: Res Dev Disabil. 2016 Sep;56:83-98. doi: 10.1016/j.ridd.2016.04.009. Epub 2016 Jun 2. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; Delgado, Ignacio; Laporta-Hoyos, Olga; Macaya, Alfons; Melendez-Plumed, Mar; Narberhaus, Ana; Poo, Pilar; Pueyo, Roser; Russi, Maria Eugenia; Segarra, Dolors et al. DOI: 10.1016/j.ridd.2016.04.009
PMID: 27209229 Journal: MEDICINA CLINICA Year: 2016 Reference: Med Clin (Barc). 2016 Sep 2;147(5):211-6. doi: 10.1016/j.medcli.2016.04.004. Epub 2016 May 18. Impact factor: Publication type: Paper in international publication Authors: Macaya, Alfons; Torra, Roser et al. DOI: 10.1016/j.medcli.2016.04.004
PMID: 27072799 Journal: Orphanet Journal of Rare Diseases Year: 2016 Reference: Orphanet J Rare Dis. 2016 Apr 12;11(1):38. doi: 10.1186/s13023-016-0416-0. Impact factor: Publication type: Paper in international publication Authors: Cuenca-Leon, Ester; Dalton, James; Garcia-Jimenez, Maria Concepcion; Giraldo, Jesus; Lopez-Pison, Javier; Macaya, Alfons; Marce-Grau, Anna; Monge-Galindo, Lorena et al. DOI: 10.1186/s13023-016-0416-0
PMID: 26688339 Journal: MITOCHONDRION Year: 2016 Reference: Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Impact factor: Publication type: Paper in international publication Authors: Alston, Charlotte L; Arias, Angela; Arranz, Jose Antonio; Briones, Paz; Bujan, Nuria; Del Toro, Mireia; Ferrer-Cortes, Xenia; Garcia-Cazorla, Angels; Garcia-Villoria, Judit; Jou, Cristina et al. DOI: 10.1016/j.mito.2015.12.004
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: 23535036 Journal: EPILEPSY RESEARCH Year: 2013 Reference: Epilepsy Res. 2013 Aug;105(3):419-22. doi: 10.1016/j.eplepsyres.2013.02.019. Epub 2013 Mar 25. Impact factor: Publication type: Paper in international publication Authors: Armangue, Thais; Elorza, Izaskun; Macaya, Alfons; Raspall-Chaure, Miquel; Sanchez-Montanez, Angel; Vicente-Rasoamalala, Monica et al. DOI: 10.1016/j.eplepsyres.2013.02.019
PMID: 23437350 Journal: PLoS One Year: 2013 Reference: PLoS One. 2013;8(2):e57241. doi: 10.1371/journal.pone.0057241. Epub 2013 Feb 21. Impact factor: Publication type: Paper in international publication Authors: Cormand, Bru; Cuenca-Leon, Ester; Macaya, Alfons; Poca, Maria A; Sahuquillo, Juan; Toma, Claudio; Urbizu, Aintzane et al. DOI: 10.1371/journal.pone.0057241
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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.
