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: 37857429 Journal: EUROPEAN RESPIRATORY JOURNAL Year: 2023 Reference: Eur Respir J. 2023 Oct 19;62(4):2300262. doi: 10.1183/13993003.00262-2023. Print 2023 Oct. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Adam, Margaret P; Antoniou, Katerina; Aviles, Victoria; Bachs, Anna; Bermudo, Guadalupe; Blau, Hannah; Bonella, Francesco; Carmody, Leigh C; Chan, Lauren E; Gargano, Michael A et al. DOI: 10.1183/13993003.00262-2023
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: 37963467 Journal: Med (New York, N.Y.) Year: 2023 Reference: Med. 2023 Nov 9:S2666-6340(23)00334-3. doi: 10.1016/j.medj.2023.10.003. Impact factor: Publication type: Paper in international publication Authors: Adam, Margaret P; Agarwal, Neeraj; Barnicle, Alan; Blau, Hannah; Carmody, Leigh C; Chan, Lauren E; Chi, Kim N; de Bono, Johann S; Fizazi, Karim; Gargano, Michael A et al. DOI: 10.1016/j.medj.2023.10.003
PMID: 37975229 Journal: HYPERTENSION Year: 2023 Reference: Hypertension. 2023 Nov 17. doi: 10.1161/HYPERTENSIONAHA.123.21618. Impact factor: Publication type: Paper in international publication Authors: Adam, Margaret P; Avolio, Alberto P; Barbosa, Eduardo C D; Baulmann, Johannes; Bianchini, Elisabetta; Blau, Hannah; Boutouyrie, Pierre; Bruno, Rosa Maria; Carmody, Leigh C; Chan, Lauren E et al. DOI: 10.1161/HYPERTENSIONAHA.123.21618
PMID: 32677093 Journal: JOURNAL OF INHERITED METABOLIC DISEASE Year: 2021 Reference: J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. Impact factor: 4.982 Publication type: Paper in international publication Authors: Artuch, R, Dionisi-Vici, C, Gonzalez-Gutierrez-Solana, L, Correa-Vela, M, Ortigoza-Escobar, J D, Sanchez-Montanez, A, Vazquez, E, Delgado, I, Aguilera-Albesa, S, Yoldi, M E et al. DOI: 10.1002/jimd.12288
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: 10.338 Publication type: Letter whit IF Authors: Agolini, Emanuele, Masnada, Silvia, Martinelli, Diego, Correa-Vela, Marta, Parazzini, Cecilia, Veggiotti, Pierangelo, Perez-Duenas, Belen, Tonduti, Davide, Marce-Grau, Anna, Baide-Mairena, Heidy et al. DOI: 10.1002/mds.28492
PMID: 33585677 Journal: Neurology-Genetics Year: 2021 Reference: Neurol Genet. 2021 Jan 21;7(1):e543. doi: 10.1212/NXG.0000000000000543. eCollection 2021 Feb. Impact factor: 3.485 Publication type: Letter whit IF Authors: Jesus, Silvia, Hinarejos, Isabel, Carrillo, Fatima, Martinez-Rubio, Dolores, Macias-Garcia, Daniel, Sanchez-Monteagudo, Ana, Adarmes, Astrid, Lupo, Vincenzo, Perez-Duenas, Belen, Mir, Pablo et al. DOI: 10.1212/NXG.0000000000000543
PMID: 33387010 Journal: JOURNAL OF NEUROLOGY Year: 2021 Reference: J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. Impact factor: 4.849 Publication type: Paper in international publication Authors: Grimalt, Maria Antonia, Nogales, Gisela, Alvarez Molinero, Mireia, Ghandour, Diana, Gomez Garcia-de la Banda, Marta, Fernandez Ramos, Joaquin, Iglesias Escalera, Gema, Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura et al. DOI: 10.1007/s00415-020-10339-y
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: 2.508 Publication type: Paper in international publication Authors: Visa-Rene, Nuria, Raspall-Chaure, Miquel, Paredes-Carmona, Fernando, Coromina, Julia Sala, Macaya-Ruiz, Alfons et al. DOI: 10.1016/j.yebeh.2020.107067
PMID: 31898846 Journal: HUMAN MUTATION Year: 2020 Reference: Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Impact factor: 4.124 Publication type: Paper in international publication Authors: Billette de Villemeur, Thierry, Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta et al. DOI: 10.1002/humu.23975
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: 4.36 Publication type: Letter or abstract Authors: Marce-Grau, Anna, Correa, Marta, Vanegas, Maria Isabel, Munoz-Ruiz, Teresa, Ferrer-Aparicio, Silvia, Perez-Duenas, Belen, Macaya, Alfons, Baide, Heidy et al. DOI: 10.1016/j.parkreldis.2019.01.004
PMID: 30634555 Journal: Journal of Clinical Medicine Year: 2019 Reference: J Clin Med. 2019 Jan 10;8(1). pii: jcm8010068. doi: 10.3390/jcm8010068. Impact factor: 5.688 Publication type: Paper in international publication Authors: Jou, Cristina, Ortigoza-Escobar, Juan D, O'Callaghan, Maria M, Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Duenas, Belen, Pineda, Mercedes, Codina, Anna, Arjona, Cesar et al. DOI: 10.3390/jcm8010068
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.
