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: 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: 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: 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: 5.899 Publication type: Paper in international publication Authors: Roldan, Susana, Artuch, Rafael, Velazquez-Fragua, Ramon, Macaya, Alfons, Perez-Cerda, Celia, Perez-Duenas, Belen, Perez, Belen, Serrano, Mercedes, Aguilera-Albesa, Sergio, Gutierrez-Solana, Luis G et al. DOI: 10.1136/jmedgenet-2018-105588
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.
