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: 38026127 Journal: Year: 2023 Reference: Front Allergy. 2023 Nov 9;4:1296894. doi: 10.3389/falgy.2023.1296894. eCollection 2023. Impact factor: Publication type: Paper in international publication Authors: Aceituno-Lopez, Maria Angeles; Aceituno-Lopez, Maria Angeles; Alobid, Isam; Camprodon-Gomez, Maria; Del-Toro-Riera, Mireia; Espinosa, Miriam; Gomez de la Fuente, Enrique; Lara-Fernandez, Roser; Lara-Fernandez, Roser; Luca de Tena, Africa et al. DOI: 10.3389/falgy.2023.1296894
PMID: 38135915 Journal: EPILEPSIA Year: 2023 Reference: Epilepsia. 2023 Dec 22. doi: 10.1111/epi.17876. Impact factor: Publication type: Paper in international publication Authors: Aledo-Serrano, Angel; Ananth, Amitha L; Brea-Fernandez, Alejandro J; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J; Fazzi, Elisa et al. DOI: 10.1111/epi.17876
PMID: 35241415 Journal: NEUROLOGIA Year: 2022 Reference: Neurologia (Engl Ed). 2022 Apr;37(3):216-228. doi: 10.1016/j.nrleng.2021.07.002. Epub 2022 Feb 28. Impact factor: Publication type: Paper in national publication Authors: Cabrera-Serrano, M; Calvo Medina, R; Cattinari, M G; Espinosa Garcia, S; Fernandez-Ramos, J A; Garcia Campos, O; Gomez-Andres, D; Grimalt Calatayud, M A; Gutierrez Martinez, A J; Ibanez Albert, E et al. DOI: 10.1016/j.nrleng.2021.07.002
PMID: 35030636 Journal: NEUROPEDIATRICS Year: 2022 Reference: Neuropediatrics. 2022 Apr;53(2):147-148. doi: 10.1055/a-1740-9649. Epub 2022 Jan 14. Impact factor: Publication type: Paper in international publication Authors: Armangue, Thais; Felipe-Rucian, Ana; Gomez-Andres, David; Ortiz de Zarate Caballero, Zurine; Sanchez-Montanez, Angel et al. DOI: 10.1055/a-1740-9649
PMID: 35012964 Journal: NEUROLOGY Year: 2022 Reference: Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Armstrong, Judith; Artuch, Rafael; Beltran, Sergi; Casasnovas, Carlos; Conejo, David; Del Toro, Mireia; Fourcade, Stephane; Garcia-Cazorla, Angels; Giros, Marisa et al. DOI: 10.1212/WNL.0000000000013278
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: Publication type: Paper in international publication Authors: Baide-Mairena, Heidy; Cazurro-Gutierrez, Ana; Delgado, Ignacio; Garcia-Arumi, Elena; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Marti-Sanchez, Laura; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Sanchez-Montanez, Angel et al. DOI: 10.1111/dmcn.15125
PMID: 33974636 Journal: PLoS One Year: 2021 Reference: PLoS One. 2021 May 11;16(5):e0251289. doi: 10.1371/journal.pone.0251289. eCollection 2021. Impact factor: Publication type: Paper in international publication Authors: Ashley-Koch, Allison; Drechsel, Oliver; Garrett, Melanie E; Labuda, Rick; Loth, Dorothy; Loth, Francis; Macaya, Alfons; Marce-Grau, Anna; Mestres I Soler, Olga; Ossowski, Stephan et al. DOI: 10.1371/journal.pone.0251289
PMID: 33931066 Journal: Orphanet Journal of Rare Diseases Year: 2021 Reference: Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Impact factor: Publication type: Paper in international publication Authors: Argudo, Ana; Arranz, Jose Antonio; Artuch, Rafael; Carnicer, Clara; de Aledo-Castillo, Jose Manuel Gonzalez; de Los Santos, Mariela Mercedes; Del Toro, Mireia; Fernandez, Rosa; Garcia-Cazorla, Angeles; Garcia-Villoria, Judit et al. DOI: 10.1186/s13023-021-01784-7
