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 group focuses on the study of pathogenic mechanisms of the mitochondrial diseases, either caused by mutations in nuclear DNA or mitochondrial DNA, associated to diverse neuromuscular syndromes. Specifically, our active research lines are devoted to the study of diseases caused by dysfunctional mitochondrial DNA replication and maintenance, and mitochondrial protein synthesis. We put special efforts on finding and testing potential therapy approaches through preclinical investigation using in vitro and in vivo models of these diseases. We are also working on developing new approaches for genetic diagnosis for these disorders, as well as on testing novel genetic variants for potential pathogenicity trough functional studies. In addition, we are also working on the study of other metabolic neuromuscular disorders, such as the glycogenosis type V (McArdle Disease) and other muscle glycogenoses. This research line includes the coordination of the European patient registry EUROMAC.
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IP: Ramon Martí Seves Collaborators: Juan Luis Restrepo Vera Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 74452.89 Reference: 2024 FI-1 00388 Duration: 01/07/2024 - 30/06/2025
IP: Yolanda Cámara Navarro Collaborators: Miguel Molina Berenguer, Elena García Arumí, Javier Francisco Ramón Pasías, Andrea Férriz Gordillo, Izaskun Izagirre Urizar Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 275000 Reference: PID2023-147668OB-I00 Duration: 01/09/2024 - 31/08/2027
IP: Yolanda Cámara Navarro Collaborators: Izaskun Izagirre Urizar Funding agency: Fundació Institut de Recerca HUVH Funding: 102820.06 Reference: VHIR-PHD-2023-011 Duration: 05/02/2024 - 04/02/2028
IP: Ramon Martí Seves Collaborators: Juan Luis Restrepo Vera, Laia Perez Lasarte Funding agency: Fundació Institut de Recerca HUVH Funding: 35000 Reference: CARLESM/RAMON_MS Duration: 30/06/2023 - 29/06/2024
PMID: 36959467 Journal: JOURNAL OF HUMAN GENETICS Year: 2023 Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. Impact factor: Publication type: Paper in international publication Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al. DOI: 10.1038/s10038-023-01144-2
PMID: 37356622 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2023 Reference: J Mol Diagn. 2023 Jun 23:S1525-1578(23)00134-4. doi: 10.1016/j.jmoldx.2023.06.006. Impact factor: Publication type: Paper in international publication Authors: Antolin, Maria; Blasco-Perez, Laura; Camprodon-Gomez, Maria; Garcia-Arumi, Elena; Iranzo-Nuez, Leticia; Lopez-Ortega, Ricard; Martinez-Cruz, Desiree; Tenes, Anna; Tizzano, Eduardo F et al. DOI: 10.1016/j.jmoldx.2023.06.006
PMID: 37635958 Journal: Frontiers in Endocrinology Year: 2023 Reference: Front Endocrinol (Lausanne). 2023 Aug 10;14:1208020. doi: 10.3389/fendo.2023.1208020. eCollection 2023. Impact factor: Publication type: Paper in international publication Authors: Arque, Anais; Balsells, Nuria; Garcia-Aguilera, Esther; Gutierrez-Carrasquilla, Liliana; Hernandez, Cristina; Lecube, Albert; Manzanares, Jose Maria; Marti, Raquel; Mateu, Magda; Mizab, Chadia et al. DOI: 10.3389/fendo.2023.1208020
PMID: 37216904 Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Year: 2023 Reference: J Clin Endocrinol Metab. 2023 May 22:dgad280. doi: 10.1210/clinem/dgad280. Impact factor: Publication type: Paper in international publication Authors: Antolin, Maria; Baz-Redon, Noelia; Caimari, Maria; Camats-Tarruella, Nuria; Campos, Ariadna; Clemente, Maria; Cobo, Patricia; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Masas, Miriam et al. DOI: 10.1210/clinem/dgad280
PMID: 34919756 Journal: FASEB JOURNAL Year: 2022 Reference: FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR. Impact factor: 5.192 Publication type: Paper in international publication Authors: Molina-Berenguer, Miguel; Vila-Julia, Ferran; Perez-Ramos, Sandra; Salcedo-Allende, Maria Teresa; Camara, Yolanda; Torres-Torronteras, Javier; Marti, Ramon et al. DOI: 10.1096/fj.202100819RRR
