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: 37679823 Journal: Genome Medicine Year: 2023 Reference: Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Airaldi, Ileana Anton; Alberti-Aguilo, M Antonia; Barredo, Estibaliz; Beltran, Sergi; Bullich, Gemma; Caceres-Marzal, Cristina; Casasnovas, Carlos; de Munain, Adolfo Lopez; Del Toro, Mireia et al. DOI: 10.1186/s13073-023-01214-2
PMID: 37853291 Journal: NEUROLOGICAL SCIENCES Year: 2023 Reference: Neurol Sci. 2023 Oct 19. doi: 10.1007/s10072-023-07101-3. Impact factor: Publication type: Paper in international publication Authors: Arnold, Susan; Berciano-Guerrero, Miguel-Angel; Bertini, Enrico; Boesch, Sylvia; Boespflug-Tanguy, Odile; Brungs, Daniel; Buizer, Annemieke I; Charoentum, Chaiyut; Clingan, Philip; Coward, Jermaine et al. DOI: 10.1007/s10072-023-07101-3
PMID: 37852602 Journal: JOURNAL OF NEURORADIOLOGY Year: 2023 Reference: J Neuroradiol. 2023 Oct 16:S0150-9861(23)00252-3. doi: 10.1016/j.neurad.2023.10.006. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Anna, Ardissone; Bertini, Enrico; Bevot, Andrea; Boesch, Sylvia; Boespflug-Tanguy, Odile; Borovecki, Fran; Buizer, Annemieke I; Danti, Federica R; Darling, Alejandra; de Koning, Tom J et al. DOI: 10.1016/j.neurad.2023.10.006
PMID: 37503136 Journal: Year: 2023 Reference: medRxiv. 2023 Jul 13:2023.07.13.23292612. doi: 10.1101/2023.07.13.23292612. Preprint. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Adam, Margaret P; Ahn, Myung-Ju; Akamatsu, Hiroaki; Anderson, Erik S; Blackhall, Fiona; Blau, Hannah; Borghaei, Hossein; Bustamante Alvarez, Jean; Carmody, Leigh C; Chan, Lauren E et al. DOI: 10.1101/2023.07.13.23292612
PMID: 35869995 Journal: JOURNAL OF NEUROLOGY Year: 2022 Reference: J Neurol. 2022 Dec;269(12):6366-6376. doi: 10.1007/s00415-022-11256-y. Epub 2022 Jul 23. Impact factor: Publication type: Paper in international publication Authors: Abegg, M; Aktas, O; Ayzenberg, I; Bigi, S; Breu, M; Brugger, D; Bsteh, G; Felipe-Rucian, A; Ferrazzini, T; Gold, R et al. DOI: 10.1007/s00415-022-11256-y
PMID: 35766460 Journal: CLINICAL PEDIATRICS Year: 2022 Reference: Clin Pediatr (Phila). 2022 Nov;61(11):808-812. doi: 10.1177/00099228221106429. Epub 2022 Jun 29. Impact factor: Publication type: Letter or abstract Authors: Alfons, Macaya; Ana, Felipe-Rucian; Duna, Casadesus-Cabral; Erika, Arno; Ignacio, Delgado-Alvarez; Jorgina, Vila et al. DOI: 10.1177/00099228221106429
PMID: 35735024 Journal: BRAIN Year: 2022 Reference: Brain. 2022 Sep 14;145(9):3214-3224. doi: 10.1093/brain/awac105. Impact factor: Publication type: Paper in international publication Authors: Adams, Hieab H H; Anttila, Verneri; Aromaa, Arpo J; Artto, Ville; Belin, Andrea C; Bivol, Svetlana; Boomsma, Dorret I; Borck, Guntram; Borte, Sigrid; Buring, Julie E et al. DOI: 10.1093/brain/awac105
PMID: 35633061 Journal: JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS Year: 2022 Reference: J Clin Pharm Ther. 2022 Sep;47(9):1475-1477. doi: 10.1111/jcpt.13704. Epub 2022 May 27. Impact factor: Publication type: Letter or abstract Authors: Clemente-Batista, Susana; Del Toro, Mireia; Garcia-Diaz, Hector C; Jimenez-Lozano, Ines; Montaner-Ramon, Alicia; Parramon-Teixido, Carlos J et al. DOI: 10.1111/jcpt.13704
PMID: 34229737 Journal: Orphanet Journal of Rare Diseases Year: 2021 Reference: Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. 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/s13023-021-01917-y
PMID: 34217376 Journal: Acta Neuropathologica Communications Year: 2021 Reference: Acta Neuropathol Commun. 2021 Jul 3;9(1):122. doi: 10.1186/s40478-021-01223-5. Impact factor: Publication type: Paper in international publication Authors: de la Fuente, Sandra; Garcera, Ana; Hidalgo, Ivan; Miralles, Maria P; Munell, Francina; Perez-Garcia, M Jose; Sansa, Alba; Soler, Rosa M et al. DOI: 10.1186/s40478-021-01223-5