PMID: 33886091 Journal: MOLECULAR NEUROBIOLOGY Year: 2021 Reference: Mol Neurobiol. 2021 Aug;58(8):3938-3952. doi: 10.1007/s12035-021-02391-0. Epub 2021 Apr 22. Impact factor: Publication type: Review in international publication Authors: Bayes, Alex; Cazurro-Gutierrez, Ana; Correa-Vela, Marta; Macaya, Alfons; Marce-Grau, Anna; Perez-Duenas, Belen; Salazar, Ainara; Vanegas, Maria I et al. DOI: 10.1007/s12035-021-02391-0
PMID: 33836684 Journal: BMC Neurology Year: 2021 Reference: BMC Neurol. 2021 Apr 9;21(1):154. doi: 10.1186/s12883-021-02179-8. Impact factor: Publication type: Paper in international publication Authors: Avtzi, Stella; Blanco, Igor; Busch, David R; Camps-Renom, Pol; Cotta, Gianluca; Delgado-Mederos, Raquel; Detre, John A; Durduran, Turgut; Edlow, Brian L; Favilla, Christopher G et al. DOI: 10.1186/s12883-021-02179-8
PMID: 32302941 Journal: EPILEPSY & BEHAVIOR Year: 2020 Reference: Epilepsy Behav. 2020 Jun;107:107067. doi: 10.1016/j.yebeh.2020.107067. Epub 2020 Apr 14. Impact factor: Publication type: Paper in international publication Authors: Coromina, Julia Sala; Macaya-Ruiz, Alfons; Paredes-Carmona, Fernando; Raspall-Chaure, Miquel; Visa-Rene, Nuria et al. DOI: 10.1016/j.yebeh.2020.107067
PMID: 31733569 Journal: EPILEPSY & BEHAVIOR Year: 2020 Reference: Epilepsy Behav. 2020 Jan;102:106340. doi: 10.1016/j.yebeh.2019.04.058. Epub 2019 Nov 13. Impact factor: Publication type: Paper in international publication Authors: Kirkham, Fenella J; Lagae, Lieven; Le Reun, Corinne; Lee, Dawn; Raspall-Chaure, Miquel; Vigevano, Federico; Werner-Kiechle, Tamara; Wilken, Bernd et al. DOI: 10.1016/j.yebeh.2019.04.058
PMID: 32057303 Journal: LANCET NEUROLOGY Year: 2020 Reference: Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Alcantud, Alberto; Alvarez Demanuel, Diana; Alvarez Molinero, Mireia; Aquino Farina, Lourdes; Arino, Helena; Armangue, Thais; Arrabal, Luisa; Arrambide, Georgina; Arriola-Pereda, Gema et al. DOI: 10.1016/S1474-4422(19)30488-0
PMID: 31908952 Journal: Molecular Genetics and Metabolism Reports Year: 2020 Reference: Mol Genet Metab Rep. 2020 Jan 2;22:100553. doi: 10.1016/j.ymgmr.2019.100553. eCollection 2020 Mar. Impact factor: Publication type: Paper in international publication Authors: Argudo-Ramirez, A; Arranz, J A; Casellas, M D; Del Toro, M; Fernandez, R; Garcia-Villoria, J; Gonzalez de Aledo-Castillo, J M; Gort, L; Lopez, R M; Marin, J L et al. DOI: 10.1016/j.ymgmr.2019.100553
PMID: 31026367 Journal: HUMAN MUTATION Year: 2019 Reference: Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Impact factor: Publication type: Paper in international publication Authors: Bezdan, Daniela; Bosio, Mattia; Colobran, Roger; Domenech Salgado, Laura; Drechsel, Oliver; Estivill, Xavier; Hor, Hyun-Gyu; Macaya, Alfons; Munell, Francina; Muyas, Francesc et al. DOI: 10.1002/humu.23772
PMID: 30929742 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2019 Reference: Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Impact factor: Publication type: Paper in international publication Authors: Aguennouz, Mhammed; Alkhawaja, Mariam; Arning, Larissa; Avdjieva, Daniela; Banu, Selina; Bello, Oscar D; Boesch, Sylvia; Boles, Richard; Borgione, Eugenia; Chimenz, Roberto et al. DOI: 10.1016/j.ajhg.2019.02.016
