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: 38032349 Journal: CLINICAL CANCER RESEARCH Year: 2023 Reference: Clin Cancer Res. 2023 Nov 30. doi: 10.1158/1078-0432.CCR-23-1861. Impact factor: Publication type: Paper in international publication Authors: Altarescu, Gheona; Banerjee, Sushmita; Bauer, Sebastian; Bjerre, Anna; Cai, Shirong; Cao, Hui; Christians, Anne; Cui, Yuehong; Deng, Yanhong; Frode, Kerstin et al. DOI: 10.1158/1078-0432.CCR-23-1861
PMID: 38097808 Journal: Nature Metabolism Year: 2023 Reference: Nat Metab. 2023 Dec 14. doi: 10.1038/s42255-023-00928-2. Impact factor: Publication type: Paper in international publication Authors: Aguilera, Monica; Agusti, Alvar; Albaiceta, Guillermo; Alobid, I; Arismendi, E; Barranco, P; Barroso, B; Betancor, D; Bobolea, I; Cardaba, B et al. DOI: 10.1038/s42255-023-00928-2
PMID: 38117302 Journal: HUMAN GENETICS Year: 2023 Reference: Hum Genet. 2023 Dec 20. doi: 10.1007/s00439-023-02622-5. Impact factor: Publication type: Paper in international publication Authors: Bedard, Philippe L; Bramswig, Nuria C; Bruel, Ange-Line; Calvo, Emiliano; Caumes, Roseline; Cervantes, Andres; Charles, Perrine; Chatron, Nicolas; Cho, Byoung Chul; Chrzanowska, Krystyna et al. DOI: 10.1007/s00439-023-02622-5
PMID: 38183850 Journal: NEUROMUSCULAR DISORDERS Year: 2023 Reference: Neuromuscul Disord. 2023 Dec 14;34:114-122. doi: 10.1016/j.nmd.2023.12.008. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Abiusi, Emanuela; Bertini, Enrico Silvio; Costa-Roger, Mar; de Dios Lascuevas, Marta; Diana, Francesco; Frauenfelder, Giulia; Hernandez, David; Peschillo, Simone; Requena, Manuel; Ribo, Marc et al. DOI: 10.1016/j.nmd.2023.12.008
PMID: 34286374 Journal: EUROPEAN JOURNAL OF PEDIATRICS Year: 2022 Reference: Eur J Pediatr. 2022 Jan;181(1):287-294. doi: 10.1007/s00431-021-04175-z. Epub 2021 Jul 20. Impact factor: Publication type: Paper in international publication Authors: Abella, Raul; Balcells, Joan; Betrian, Pedro; Codina-Sola, Marta; Dolader, Paola; Fernandez-Alvarez, Paula; Fernandez-Doblas, Joaquin; Fidalgo, Andrea; Garrido, Marta; Gran, Ferran et al. DOI: 10.1007/s00431-021-04175-z
PMID: 35018708 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2022 Reference: Am J Med Genet A. 2022 May;188(5):1396-1406. doi: 10.1002/ajmg.a.62648. Epub 2022 Jan 12. Impact factor: Publication type: Paper in international publication Authors: Cogne, Benjamin; Cusco, Ivon; Gomez-Ospina, Natalia; Isidor, Bertrand; Matalon, Dena R; Morales, Jose Andres; Valenzuela, Irene et al. DOI: 10.1002/ajmg.a.62648
PMID: 34942136 Journal: LANCET NEUROLOGY Year: 2022 Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Impact factor: Publication type: Paper in international publication Authors: Abbati, Francesca; Akiyama, Kiyomu; Alemdaroglu, Ipek; Almeida Pereira, Jaqueline; Amorelli, Giulia Maria; Arnoldi, Maria Teresa; Arpin, Stephanie; Ayse Karaduman, Aynur; Balikova, Irina; Balikova, Irina et al. DOI: 10.1016/S1474-4422(21)00367-7
PMID: 34708400 Journal: CLINICAL GENETICS Year: 2022 Reference: Clin Genet. 2022 Jan;101(1):144-145. doi: 10.1111/cge.14078. Epub 2021 Oct 27. Impact factor: Publication type: Letter or abstract Authors: Aguirre Rodriguez, Cristina; Artola Aizalde, Elena; Gawlinski, Pawel; Hernandez Dorronsoro, Unai; Lasa-Aranzasti, Amaia; Martinez-Soroa, Itziar; Saez Villaverde, Raquel; Satrustegi Aritziturri, Miren et al. DOI: 10.1111/cge.14078
PMID: 34006935 Journal: MODERN PATHOLOGY Year: 2021 Reference: Mod Pathol. 2021 Sep;34(9):1704-1709. doi: 10.1038/s41379-021-00827-5. Epub 2021 May 18. Impact factor: 7.842 Publication type: Paper in international publication Authors: Serrano, Berta, Garrido-Pontnou, Marta, Navarro, Alexandra, Camacho, Jessica, Crispi, Fatima, Alguacil-Guillen, Marina, Moreno-Baro, Anna, Hernandez-Losa, Javier, Sese, Marta, Ramon Y Cajal, Santiago et al. DOI: 10.1038/s41379-021-00827-5
PMID: 33777642 Journal: European journal of pediatric surgery reports Year: 2021 Reference: European J Pediatr Surg Rep. 2021 Jan;9(1):e28-e32. doi: 10.1055/s-0041-1726347. Epub 2021 Mar 25. Impact factor: 0 Publication type: Letter or abstract Authors: Ahmad, Hira, Vilanova-Sanchez, Alejandra, Amengual, Isabel, Guerra-Pastrian, Laura, Garrido-Pontnou, Marta, Montalvo, Cristina, Bueno, Alba, Langer, Jacob, Wood, Richard J, Levitt, Marc A et al. DOI: 10.1055/s-0041-1726347
