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 Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.
The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.
Specific research lines and teams include:
PMID: 37695206 Journal: ANNALS OF NEUROLOGY Year: 2023 Reference: Ann Neurol. 2023 Sep 11. doi: 10.1002/ana.26788. Impact factor: Publication type: Paper in international publication Authors: Agosto, Caterina; Albamonte, Emilio; Antonaci, Laura; Bello, Luca; Berardinelli, Angela L; Bertini, Enrico; Bonanno, Silvia; Bosco, Luca; Bravetti, Chiara; Brolatti, Noemi et al. DOI: 10.1002/ana.26788
PMID: 37691296 Journal: Annals of Clinical and Translational Neurology Year: 2023 Reference: Ann Clin Transl Neurol. 2023 Sep 10. doi: 10.1002/acn3.51889. Impact factor: Publication type: Paper in international publication Authors: Benguerba, Kamal; De Vivo, Darryl C; Desguerre, Isabelle; Faulkner, Eric; Finkel, Richard S; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M; Quijano-Roy, Susana et al. DOI: 10.1002/acn3.51889
PMID: 37737566 Journal: EMBO JOURNAL Year: 2023 Reference: EMBO J. 2023 Sep 22:e114719. doi: 10.15252/embj.2023114719. Impact factor: Publication type: Paper in international publication Authors: Alonso-Maranon, Josune; Alvarez-Villanueva, Daniel; Bertran, Joan; Bertran, Joan; Bigas, Anna; Bonfill-Teixidor, Ester; Borras, Eva; Espinosa, Lluis; Garcia-Hernandez, Violeta; Garrido, Marta et al. DOI: 10.15252/embj.2023114719
PMID: 37762546 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2023 Reference: Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Impact factor: Publication type: Paper in international publication Authors: Alders, Marielle; Campos, Berta; Castells, Neus; Castells, Neus; Haghshenas, Sadegheh; Henneman, Peter; Lasa-Aranzasti, Amaia; Levy, Michael A; Maas, Saskia; Mannens, Marcel M A M et al. DOI: 10.3390/ijms241814240
PMID: 35495150 Journal: Frontiers in Genetics Year: 2022 Reference: Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Impact factor: Publication type: Paper in international publication Authors: Adrian Alcala, San Marti; Angeles, Perez-Granero; Antonio Federico, Martinez-Monseny; Antonio, Gonzalez-Meneses; Antonio, Martinez-Bermejo; Barcia, Ana; Barruz, Pilar; Bel-Fenellos, Cristina; Blanca, Fernandez; Blanco-Lago, Raquel et al. DOI: 10.3389/fgene.2022.652454
PMID: 35466492 Journal: PEDIATRIC TRANSPLANTATION Year: 2022 Reference: Pediatr Transplant. 2022 Sep;26(6):e14292. doi: 10.1111/petr.14292. Epub 2022 Apr 24. Impact factor: Publication type: Paper in international publication Authors: Bilbao Aguirre, Itxarone; Camacho Soriano, Jessica; Charco Torra, Itzarone; Esperalba, Juliana; Gallego Melcon, Soledad; Garrido Pontnou, Marta; Gros Subias, Luis; Hidalgo Llompart, Ernest; Juamperez, Javier; Larrarte King, Mauricio et al. DOI: 10.1111/petr.14292
PMID: 35445792 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2022 Reference: Am J Med Genet A. 2022 Jul;188(7):2036-2047. doi: 10.1002/ajmg.a.62739. Epub 2022 Apr 21. Impact factor: Publication type: Paper in international publication Authors: Amiel, Jeanne; Assoum, Mirna; Baujat, Genevieve; Bessieres, Bettina; Bigoni, Stefania; Bruel, Ange-Line; Burglen, Lydie; Callier, Patrick; Captier, Guillaume; Dard, Rodolphe et al. DOI: 10.1002/ajmg.a.62739
PMID: 34092059 Journal: HAEMATOLOGICA Year: 2022 Reference: Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990. Impact factor: Publication type: Paper in international publication Authors: Aguilar, Rogelio; Arakawa, Tastuhiko; Brunetti, Lorenzo; Carter, Melissa T; Chen, Chun-Wei; Conneely, Shannon E; Gaikwad, Amos S; Gao, Anne; Goodell, Margaret A; Guzman, Anna G et al. DOI: 10.3324/haematol.2021.278990