PMID: 34988976 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2022 Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5. Impact factor: 5.449 Publication type: Paper in international publication Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al. DOI: 10.1111/dmcn.15125
PMID: 35152335 Journal: JOURNAL OF NEUROLOGY Year: 2022 Reference: J Neurol. 2022 Jul;269(7):3761-3769. doi: 10.1007/s00415-022-11005-1. Epub 2022 Feb 13. Impact factor: 4.849 Publication type: Paper in international publication Authors: Coscojuela, P; Fonseca, E; Quintana, M; Sarria-Estrada, S; Santamarina, E; Abraira, L; Sueiras, M; Thonon, V; Alvarez-Sabin, J; Toledo, M et al. DOI: 10.1007/s00415-022-11005-1
PMID: 35739187 Journal: Communications Biology Year: 2022 Reference: Commun Biol. 2022 Jun 23;5(1):620. doi: 10.1038/s42003-022-03568-6. Impact factor: 6.268 Publication type: Paper in international publication Authors: Molina-Granada, David; Gonzalez-Vioque, Emiliano; Dibley, Marris G; Cabrera-Perez, Raquel; Vallbona-Garcia, Antoni; Torres-Torronteras, Javier; Sazanov, Leonid A; Ryan, Michael T; Camara, Yolanda; Marti, Ramon et al. DOI: 10.1038/s42003-022-03568-6
PMID: 35052414 Journal: Genes Year: 2021 Reference: Genes (Basel). 2021 Dec 28;13(1). pii: genes13010074. doi: 10.3390/genes13010074. Impact factor: 4.096 Publication type: Review in international publication Authors: Pinos, Tomas, Villarreal-Salazar, Monica, Brull, Astrid, Nogales-Gadea, Gisela, Andreu, Antoni L, Martin, Miguel A, Arenas, Joaquin, Santalla, Alfredo, Lucia, Alejandro, Vissing, John et al. DOI: 10.3390/genes13010074
PMID: 34944588 Journal: Biomedicines Year: 2021 Reference: Biomedicines. 2021 Nov 26;9(12). pii: biomedicines9121772. doi: 10.3390/biomedicines9121772. Impact factor: 6.081 Publication type: Paper in international publication Authors: Ramos, Hugo, Bogdanov, Patricia, Sabater, David, Huerta, Jordi, Valeri, Marta, Hernandez, Cristina, Simo, Rafael et al. DOI: 10.3390/biomedicines9121772
PMID: 34440130 Journal: Biomedicines Year: 2021 Reference: Biomedicines. 2021 Jul 31;9(8). pii: biomedicines9080926. doi: 10.3390/biomedicines9080926. Impact factor: 6.081 Publication type: Paper in international publication Authors: Simo, Rafael, Bogdanov, Patricia, Ramos, Hugo, Huerta, Jordi, Simo-Servat, Olga, Hernandez, Cristina et al. DOI: 10.3390/biomedicines9080926
PMID: 34208592 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Jun 16;22(12). pii: ijms22126447. doi: 10.3390/ijms22126447. Impact factor: 5.924 Publication type: Review in international publication Authors: Camara, Yolanda, Ramon, Javier, Vila-Julia, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melia, Maria Jesus, Garcia-Arumi, Elena, Torres-Torronteras, Javier, Marti, Ramon et al. DOI: 10.3390/ijms22126447
PMID: 32927585 Journal: Antioxidants Year: 2020 Reference: Antioxidants (Basel). 2020 Sep 10;9(9). pii: antiox9090846. doi: 10.3390/antiox9090846. Impact factor: 5.014 Publication type: Paper in international publication Authors: Ramos, Hugo, Bogdanov, Patricia, Sampedro, Joel, Huerta, Jordi, Simo, Rafael, Hernandez, Cristina et al. DOI: 10.3390/antiox9090846
PMID: 31848135 Journal: Disease Models & Mechanisms Year: 2020 Reference: Dis Model Mech. 2020 Jan 13;13(1). pii: dmm.043281. doi: 10.1242/dmm.043281. Impact factor: 4.651 Publication type: Paper in international publication Authors: Tarraso, Guillermo, Real-Martinez, Alberto, Pares, Marta, Romero-Cortadellas, Lidia, Puigros, Laura, de Luna, Noemi, Brull, Astrid, Martin, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro et al. DOI: 10.1242/dmm.043281
PMID: 31694971 Journal: JOURNAL OF CLINICAL MICROBIOLOGY Year: 2019 Reference: J Clin Microbiol. 2019 Dec 23;58(1). pii: JCM.01815-19. doi: 10.1128/JCM.01815-19. Print 2019 Dec 23. Impact factor: 4.959 Publication type: Paper in international publication Authors: Quer, Josep, Casis-Saez, Ernesto, Rodriguez-Frias, Francisco, Esteban-Mur, Rafael, Buti-Ferret, Maria, Ferrer-Costa, Roser, Lopez-Martinez, Rosa, Arias-Garcia, Andrea, Rodriguez-Algarra, Francisco, Castellote-Belles, Laura et al. DOI: 10.1128/JCM.01815-19
