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: 38108358 Journal: Journal of neuromuscular diseases Year: 2023 Reference: J Neuromuscul Dis. 2023 Dec 15. doi: 10.3233/JND-230027. Impact factor: Publication type: Paper in international publication Authors: Bhai, Salman; Bloemen, Bart; Canalda-Baltrons, Aleix; Coppers, Jacqueline; Cup, Edith; d'Enfert, Christophe; Groothuis, Jan T; Karazi, Walaa; Lokken, Nicoline; Maas, Daphne et al. DOI: 10.3233/JND-230027
PMID: 38110588 Journal: ANNALS OF HEMATOLOGY Year: 2023 Reference: Ann Hematol. 2023 Dec 19. doi: 10.1007/s00277-023-05582-y. Impact factor: Publication type: Paper in international publication Authors: Aguiar, Eliana; Algarra, Lorenzo; Amigo, Maria Luz; Bergua, Juan Miguel; Bhai, Salman; Bloemen, Bart; Brioso, Joana; Caballero, Mar; Celebrin, Lucia; Cichocka, Edyta et al. DOI: 10.1007/s00277-023-05582-y
PMID: 35453428 Journal: Antioxidants Year: 2022 Reference: Antioxidants (Basel). 2022 Apr 8;11(4). pii: antiox11040741. doi: 10.3390/antiox11040741. Impact factor: Publication type: Paper in international publication Authors: Blazquez, Alberto; Bujan, Nuria; Carnicer, Clara; Cortes, Ana Belen; Delmiro, Aitor; Fernandez-Moreno, Miguel Angel; Garcia-Arumi, Elena; Garcia-Garcia, Francesc J; Garrabou, Gloria; Gonzalez, Cristina et al. DOI: 10.3390/antiox11040741
PMID: 35203514 Journal: Biomedicines Year: 2022 Reference: Biomedicines. 2022 Jan 28;10(2). pii: biomedicines10020304. doi: 10.3390/biomedicines10020304. Impact factor: Publication type: Paper in international publication Authors: Brolin, Camilla; Hornsyld, Tessa M; Krag, Thomas O; Nielsen, Tue L; Pinos, Tomas; Vissing, John et al. DOI: 10.3390/biomedicines10020304
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: Publication type: Paper in international publication Authors: Baide-Mairena, Heidy; Cazurro-Gutierrez, Ana; Delgado, Ignacio; Garcia-Arumi, Elena; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Marti-Sanchez, Laura; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Sanchez-Montanez, Angel et al. DOI: 10.1111/dmcn.15125
PMID: 34919756 Journal: FASEB JOURNAL Year: 2022 Reference: FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR. Impact factor: Publication type: Paper in international publication Authors: Camara, Yolanda; Marti, Ramon; Molina-Berenguer, Miguel; Perez-Ramos, Sandra; Salcedo-Allende, Maria Teresa; Torres-Torronteras, Javier; Vila-Julia, Ferran et al. DOI: 10.1096/fj.202100819RRR
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: 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: Publication type: Paper in international publication Authors: Andreu, Antoni L; Arenas, Joaquin; Barquinero, Jordi; Brull, Astrid; de Luna, Noemi; Krag, Thomas O; Lucia, Alejandro; Martin, Miguel Angel; Moya, Laura; Pares, Marta et al. DOI: 10.1242/dmm.043281
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: 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: 29315579 Journal: JOURNAL OF PHYSIOLOGY-LONDON Year: 2018 Reference: J Physiol. 2018 Mar 15;596(6):1035-1061. doi: 10.1113/JP275292. Epub 2018 Feb 14. Impact factor: Publication type: Paper in international publication Authors: Andreu, Antoni L; Arenas, Joaquin; Balandron, Carlos; Campo, Rocio; Diez Bermejo, Jorge; Fiuza-Luces, Carmen; Galvez, Beatriz G; Gonzalez-Murillo, Africa; Llavero, Francisco; Lopez, Juan A et al. DOI: 10.1113/JP275292
PMID: 29307792 Journal: European Journal of Medical Genetics Year: 2018 Reference: Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4. Impact factor: Publication type: Paper in international publication Authors: Ariceta, Gema; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Plaja, Alberto; Sabate-Rotes, Anna; Tizzano, Eduardo; Valenzuela, Irene; Vendrell, Teresa et al. DOI: 10.1016/j.ejmg.2018.01.001
PMID: 26760297 Journal: PLoS Genetics Year: 2016 Reference: PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan. Impact factor: Publication type: Paper in international publication Authors: Akman, Gokhan; Camara, Yolanda; Dalla Rosa, Ilaria; Durigon, Romina; Elgar, Greg; Grocott, Sarah; Hirano, Michio; Holt, Ian J; Hunt, Lilian; Johnson, Mark A et al. DOI: 10.1371/journal.pgen.1005779
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
PMID: 25149473 Journal: HUM MOL GENET Year: 2015 Reference: Hum Mol Genet. 2015 Jan 1;24(1):167-84. doi: 10.1093/hmg/ddu427. Epub 2014 Aug 22. Impact factor: Publication type: Paper in international publication Authors: Andreu, Antonio L; Armengod, M-Eugenia; Garcia-Arumi, Elena; Martinez-Zamora, Ana; Meseguer, Salvador et al. DOI: 10.1093/hmg/ddu427
PMID: 24448160 Journal: MOLECULAR THERAPY Year: 2014 Reference: Mol Ther. 2014 May;22(5):901-7. doi: 10.1038/mt.2014.6. Epub 2014 Jan 22. Impact factor: Publication type: Paper in international publication Authors: Auricchio, Alberto; Barquinero, Jordi; Cabrera-Perez, Raquel; Camara, Yolanda; Di Meo, Ivano; Hirano, Michio; Marti, Ramon; Pizzorno, Giuseppe; Torres-Torronteras, Javier; Viscomi, Carlo et al. DOI: 10.1038/mt.2014.6
PMID: 21303702 Journal: MITOCHONDRION Year: 2011 Reference: Mitochondrion. 2011 May;11(3):520-7. Epub 2011 Feb 22. Impact factor: Publication type: Paper in international publication Authors: ; ; ; ; ; ; ; ; ; et al. DOI: 10.1016/j.mito.2011.01.011
PMID: 19447103 Journal: EXPERIMENTAL CELL RESEARCH Year: 2009 Reference: Exp Cell Res. 2009 Oct 15;315(17):3004-13. Impact factor: Publication type: Paper in international publication Authors: Barbosa-Desongles, Anna; Barquinero, Jordi; Hurtado, Antoni; Morote, Joan; Munell, Francina; Pinos, Tomas; Poupon, Marie-France; Reventos, Jaume; Santamaria-Martinez, Albert; Seoane, Joan et al. DOI: 10.1016/j.yexcr.2009.05.007
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.