PMID: 34943558 Journal: Diagnostics Year: 2021 Reference: Diagnostics (Basel). 2021 Dec 9;11(12). pii: diagnostics11122320. doi: 10.3390/diagnostics11122320. Impact factor: 3.706 Publication type: Review in international publication Authors: Abuli, Anna, Alvaro-Sanchez, Sara, Abreu-Rodriguez, Irene, Garrido-Navas, Maria Del Carmen, Serra-Juhe, Clara et al. DOI: 10.3390/diagnostics11122320
PMID: 34445733 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2021 Reference: Int J Mol Sci. 2021 Aug 21;22(16). pii: ijms22169029. doi: 10.3390/ijms22169029. Impact factor: 5.924 Publication type: Review in international publication Authors: Costa-Roger, Mar, Blasco-Perez, Laura, Cusco, Ivon, Tizzano, Eduardo F et al. DOI: 10.3390/ijms22169029
PMID: 34330959 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x. Impact factor: 4.38 Publication type: Paper in international publication Authors: Calucho, Maite, Gartner, Silvia, Barranco, Paula, Fernandez-Alvarez, Paula, Perez, Raquel Garcia, Tizzano, Eduardo F et al. DOI: 10.1038/s41598-021-94798-x
PMID: 34212338 Journal: Clinical & Translational Oncology Year: 2021 Reference: Clin Transl Oncol. 2021 Dec;23(12):2460-2473. doi: 10.1007/s12094-021-02654-1. Epub 2021 Jul 1. Impact factor: 3.405 Publication type: Paper in international publication Authors: Ruano, D, Rubio, P, Verges, R, Valverde, C, Gallego, S, Bernabeu, D, Hindi, N, Mata, C, Marquez, C, Orcajo, J et al. DOI: 10.1007/s12094-021-02654-1
PMID: 31958316 Journal: JOURNAL OF ENDOCRINOLOGY Year: 2020 Reference: J Endocrinol. 2020 Mar;244(3):523-533. doi: 10.1530/JOE-19-0545. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Lagos, Nestor; Lara, Hernan et al. DOI: 10.1530/JOE-19-0545
PMID: 32068651 Journal: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY Year: 2020 Reference: J Pediatr Hematol Oncol. 2020 May;42(4):299-301. doi: 10.1097/MPH.0000000000001753. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Kuo, Dennis John; Masser-Frye, Diane; Savla, Dipal et al. DOI: 10.1097/MPH.0000000000001753
PMID: 31984499 Journal: ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH Year: 2020 Reference: Alcohol Clin Exp Res. 2020 Mar;44(3):660-668. doi: 10.1111/acer.14294. Epub 2020 Feb 25. Impact factor: Publication type: Paper in international publication Authors: Abeche, Alberto Mantovani; da Silva, Andre Anjos; de Souza, Paulo Ricardo Assis; Del Campo, Miguel; Fraga, Lucas Rosa; Larrandaburu, Mariela; Rocha, Anastacia Guimaraes; Sanseverino, Maria Teresa V; Schuler-Faccini, Lavinia; Terra, Anna Pires et al. DOI: 10.1111/acer.14294
PMID: 33420009 Journal: Human genome variation Year: 2020 Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3. Impact factor: 0 Publication type: Paper in international publication Authors: Cueto-Gonzalez, Anna M, Fernandez-Cancio, Monica, Fernandez-Alvarez, Paula, Garcia-Arumi, Elena, Tizzano, Eduardo F et al. DOI: 10.1038/s41439-020-0105-3
PMID: 31681265 Journal: Frontiers in Immunology Year: 2019 Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Impact factor: 4.716 Publication type: Paper in international publication Authors: Rudilla, Francesc, Franco-Jarava, Clara, Martinez-Gallo, Monica, Garcia-Prat, Marina, Martin-Nalda, Andrea, Riviere, Jacques, Aguilo-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier et al. DOI: 10.3389/fimmu.2019.02325
PMID: 31663686 Journal: Molecular Genetics & Genomic Medicine Year: 2019 Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Impact factor: 2.448 Publication type: Paper in international publication Authors: Martin-Nalda, Andrea, Cueto-Gonzalez, Anna M, Argudo-Ramirez, Ana, Marin-Soria, Jose L, Martinez-Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F et al. DOI: 10.1002/mgg3.1016
