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: 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: 35782747 Journal: Computational and Structural Biotechnology Journal Year: 2022 Reference: Comput Struct Biotechnol J. 2022 Jun 18;20:3257-3267. doi: 10.1016/j.csbj.2022.06.022. eCollection 2022. Impact factor: 7.271 Publication type: Review in international publication Authors: Gomez-Andres, David; Rausell, Estrella; Pulido-Valdeolivas, Irene; Olivares, Felipe; Zanin, Massimiliano et al. DOI: 10.1016/j.csbj.2022.06.022
PMID: 35820636 Journal: Neurologia (Barcelona, Spain) Year: 2022 Reference: Neurologia (Engl Ed). 2022 Jul 9. pii: S2173-5808(22)00071-2. doi: 10.1016/j.nrleng.2020.09.005. Impact factor: 0 Publication type: Paper in international publication Authors: Ibanez, Laura, Mir, Pablo, Forcadell, Eduard, Garcia-Delgar, Blanca, Nicolau, Rosa, Perez-Vigil, Ana, Cordovilla, Carlos, Lazaro, Luisa, Correa-Vela, Marta, Madruga-Garrido, Marcos et al. DOI: 10.1016/j.nrleng.2020.09.005
PMID: 35723607 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2022 Reference: Dev Med Child Neurol. 2022 Jun 20. doi: 10.1111/dmcn.15298. Impact factor: 5.449 Publication type: Paper in international publication Authors: Correa-Vela, Marta, Carvalho, Joao, Ferrero-Turrion, Julia, Cazurro-Gutierrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Marce-Grau, Anna, Moreno, Antonio, Macaya-Ruiz, Alfons, Perez-Duenas, Belen et al. DOI: 10.1111/dmcn.15298
PMID: 33738294 Journal: Frontiers in Medicine Year: 2021 Reference: Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. eCollection 2021. Impact factor: Publication type: Paper in international publication Authors: Bellettato, Cinzia M; Belmatoug, Nadia; Cefalo, Graziella; Del Toro, Mireia; Francisco, Rita; Hahn, Andreas; Kiec-Wilk, Beata; Lampe, Christina; Lauridsen, Anne-Grethe; Montanari, Chiara et al. DOI: 10.3389/fmed.2021.652358
PMID: 33606314 Journal: MOVEMENT DISORDERS Year: 2021 Reference: Mov Disord. 2021 Apr;36(4):1038-1040. doi: 10.1002/mds.28492. Epub 2021 Feb 19. Impact factor: Publication type: Letter whit IF Authors: Agolini, Emanuele; Baide-Mairena, Heidy; Correa-Vela, Marta; Marce-Grau, Anna; Martinelli, Diego; Masnada, Silvia; Parazzini, Cecilia; Perez-Duenas, Belen; Tonduti, Davide; Veggiotti, Pierangelo et al. DOI: 10.1002/mds.28492
PMID: 33538188 Journal: Expert Review of Neurotherapeutics Year: 2021 Reference: Expert Rev Neurother. 2021 Nov;21(11):1275-1282. doi: 10.1080/14737175.2021.1885374. Epub 2021 Mar 4. Impact factor: Publication type: Paper in international publication Authors: Andersen, Brian Nauheimer; Auvin, Stephane; Del Toro, Mireia; Haliloglu, Goknur; Huidekoper, Hidde H; Kravljanac, Ruzica; Mazurkiewicz-Beldzinska, Maria; Muhlhausen, Chris; Prpic, Igor; Striano, Pasquale et al. DOI: 10.1080/14737175.2021.1885374
PMID: 33510243 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Jan 28;11(1):2420. doi: 10.1038/s41598-021-81802-7. Impact factor: Publication type: Paper in international publication Authors: Delgado, Ignacio; Fernandez de Gamarra-Oca, Lexuri; Junque, Carme; Macaya, Alfons; Ojeda, Natalia; Poca, Maria A; Solana, Elisabeth; Soria-Pastor, Sara; Vazquez, Elida; Zubiaurre-Elorza, Leire et al. DOI: 10.1038/s41598-021-81802-7
PMID: 33022436 Journal: PARKINSONISM & RELATED DISORDERS Year: 2020 Reference: Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Impact factor: 3.926 Publication type: Paper in international publication Authors: Rodriguez, Carla, Toledo, Laura, Fernandez-Ramos, Joaquin Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Marti, Maria Jose, Eiris, Jesus, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena et al. DOI: 10.1016/j.parkreldis.2020.09.023