PMID: 30464053 Journal: JOURNAL OF MEDICAL GENETICS Year: 2019 Reference: J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Aisa, Eduardo; Algrabli, Adi; Arjona, Cesar; Artuch, Rafael; Bolasell, Merce; Borregan, Mar; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carratala, Francisco et al. DOI: 10.1136/jmedgenet-2018-105588
PMID: 30578674 Journal: MUSCLE & NERVE Year: 2019 Reference: Muscle Nerve. 2019 Apr;59(4):436-444. doi: 10.1002/mus.26403. Epub 2019 Jan 10. Impact factor: Publication type: Paper in international publication Authors: Bevilacqua, Jorge A; Diaz, Jorge; Garrido, Cristian; Gomez-Andres, David; Munell, Francina; Pulido-Valdeolivas, Irene; Quijano-Roy, Susana; Sanchez-Montanez, Angel; Suazo, Lionel et al. DOI: 10.1002/mus.26403
PMID: 29471552 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Aug;49(4):296-297. doi: 10.1055/s-0038-1626709. Epub 2018 Feb 22. Impact factor: Publication type: Paper in international publication Authors: Flotats-Bastardas, Marina; Hebert, Eva; Lohmann, Katja; Macaya, Alfons; Munell, Francina; Raspall-Chaure, Miquel et al. DOI: 10.1055/s-0038-1626709
PMID: 29470411 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2018 Reference: Int J Mol Sci. 2018 Feb 22;19(2). pii: ijms19020619. doi: 10.3390/ijms19020619. Impact factor: Publication type: Paper in international publication Authors: Artuch, Rafael; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carrillo-Garcia, Julia; Cuadras, Daniel; Edo, Albert; Fernandez-Fernandez, Jose M; Garcia, Oscar; Gutierrez-Solana, Luis G; Izquierdo-Serra, Merce et al. DOI: 10.3390/ijms19020619
PMID: 29424939 Journal: MUSCLE & NERVE Year: 2018 Reference: Muscle & Nerve. 2018 Jul;58(1):157-60. doi: 10.1002/mus.26098. Impact factor: Publication type: Paper in international publication Authors: Armand-Ugon, Mercedes; Estevez, Raul; Gaitan-Penas, Hector; Macaya, Alfons et al. DOI: 10.1002/mus.26098
PMID: 29392776 Journal: MOVEMENT DISORDERS Year: 2018 Reference: Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Impact factor: Publication type: Paper in international publication Authors: Bettencourt, Conceicao; Davies, Ceri H; Efthymiou, Stephanie; Houlden, Henry; Kelly, Michy P; Kimura, Haruhide; Klein, Christine; Macaya, Alfons; Manole, Andreea; Mencacci, Niccolo E et al. DOI: 10.1002/mds.27286
PMID: 27153161 Journal: JOURNAL OF NEUROSURGERY Year: 2017 Reference: J Neurosurg. 2017 Feb;126(2):626-633. doi: 10.3171/2016.1.JNS151590. Epub 2016 May 6. Impact factor: Publication type: Paper in international publication Authors: Ferre, Alex; Macaya, Alfons; Martin, Bryn A; Poca, Maria-Antonia; Rovira, Alex; Sahuquillo, Juan; Urbizu, Aintzane et al. DOI: 10.3171/2016.1.JNS151590
PMID: 28057044 Journal: Orphanet Journal of Rare Diseases Year: 2017 Reference: Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5. Impact factor: Publication type: Paper in international publication Authors: Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Castellana, Ramon; Cottin, Vincent; Curatolo, Paolo; d'Augeres, Guillaume B; Dahlin, Maria; de Vries, Petrus J; Ferreira, Jose C et al. DOI: 10.1186/s13023-016-0553-5
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
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.
