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.
IP: Belen Perez Dueñas Collaborators: Maria Victoria Gonzalez Martinez, Ainara Salazar Villacorta, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 31/12/2024
IP: Ariadna Laguna Tuset Collaborators: Maria Victoria Gonzalez Martinez, Miquel Vila Bover, Marina Lorente Picón, Helena Xicoy Cortada, Daniela Samaniego Toro, Daniela Samaniego Toro, Sara Belmonte Calderon Funding agency: Instituto de Salud Carlos III Funding: 171820 Reference: PI21/01603 Duration: 01/01/2022 - 31/12/2024
PMID: 37653408 Journal: Orphanet Journal of Rare Diseases Year: 2023 Reference: Orphanet J Rare Dis. 2023 Aug 31;18(1):257. doi: 10.1186/s13023-023-02869-1. Impact factor: Publication type: Paper in international publication Authors: Chroscinska-Krawczyk, Magdalena; Chroscinska-Krawczyk, Magdalena; Cwyl, Maciej; Escolar, Maria Luisa; Jurecka, Agnieszka; Klopstock, Thomas; Klucken, Angelika; Lopez, Antonio; Lopez, Antonio; Mercimek-Andrews, Saadet et al. DOI: 10.1186/s13023-023-02869-1
PMID: 37679823 Journal: Genome Medicine Year: 2023 Reference: Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Impact factor: Publication type: Paper in international publication Authors: Aguilera-Albesa, Sergio; Airaldi, Ileana Anton; Alberti-Aguilo, M Antonia; Barredo, Estibaliz; Beltran, Sergi; Bullich, Gemma; Caceres-Marzal, Cristina; Casasnovas, Carlos; de Munain, Adolfo Lopez; Del Toro, Mireia et al. DOI: 10.1186/s13073-023-01214-2
PMID: 37853291 Journal: NEUROLOGICAL SCIENCES Year: 2023 Reference: Neurol Sci. 2023 Oct 19. doi: 10.1007/s10072-023-07101-3. Impact factor: Publication type: Paper in international publication Authors: Arnold, Susan; Berciano-Guerrero, Miguel-Angel; Bertini, Enrico; Boesch, Sylvia; Boespflug-Tanguy, Odile; Brungs, Daniel; Buizer, Annemieke I; Charoentum, Chaiyut; Clingan, Philip; Coward, Jermaine et al. DOI: 10.1007/s10072-023-07101-3
PMID: 37852602 Journal: JOURNAL OF NEURORADIOLOGY Year: 2023 Reference: J Neuroradiol. 2023 Oct 16:S0150-9861(23)00252-3. doi: 10.1016/j.neurad.2023.10.006. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Anna, Ardissone; Bertini, Enrico; Bevot, Andrea; Boesch, Sylvia; Boespflug-Tanguy, Odile; Borovecki, Fran; Buizer, Annemieke I; Danti, Federica R; Darling, Alejandra; de Koning, Tom J et al. DOI: 10.1016/j.neurad.2023.10.006
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: 34087982 Journal: Stem Cell Research Year: 2021 Reference: Stem Cell Res. 2021 May;53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15. Impact factor: 2.02 Publication type: Paper in international publication Authors: Erceg, Slaven, Espinos, Carmen, Perez-Duenas, Belen, Sanchez-Alcazar, Jose Antonio, Villalon-Garcia, Irene, Darling, Alejandra, Machuca, Candela, Correa-Vela, Marta, Garcia-Navas, Deyanira et al. DOI: 10.1016/j.scr.2021.102338
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: 5.59 Publication type: Review in international publication Authors: Cazurro-Gutierrez, Ana, Marce-Grau, Anna, Correa-Vela, Marta, Salazar, Ainara, Vanegas, Maria I, Macaya, Alfons, Bayes, Alex, Perez-Duenas, Belen et al. DOI: 10.1007/s12035-021-02391-0
PMID: 33801522 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Mar 2;22(5). pii: ijms22052505. doi: 10.3390/ijms22052505. Impact factor: 5.924 Publication type: Paper in international publication Authors: Sancho, Paula, Andres-Borderia, Amparo, Gorria-Redondo, Nerea, Llano, Katia, Martinez-Rubio, Dolores, Yoldi-Petri, Maria Eugenia, Blumkin, Luba, Rodriguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernandez-Murga, Leonor et al. DOI: 10.3390/ijms22052505
PMID: 33349592 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2021 Reference: Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20. Impact factor: 3.14 Publication type: Paper in international publication Authors: Riant, Florence, Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Duenas, Belen Perez, Sival, Deborah A et al. DOI: 10.1016/j.ejpn.2020.10.004
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: 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
PMID: 30799092 Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY Year: 2019 Reference: Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14. Impact factor: 2.496 Publication type: Paper in international publication Authors: Fryssira, Helen, Zouvelou, Vasiliki, Yubero, Delia, Apostolakopoulou, Loukia, Kokkinou, Eleftheria, Bilanakis, Manolis, Dalivigka, Zoi, Nikas, Ioannis, Kollia, Elissavet, Perez-Duenas, Belen et al. DOI: 10.1016/j.ejpn.2019.02.001
PMID: 30349988 Journal: JIMD reports Year: 2019 Reference: JIMD Rep. 2019;45:65-69. doi: 10.1007/8904_2018_138. Epub 2018 Oct 23. Impact factor: 0 Publication type: Paper in international publication Authors: van Kuilenburg, Andre B P, Meijer, Judith, Meinsma, Rutger, Perez-Duenas, Belen, Alders, Marielle, Bhuiyan, Zahurul A, Artuch, Rafael, Hennekam, Raoul C M et al. DOI: 10.1007/8904_2018_138
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: 3.61 Publication type: Paper in international publication Authors: Baide-Mairena, Heidy, Gaudo, Paula, Marti-Sanchez, Laura, Emperador, Sonia, Sanchez-Montanez, Angel, Alonso-Luengo, Olga, Correa, Marta, Grau, Anna Marce, Artuch, Rafael, Vazquez, Elida et al. DOI: 10.1016/j.ymgme.2019.01.001
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.