PMID: 31502291 Journal: ANNALS OF NEUROLOGY Year: 2019 Reference: Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3. Impact factor: 9.496 Publication type: Letter or abstract Authors: Mendonca, Rodrigo H, Rocha, Antonio J, Lozano-Arango, Andres, Diaz, Astry B, Castiglioni, Claudia, Reed, Umbertina C, Silva, Andre M S, Kulikowski, Leslie, Paramonov, Ida, Cusco, Ivon et al. DOI: 10.1002/ana.25597
PMID: 31427717 Journal: Scientific Reports Year: 2019 Reference: Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Impact factor: 4.011 Publication type: Paper in international publication Authors: Toledo, Maria de, Belzunces, Nuria, Boronat, Susana, Camacho, Tomas, Campistol, Jaume, Campo, Miguel Del, Campo, Andrea, Cancho, Ramon, Candau, Ramon, Canos, Ignacio et al. DOI: 10.1038/s41598-019-48385-w
PMID: 29433793 Journal: NEUROMUSCULAR DISORDERS Year: 2018 Reference: Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Impact factor: 2.487 Publication type: Paper in international publication Authors: Calucho, Maite, Bernal, Sara, Alias, Laura, March, Francesca, Vencesla, Adoracion, Rodriguez-Alvarez, Francisco J, Aller, Elena, Fernandez, Raquel M, Borrego, Salud, Millan, Jose M et al. DOI: 10.1016/j.nmd.2018.01.003
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: 2.004 Publication type: Paper in international publication Authors: Valenzuela, Irene, Fernandez-Alvarez, Paula, Plaja, Alberto, Ariceta, Gema, Sabate-Rotes, Anna, Garcia-Arumi, Elena, Vendrell, Teresa, Tizzano, Eduardo et al. DOI: 10.1016/j.ejmg.2018.01.001
PMID: 27620364 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):65-71. doi: 10.1016/j.ejmg.2016.09.003. Epub 2016 Sep 9. Impact factor: 1.81 Publication type: Paper in international publication Authors: Boronat, S, Sanchez-Montanez, A, Gomez, N, Jacas, C, Martinez-Ribot, L, Vazquez, E, Del Campo, M et al. DOI: 10.1016/j.ejmg.2016.09.003
PMID: 27638326 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):72-78. doi: 10.1016/j.ejmg.2016.09.012. Epub 2016 Sep 13. Impact factor: 1.81 Publication type: Paper in international publication Authors: Boronat, S, Vicente, M, Lainez, E, Sanchez-Montanez, A, Vazquez, E, Mangado, L, Martinez-Ribot, L, Del Campo, M et al. DOI: 10.1016/j.ejmg.2016.09.012
PMID: 27567161 Journal: BRAIN & DEVELOPMENT Year: 2017 Reference: Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25. Impact factor: 1.785 Publication type: Paper in international publication Authors: Sanchez-Montanez, Angel, de Grazia, Jose, Delgado, Ignacio, Vazquez, Elida, Del Campo, Miguel, Boronat, Susana et al. DOI: 10.1016/j.braindev.2016.08.003
PMID: 28344185 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Impact factor: 2.137 Publication type: Paper in international publication Authors: Valenzuela, Irene, Fernandez-Alvarez, Paula, Munell, Francina, Sanchez-Montanez, Angel, Giralt, Gemma, Vendrell, Teresa, Tizzano, Eduardo et al. DOI: 10.1016/j.ejmg.2017.03.010
PMID: 25600024 Journal: ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA Year: 2015 Reference: Enferm Infecc Microbiol Clin. 2015 Oct;33(8):536-8. doi: 10.1016/j.eimc.2014.10.012. Epub 2015 Jan 16. Impact factor: 2.172 Publication type: Paper in national publication Authors: Vilca, Luz Maria, Bartolome, Rosa, de Arquer, Maria, Albero, Inmaculada, Ribes, Carmen, Campins-Marti, Magda et al. DOI: 10.1016/j.eimc.2014.10.012
The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.
On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.
The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.