PMID: 32875335 Journal: BRAIN Year: 2020 Reference: Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Impact factor: 11.337 Publication type: Paper in international publication Authors: Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andres, David, Munell, Francina et al. DOI: 10.1093/brain/awaa228
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: 3.66 Publication type: Paper in international publication Authors: Marce-Grau, Anna, Hernandez-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernandez-Rodriguez, Sandra, Tello, Cristina, Ramirez-Jimenez, Laura, Perez, Belen, Sanchez-Montanez, Angel, Macaya, Alfons et al. DOI: 10.1002/acn3.51095
PMID: 32472658 Journal: MOVEMENT DISORDERS Year: 2020 Reference: Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30. Impact factor: 8.679 Publication type: Paper in international publication Authors: Ng, Joanne, Cortes-Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M, Heales, Simon J R, Pope, Simon, Biassoni, Lorenzo et al. DOI: 10.1002/mds.28063
PMID: 30767057 Journal: JOURNAL OF NEUROLOGY Year: 2019 Reference: J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14. Impact factor: Publication type: Paper in international publication Authors: Abicht, Angela; Dusl, Marina; Gratacos, Margarida; Lochmuller, Hanns; Macaya, Alfons; Moreno, Teresa; Munell, Francina; Senderek, Jan; Strom, Tim M et al. DOI: 10.1007/s00415-019-09239-7
PMID: 30739181 Journal: JOURNAL OF NEUROLOGY Year: 2019 Reference: J Neurol. 2019 Apr;266(4):990-997. doi: 10.1007/s00415-019-09226-y. Epub 2019 Feb 9. Impact factor: Publication type: Paper in international publication Authors: Blanco, Igor; Busch, David R; Camps-Renom, Pol; Cotta, Gianluca; Delgado-Mederos, Raquel; Durduran, Turgut; Giacalone, Giacomo; Gregori-Pla, Clara; Marti-Fabregas, Joan; Martinez-Domeno, Alejandro et al. DOI: 10.1007/s00415-019-09226-y
PMID: 30528227 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2019 Reference: Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24. Impact factor: Publication type: Paper in international publication Authors: Alexanderian, David; Bhargava, Parul; Cleary, Maureen; Del Toro, Mireia; Gasperini, Serena; Kerr, Douglas; Muenzer, Joseph; Muschol, Nicole; Sevin, Caroline; Shapiro, Elsa et al. DOI: 10.1016/j.ymgme.2018.10.006
PMID: 30642807 Journal: PARKINSONISM & RELATED DISORDERS Year: 2019 Reference: Parkinsonism Relat Disord. 2019 Apr;61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8. Impact factor: Publication type: Letter or abstract Authors: Baide, Heidy; Correa, Marta; Ferrer-Aparicio, Silvia; Macaya, Alfons; Marce-Grau, Anna; Munoz-Ruiz, Teresa; Perez-Duenas, Belen; Vanegas, Maria Isabel et al. DOI: 10.1016/j.parkreldis.2019.01.004
PMID: 28889091 Journal: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Year: 2018 Reference: J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9. Impact factor: Publication type: Paper in international publication Authors: Alshaikh, Nahla; Berardinelli, Angela; Bertini, Enrico; Bonnemann, Carsten G; Brisca, Giacomo; Bruno, Claudio; Carlier, Robert-Yves; D'Amico, Adele; Dastgir, Jahannaz; Diaz-Manera, Jordi et al. DOI: 10.1136/jnnp-2017-316736
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
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.