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: Publication type: Paper in international publication Authors: Elorza-Vidal, Xabier; Estevez, Raul; Gabau, Elisabet; Macaya, Alfons; Marce-Grau, Anna; Perez-Rius, Carla; Ruiz-Nel Lo, Anna; Sala-Coromina, Julia 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: Publication type: Paper in international publication Authors: Bischoff, Almut Turid; Bonnet, Cecilia; Burns, Colleen; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L; Fraser, Jamie L; Gonzalez, Victoria; Greblikas, Feriandas et al. DOI: 10.1002/mds.28392
PMID: 32767480 Journal: Annals of Clinical and Translational Neurology Year: 2020 Reference: Ann Clin Transl Neurol. 2020 Aug;7(8):1436-1442. doi: 10.1002/acn3.51095. Epub 2020 Aug 6. Impact factor: Publication type: Paper in international publication Authors: Correa-Vela, Marta; Darling, Alejandra; Espinos, Carmen; Fernandez-Rodriguez, Sandra; Hernandez-Vara, Jorge; Jenkins, Alison; Lupo, Vincenzo; Macaya, Alfons; Marce-Grau, Anna; Martinez-Vicente, Marta et al. DOI: 10.1002/acn3.51095
PMID: 32733359 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2020 Jul 7;11:603. doi: 10.3389/fneur.2020.00603. eCollection 2020. 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; Dahlin, Maria; de Vries, Petrus J; Ferreira, Jose C et al. DOI: 10.3389/fneur.2020.00603
PMID: 32657062 Journal: Journal of Clinical Neurology Year: 2020 Reference: J Clin Neurol. 2020 Jul;16(3):416-422. doi: 10.3988/jcn.2020.16.3.416. Impact factor: Publication type: Paper in international publication Authors: Fonseca, Elena; Gallardo, Victor Jose; Macaya, Alfons; Pozo-Rosich, Patricia; Torres-Ferrus, Marta et al. DOI: 10.3988/jcn.2020.16.3.416
PMID: 32646958 Journal: NEUROLOGY Year: 2020 Reference: Neurology. 2020 Oct 6;95(14):e2045-e2046. doi: 10.1212/WNL.0000000000010264. Epub 2020 Jul 9. Impact factor: Publication type: Letter or abstract Authors: Felipe-Rucian, Ana; Nassenstein, Isabelle; Reindl, Markus; Rostasy, Kevin; Wegener-Panzer, Andreas et al. DOI: 10.1212/WNL.0000000000010264
PMID: 31333563 Journal: Frontiers in Neurology Year: 2019 Reference: Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; d'Augeres, Guillaume Beaure; Dahlin, Maria; de Vries, Petrus J; Ferreira, Jose C et al. DOI: 10.3389/fneur.2019.00705
PMID: 31300657 Journal: Nature Communications Year: 2019 Reference: Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Impact factor: Publication type: Paper in international publication Authors: Abubakar, Sanni; Aguennouz, Mhammed; Al-Mutairi, Fuad; AlKhawaja, Issam; AlKhawaja, Mariam; Alkuraya, Fowzan S; Amadori, Elisabetta; Armstrong-Moron, Judith; Atawneh, Osama; Avdjieva, Daniela et al. DOI: 10.1038/s41467-019-10910-w
PMID: 31202597 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2019 Reference: Eur J Paediatr Neurol. 2019 Jul;23(4):546-559. doi: 10.1016/j.ejpn.2019.05.010. Epub 2019 May 21. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; Gimeno, Francisca; Laporta-Hoyos, Olga; Leiva, David; Macaya, Alfons; Melendez-Plumed, Mar; Miralbell, Julia; Pueyo, Roser; Ribas, Teresa; Russi, Maria Eugenia et al. DOI: 10.1016/j.ejpn.2019.05.010
PMID: 31130326 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2019 Reference: Mol Genet Metab. 2019 Jun;127(2):138-146. doi: 10.1016/j.ymgme.2019.05.011. Epub 2019 May 21. Impact factor: Publication type: Paper in international publication Authors: Barrabes, Jose A; Cohen, Ian J; Del Toro, Mireia; Feldman, Hagit Baris; Gutstein, Ariel; Kurolap, Alina; Shafir, Gideon; Spiegel, Ronen et al. DOI: 10.1016/j.ymgme.2019.05.011
PMID: 30013928 Journal: NeuroImage-Clinical Year: 2018 Reference: Neuroimage Clin. 2018 Jun 14;19:892-900. doi: 10.1016/j.nicl.2018.06.015. eCollection 2018. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; Boyd, Roslyn N; Delgado, Ignacio; Fiori, Simona; Laporta-Hoyos, Olga; Leiva, David; Macaya, Alfons; Pagnozzi, Alex M; Pannek, Kerstin; Pueyo, Roser et al. DOI: 10.1016/j.nicl.2018.06.015
