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: 33452703 Journal: ACTA NEUROLOGICA SCANDINAVICA Year: 2021 Reference: Acta Neurol Scand. 2021 Apr;143(4):407-412. doi: 10.1111/ane.13389. Epub 2021 Jan 15. Impact factor: Publication type: Paper in international publication Authors: Abraira, Laura; Ballve, Alejandro; Campos, Daniel; Fonseca, Elena; Llaurado, Arnau; Quintana, Manuel; Raspall, Miquel; Salas-Puig, Javier; Santamarina, Estevo; Toledo, Manuel et al. DOI: 10.1111/ane.13389
PMID: 33352116 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2021 Reference: Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. Impact factor: Publication type: Paper in international publication Authors: Antunes, Lilian; Ashley-Koch, Allison; Brockmeyer, Douglas; Burnetti-Pierri, Nicola; Cappuccio, Gerarda; Conrad, Donald; Cruchaga, Carlos; Dobbs, Matthew B; Gannon, Stephen R; Garrett, Melanie E et al. DOI: 10.1016/j.ajhg.2020.12.001
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: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Alvarez Molinero, Mireia; Camacho, Ana; Cancho-Candela, Ramon; Costa-Comellas, Laura; Domingo Jimenez, Maria Rosario; Fernandez Ramos, Joaquin; Fernandez-Garcia, Miguel A; Garcia-Campos, Oscar; Garcia-Romero, Mar et al. DOI: 10.1007/s00415-020-10339-y
PMID: 33365252 Journal: Molecular Genetics and Metabolism Reports Year: 2021 Reference: Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar. Impact factor: Publication type: Paper in international publication Authors: Arranz, Jose Antonio; Carnicer, Clara; Carreno, Lidia; de Las Heras, Javier; Del Toro, Mireia; Garcia-Arumi, Elena; Gort, Laura; Lasa-Aranzasti, Amaia; Miguel, Lucia Dougherty-de; Sala-Coromina, Julia et al. DOI: 10.1016/j.ymgmr.2020.100690
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: 30642748 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2019 Reference: Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5. Impact factor: Publication type: Paper in international publication Authors: Alonso-Luengo, Olga; Artuch, Rafael; Baide-Mairena, Heidy; Bayona-Bafaluy, Maria Pilar; Correa, Marta; Del Toro, Mireia; Emperador, Sonia; Garrido-Perez, Nuria; Gaudo, Paula; Grau, Anna Marce et al. DOI: 10.1016/j.ymgme.2019.01.001
PMID: 30478917 Journal: EPILEPSIA Year: 2019 Reference: Epilepsia. 2019 Jan;60(1):139-148. doi: 10.1111/epi.14609. Epub 2018 Nov 26. Impact factor: Publication type: Paper in international publication Authors: Felipe-Rucian, Ana; Gomis-Perez, Carolina; Lopez-Laso, Eduardo; Macaya, Alfons; Malo, Covadonga; Marce-Grau, Anna; Raspall-Chaure, Miquel; Urrutia, Janire; Villarroel, Alvaro et al. DOI: 10.1111/epi.14609
PMID: 30472769 Journal: LIVER TRANSPLANTATION Year: 2019 Reference: Liver Transpl. 2019 Jan;25(1):178-179. doi: 10.1002/lt.25389. Impact factor: Publication type: Letter or abstract Authors: Bilbao, Itxarone; Charco, Ramon; Del Toro, Mireia; Garcia, Angels; Garcia, Camila; Juamperez, Javier; Martin de Carpi, Javier; Meavilla, Silvia; Molera, Cristina; Nunez, Raquel et al. DOI: 10.1002/lt.25389
PMID: 31745482 Journal: Movement disorders clinical practice Year: 2019 Reference: Mov Disord Clin Pract. 2019 Oct 25;6(8):704-707. doi: 10.1002/mdc3.12842. eCollection 2019 Nov. Impact factor: 0 Publication type: Letter or abstract Authors: Martins, Joana, Darling, Alejandra, Espinos, Carmen, Marti, Maria Jose, Duenas, Belen Perez, Temudo, Teresa, Garrido, Cristina et al. DOI: 10.1002/mdc3.12842
PMID: 29558773 Journal: NEUROPEDIATRICS Year: 2018 Reference: Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20. Impact factor: 1.605 Publication type: Paper in international publication Authors: Flotats-Bastardas, Marina, Ebrahimi-Fakhari, Daniel, Gortner, Ludwig, Zemlin, Michael, Macaya-Ruiz, Alfons, Meyer, Sascha, Poryo, Martin et al. DOI: 10.1055/s-0038-1637738
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: 1.605 Publication type: Paper in international publication Authors: Lohmann, Katja, Macaya, Alfons, Munell, Francina, Hebert, Eva, Flotats-Bastardas, Marina, Raspall-Chaure, Miquel et al. DOI: 10.1055/s-0038-1626709
PMID: 29382362 Journal: Orphanet Journal of Rare Diseases Year: 2018 Reference: Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x. Impact factor: 3.607 Publication type: Paper in international publication Authors: Marti-Sanchez, L, Ortigoza-Escobar, J D, Darling, A, Villaronga, M, Baide, H, Molero-Luis, M, Batllori, M, Vanegas, M I, Muchart, J, Aquino, L et al. DOI: 10.1186/s13023-018-0758-x
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.