PMID: 32253119 Journal: ARCHIVOS DE BRONCONEUMOLOGIA Year: 2021 Reference: Arch Bronconeumol. 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3. Impact factor: 4.872 Publication type: Paper in national publication Authors: Baz-Redon, Noelia, Fernandez-Cancio, Monica, Moreno-Galdo, Antonio, Camats-Tarruella, Nuria, Tizzano, Eduardo, Amaro-Rodriguez, Rosanel, Rovira-Amigo, Sandra, Paramonov, Ida, Castillo-Corullon, Silvia, Cols Roig, Maria et al. DOI: 10.1016/j.arbres.2020.02.010
PMID: 33739559 Journal: HUMAN MUTATION Year: 2021 Reference: Hum Mutat. 2021 Jun;42(6):787-795. doi: 10.1002/humu.24200. Epub 2021 Apr 6. Impact factor: 4.878 Publication type: Paper in international publication Authors: Blasco-Perez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes-Prior, Pablo, Cusco, Ivon, Tizzano, Eduardo F et al. DOI: 10.1002/humu.24200
PMID: 32790583 Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY Year: 2020 Reference: Pediatr Dev Pathol. 2020 Nov-Dec;23(6):424-430. doi: 10.1177/1093526620945528. Epub 2020 Aug 13. Impact factor: 0.885 Publication type: Paper in international publication Authors: DeVito, Rita, Reyes-Mugica, Miguel, Bisogno, Gianni, Donofrio, Vittoria, Alaggio, Rita, Kletskaya, Irina, Garrido, Marta, Salgado, Claudia M, Zin, Angelica et al. DOI: 10.1177/1093526620945528
PMID: 32620954 Journal: HUMAN MOLECULAR GENETICS Year: 2020 Reference: Hum Mol Genet. 2020 Aug 11;29(14):2435-2450. doi: 10.1093/hmg/ddaa120. Impact factor: 5.1 Publication type: Paper in international publication Authors: Davis, Erica E, Balasubramanian, Ravikumar, Kupchinsky, Zachary A, Keefe, David L, Plummer, Lacey, Khan, Kamal, Meczekalski, Blazej, Heath, Karen E, Lopez-Gonzalez, Vanesa, Ballesta-Martinez, Mary J et al. DOI: 10.1093/hmg/ddaa120
PMID: 32549991 Journal: Human genome variation Year: 2020 Reference: Hum Genome Var. 2020 Jun 8;7:20. doi: 10.1038/s41439-020-0105-3. eCollection 2020. 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: 32409512 Journal: JOURNAL OF MEDICAL GENETICS Year: 2020 Reference: J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. Impact factor: 4.943 Publication type: Paper in international publication Authors: Abe, Yuichi, Lehalle, Daphne, Vabres, Pierre, Sorlin, Arthur, Bierhals, Tatjana, Avila, Magali, Carmignac, Virginie, Chevarin, Martin, Torti, Erin, Sondergaard-Schatz, Krista et al. DOI: 10.1136/jmedgenet-2019-106508
PMID: 30771526 Journal: CLINICAL MICROBIOLOGY AND INFECTION Year: 2019 Reference: Clin Microbiol Infect. 2019 May;25(5):633.e5-633.e9. doi: 10.1016/j.cmi.2019.02.008. Epub 2019 Feb 14. Impact factor: 6.425 Publication type: Paper in international publication Authors: Garrido, Marta, Frick, Antoinette, Rodrigo, Carlos, Pumarola, Tomas, Carreras, Elena, Mendez, Elida Vazquez, Anton, Andres, Rando, Ariadna, Arevalo, Silvia, Rodo, Carlota et al. DOI: 10.1016/j.cmi.2019.02.008
PMID: 30760090 Journal: LUPUS Year: 2019 Reference: Lupus. 2019 Mar;28(3):396-405. doi: 10.1177/0961203319828521. Epub 2019 Feb 13. Impact factor: 2.924 Publication type: Paper in international publication Authors: Garcia-Vives, E, Sole, C, Moline, T, Alvarez-Rios, A M, Vidal, M, Agraz, I, Ordi-Ros, J, Cortes-Hernandez, J et al. DOI: 10.1177/0961203319828521
PMID: 30733272 Journal: HAEMATOLOGICA Year: 2019 Reference: Haematologica. 2019 Sep;104(9):1822-1829. doi: 10.3324/haematol.2018.207928. Epub 2019 Feb 7. Impact factor: 7.57 Publication type: Paper in international publication Authors: Ferrandez, Antonio, Garrido, Marta, Garcia-Bragado, Federico, de la Maya, Maria Dolores, Vagace, Jose Manuel, Panizo, Carlos Manuel, Astigarraga, Itziar, Andres, Mara, Jaffe, Elaine S, Campo, Elias et al. DOI: 10.3324/haematol.2018.207928
PMID: 30006058 Journal: European Journal of Medical Genetics Year: 2019 Reference: Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10. Impact factor: 2.022 Publication type: Paper in international publication Authors: Valenzuela, Irene, Segura-Puimedon, Maria, Rodriguez-Santiago, Benjamin, Fernandez-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluis, Tizzano, Eduardo et al. DOI: 10.1016/j.ejmg.2018.07.007
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.