PMID: 29925411 Journal: Orphanet Journal of Rare Diseases Year: 2018 Reference: Orphanet J Rare Dis. 2018 Jun 20;13(1):97. doi: 10.1186/s13023-018-0840-4. Impact factor: Publication type: Paper in international publication Authors: Chakrapani, Anupam; Del Toro, Mireia; Donati, Maria Alice; Garcia-Cazorla, Angeles; Giordano, Vincenzo; Gonzalez, Maria Julieta; Plisson, Celine; Segarra, Nuria Garcia; Valayannopoulos, Vassili et al. DOI: 10.1186/s13023-018-0840-4
PMID: 29801985 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2018 Reference: Mol Genet Metab. 2018 Jul;124(3):216-227. doi: 10.1016/j.ymgme.2018.04.013. Epub 2018 Apr 30. Impact factor: Publication type: Paper in international publication Authors: Ceberio-Hualde, L; Del Toro, M; Molto-Abad, M; Morales-Conejo, M; Munoz-Delgado, C; Perez-Lopez, J et al. DOI: 10.1016/j.ymgme.2018.04.013
PMID: 28610805 Journal: NEFROLOGIA Year: 2018 Reference: Nefrologia. 2018 May - Jun;38(3):333-335. doi: 10.1016/j.nefro.2017.03.019. Epub 2017 Jun 10. Impact factor: Publication type: Letter or abstract Authors: Balcells, Joan; Del Toro, Mireia; Martinez de Companon, Zurine; Moreno, Antonio; Poblet-Puig, Miriam; Valles, Griselda; Vilalta, Ramon et al. DOI: 10.1016/j.nefro.2017.03.019
PMID: 28702354 Journal: NeuroImage-Clinical Year: 2017 Reference: Neuroimage Clin. 2017 May 12;15:789-800. doi: 10.1016/j.nicl.2017.05.005. eCollection 2017. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; Boyd, Roslyn; Delgado, Ignacio; Junque, Carme; Laporta-Hoyos, Olga; Macaya, Alfons; Melendez-Plumed, Mar; Pannek, Kerstin; Poo, Pilar; Pueyo, Roser et al. DOI: 10.1016/j.nicl.2017.05.005
PMID: 28661963 Journal: PEDIATRIC INFECTIOUS DISEASE JOURNAL Year: 2017 Reference: Pediatr Infect Dis J. 2017 Dec;36(12):1214-1216. doi: 10.1097/INF.0000000000001668. Impact factor: Publication type: Paper in international publication Authors: Amado, Alfonso; Anton, Andres; Cabrerizo, Maria; Del Campo, Victor; Garcia-Iniguez, Juan Pablo; Madurga-Revilla, Paula; Martinez-Sapina, Ana; Masa-Calles, Josefa; Munell, Francina; Otero, Almudena et al. DOI: 10.1097/INF.0000000000001668
PMID: 28608616 Journal: HUMAN BRAIN MAPPING Year: 2017 Reference: Hum Brain Mapp. 2017 Sep;38(9):4594-4612. doi: 10.1002/hbm.23686. Epub 2017 Jun 13. Impact factor: Publication type: Paper in international publication Authors: Ballester-Plane, Julia; de Reus, Marcel A; Delgado, Ignacio; Junque, Carme; Laporta-Hoyos, Olga; Macaya, Alfons; Poo, Pilar; Pueyo, Roser; Schmidt, Ruben; Toro, Esther et al. DOI: 10.1002/hbm.23686
PMID: 28566750 Journal: Scientific Reports Year: 2017 Reference: Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x. Impact factor: Publication type: Paper in international publication Authors: Barroeta, Isabel; Carreno, Oriel; Cormand, Bru; Corominas, Roser; Cuenca-Leon, Ester; Fernandez-Castillo, Noelia; Macaya, Alfons; Roig, Carles; Sintas, Celia; Toma, Claudio et al. DOI: 10.1038/s41598-017-02554-x
PMID: 26927950 Journal: DRUGS Year: 2016 Reference: Drugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9. Impact factor: Publication type: Paper in international publication Authors: Bjornvold, Marit; Curatolo, Paolo; Dill, Patricia E; Ferreira, Jose Carlos; Feucht, Martha; Hertzberg, Christoph; Jansen, Anna; Jozwiak, Sergiusz; Kingswood, J Christopher; Kotulska, Katarzyna et al. DOI: 10.1007/s40265-016-0552-9
PMID: 26908836 Journal: JOURNAL OF MEDICAL GENETICS Year: 2016 Reference: J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. Impact factor: Publication type: Paper in international publication Authors: Arash, Laila; Bartholomew, Dennis; Beck, Michael; Bhattacharya, Kaustuv; Cimbalistiene, Loreta; Coker, Mahmut; Ezgu, Fatih; Falk, Rena E; Franco, Jose; Giugliani, Roberto et al. DOI: 10.1136/jmedgenet-2015-103322
PMID: 22490775 Journal: PEDIATRIC NEUROLOGY Year: 2012 Reference: Pediatr Neurol. 2012 Apr;46(4):257-9. Impact factor: Publication type: Paper in international publication Authors: Armangue, Thais; Jurado, Maria Jose; Macaya, Alfons; Roig-Quilis, Manuel; Vazquez, Elida et al. DOI: 10.1016/j.pediatrneurol.2012.02.011
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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.