PMID: 31351931 Journal: EBioMedicine Year: 2019 Reference: EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24. Impact factor: 6.68 Publication type: Paper in international publication Authors: Molina-Granada, David, Vila-Julia, Ferran, Jimenez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Marti, Ramon, Camara, Yolanda, Blazquez-Bermejo, Cora et al. DOI: 10.1016/j.ebiom.2019.07.042
PMID: 30914683 Journal: Scientific Reports Year: 2019 Reference: Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8. Impact factor: 4.011 Publication type: Paper in international publication Authors: Real-Martinez, Alberto, Brull, Astrid, Huerta, Jordi, Tarraso, Guillermo, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Andreu, Antoni L, Nogales-Gadea, Gisela, Vissing, John et al. DOI: 10.1038/s41598-019-41414-8
PMID: 30848931 Journal: FASEB JOURNAL Year: 2019 Reference: FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. Impact factor: 5.391 Publication type: Paper in international publication Authors: Blazquez-Bermejo, Cora, Carreno-Gago, Lidia, Molina-Granada, David, Aguirre, Josu, Ramon, Javier, Torres-Torronteras, Javier, Cabrera-Perez, Raquel, Martin, Miguel Angel, Dominguez-Gonzalez, Cristina, de la Cruz, Xavier et al. DOI: 10.1096/fj.201801591R
PMID: 31008281 Journal: European stroke journal Year: 2016 Reference: Eur Stroke J. 2016 Sep;1(3):205-212. doi: 10.1177/2396987316654337. Epub 2016 Jun 21. Impact factor: 0 Publication type: Paper in international publication Authors: Bustamante, Alejandro, Diaz-Fernandez, Belen, Pagola, Jorge, Blanco-Grau, Albert, Rubiera, Marta, Penalba, Anna, Garcia-Berrocoso, Teresa, Montaner, Joan et al. DOI: 10.1177/2396987316654337
PhD student: Miguel Molina Berenguer Director/s: Javier Torres Torronteras, Ramon Martí Seves University: Universitat Autònoma de Barcelona Year: 2023
PhD student: Ferran Vila Julià Director/s: Ramon Martí Seves, Javier Torres Torronteras University: Universidad Autònoma de Barcelona Year: 2021
PhD student: David Molina Granada Director/s: Ramon Martí Seves, Yolanda Cámara Navarro University: Universidad Autònoma de Barcelona Year: 2021
PhD student: Guillermo Tarrasó Urios, Guillermo Tarrasó Urios, Guillermo Tarrasó Urios Director/s: Tomàs Pinós Figueras University: Universidad Autònoma de Barcelona Year: 2020
PhD student: Alberto Real Martinez, Alberto Real Martinez Director/s: Tomàs Pinós Figueras University: Universidad Autònoma de Barcelona Year: 2020
PhD student: Cora Blazquez Bermejo Director/s: Yolanda Cámara Navarro, Ramon Martí Seves University: Universidad Autònoma de Barcelona Year: 2019
PhD student: Raquel Cabrera Perez Director/s: Ramon Martí Seves University: Universidad Autònoma de Barcelona Year: 2017
PhD student: Lidia Carreño Gago, Lidia Carreño Gago Director/s: Elena García Arumí University: Universidad Autònoma de Barcelona Year: 2017
PhD student: Astrid Brull Cañagueral Director/s: Tomàs Pinós Figueras, Antonio Luis Andreu Périz University: Universidad Autònoma de Barcelona Year: 2015
PhD student: Marc Cuadros Arasa, Marc Cuadros Arasa Director/s: Elena García Arumí University: Universidad Autònoma de Barcelona Year: 2013
PhD student: Javier Torres Torronteras Director/s: Ramón Martí Seves, Jordi Barquinero Mañez University: Universitat Autònoma de Barcelona Year: 2011
PhD student: Maria del Carmen Lara Castillo Director/s: Ramon Martí Seves University: Universitat de Barcelona Year: 2008
PhD student: Gisela Nogales Gadea Director/s: Antonio Luis Andreu Périz, Ramon Martí Seves University: Universitat de Barcelona Year: 2008
PhD student: Ricardo Gonzalo Sanz Director/s: University: Universidad Autònoma de Barcelona Year: 2005
PhD student: Cristòfol Vives Bauzà Director/s: Antonio Luis Andreu Périz, Elena García Arumí University: Universitat de Barcelona Year: 2004
PhD student: Josep Gamez Carbonell Director/s: University: Universidad Autònoma de Barcelona Year: 2002
PhD student: Lluís Palenzuela Díaz Director/s: University: Universidad Autònoma de Barcelona Year: 2002
The newly developed analytical workflow could in the future be introduced as a comprehensive diagnostic test for patients with mitochondrial diseases.
Check the current rates of the Neuromuscular and Mitochondrial Pathology research group.
