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.
IP: -
IP: Maria Jose Soler Romeo Collaborators: Marina Lopez Martinez, Jordi Vilardell Vilà, Irene Martinez Diaz, Sheila Bermejo Garcia, Vicent Muñoz Vaño, Carmen Llorens Cebriá, M Antonieta Azancot Rivero, Enzamaría Fidilio Meli, Juan Carlos León Román, Sara Nuñez Delgado Funding agency: Instituto de Salud Carlos III Funding: 190000 Reference: PI24/01510 Duration: 01/01/2025 - 31/12/2027
IP: Ramon Martí Seves Collaborators: Mª Jesus Melia Grimal, Pau Mollá Zaragozá, Javier Francisco Ramón Pasías, Juan Luis Restrepo Vera Funding agency: Instituto de Salud Carlos III Funding: 208750 Reference: PI24/00838 Duration: 01/01/2025 - 31/12/2027
IP: Ramon Martí Seves Collaborators: - Funding agency: Association Française contre les Myopathies (AFM) Funding: 171100 Reference: AFM-TÉLÉTHON/MITOCHONDRIAL-MEDICINECALL/2023/MARTÍ Duration: 01/01/2025 - 31/12/2026
IP: Yolanda Cámara Navarro Collaborators: 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 - 31/12/2027
PhD student: Javier Francisco Ramón Pasías, Javier Francisco Ramón Pasías Director/s: Ramon Martí Seves, Yolanda Cámara Navarro University: Universitat Autònoma de Barcelona Year: 2024
PhD student: Laura Blasco Perez Director/s: Elena García Arumí University: Universitat Autònoma de Barcelona Year: 2023
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, Antonio Luis Andreu Périz 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, Antonio Luis Andreu Périz 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 clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).
The meeting was an opportunity to get to know projects from both institutions and to promote interaction between professionals.
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.
