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.
PMID: 35751841 Journal: MOLECULAR NUTRITION & FOOD RESEARCH Year: 2022 Reference: Mol Nutr Food Res. 2022 Jun 25:e2200125. doi: 10.1002/mnfr.202200125. Impact factor: 5.82 Publication type: Paper in international publication Authors: Hernandez, Cristina; Simo, Rafael; Selva, David M; Torres-Torronteras, Javier; Ramos-Perez, Lorena; Brianso-Llort, Laura; Simo-Servat, Olga et al. DOI: 10.1002/mnfr.202200125
PMID: 34042029 Journal: CURRENT MEDICINAL CHEMISTRY Year: 2022 Reference: Curr Med Chem. 2022;29(12):2189-2199. doi: 10.2174/0929867328666210526114417. Impact factor: 4.53 Publication type: Paper in international publication Authors: Simo-Servat, Olga, Ramos, Hugo, Bogdanov, Patricia, Garcia-Ramirez, Marta, Huerta, Jordi, Hernandez, Cristina, Simo, Rafael et al. DOI: 10.2174/0929867328666210526114417
PMID: 35203674 Journal: Biomedicines Year: 2022 Reference: Biomedicines. 2022 Feb 16;10(2). pii: biomedicines10020465. doi: 10.3390/biomedicines10020465. Impact factor: 6.081 Publication type: Paper in international publication Authors: Hernandez, Cristina, Simo, Rafael, Huerta, Jordi, Bogdanov, Patricia, Ramos, Hugo, Valeri, Marta, Deas-Just, Anna et al. DOI: 10.3390/biomedicines10020465
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.
