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: 37568403 Journal: Journal of Clinical Medicine Year: 2023 Reference: J Clin Med. 2023 Jul 29;12(15):5003. doi: 10.3390/jcm12155003. Impact factor: Publication type: Paper in international publication Authors: Alonso, Milagros; Cambra, Ana; Carcavilla, Atilano; Cruz, Jaime; Ezquieta, Begona; Gonzalez-Casado, Isabel; Guillen-Navarro, Encarna; Lopez-Siguero, Juan Pedro; Medrano, Constancio; Pozo, Jesus et al. DOI: 10.3390/jcm12155003
PMID: 37580113 Journal: JOURNAL OF MEDICAL GENETICS Year: 2023 Reference: J Med Genet. 2023 Aug 14:jmg-2022-109030. doi: 10.1136/jmg-2022-109030. Impact factor: Publication type: Paper in international publication Authors: Agre, Katherine E; Ahmed, Syed Anas; Battisti, Gladys; Bergmann, Anke Katharina; Braun, Dominique; Brennenstuhl, Heiko; Brunner, Han G; Callewaert, Bert Louis; Caluseriu, Oana; Chitayat, David et al. DOI: 10.1136/jmg-2022-109030
PMID: 37658852 Journal: GENETICS IN MEDICINE Year: 2023 Reference: Genet Med. 2023 Sep 1:100962. doi: 10.1016/j.gim.2023.100962. Impact factor: Publication type: Letter or abstract Authors: Angle, Brad; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Chatron, Nicolas; de Boer, Elke; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dingemans, Alexander J M; Dubourg, Christele et al. DOI: 10.1016/j.gim.2023.100962
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: 35486155 Journal: ARCHIVES OF GYNECOLOGY AND OBSTETRICS Year: 2022 Reference: Arch Gynecol Obstet. 2022 Apr 29. pii: 10.1007/s00404-022-06564-7. doi: 10.1007/s00404-022-06564-7. Impact factor: 2.344 Publication type: Paper in international publication Authors: Carreras, Elena, Mediano-Vizuete, Carmen, Castells-Sarret, Neus, Maiz, Nerea, Coello-Cahuao, Edgar, Sanchez-Duran, Maria Angeles, Calero, Ines, Higueras, Maria Teresa, Garcia, Mayte Aviles, Rodo, Carlota et al. DOI: 10.1007/s00404-022-06564-7
PMID: 35466492 Journal: PEDIATRIC TRANSPLANTATION Year: 2022 Reference: Pediatr Transplant. 2022 Apr 24:e14292. doi: 10.1111/petr.14292. Impact factor: 1.502 Publication type: Paper in international publication Authors: Navarro Jimenez, Alexandra, Garrido Pontnou, Marta, Camacho Soriano, Jessica, Hidalgo Llompart, Ernest, Bilbao Aguirre, Itxarone, Charco Torra, Itzarone, Esperalba, Juliana, Melendo Perez, Susana, Sabado Alvarez, Constantino, Quintero Bernabeu, Jesus et al. DOI: 10.1111/petr.14292
PMID: 34092059 Journal: HAEMATOLOGICA Year: 2022 Reference: Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990. Impact factor: 9.941 Publication type: Paper in international publication Authors: Tovy, Ayala, Rosas, Carina, Gaikwad, Amos S, Medrano, Geraldo, Zhang, Linda, Reyes, Jaime M, Huang, Yung-Hsin, Arakawa, Tastuhiko, Kurtz, Kristen, Conneely, Shannon E et al. DOI: 10.3324/haematol.2021.278990
PMID: 35322194 Journal: MODERN PATHOLOGY Year: 2022 Reference: Mod Pathol. 2022 Jun;35(6):852-853. doi: 10.1038/s41379-022-01064-0. Epub 2022 Mar 23. Impact factor: 7.842 Publication type: Letter or abstract Authors: Nadal, Alfons, Garrido-Pontnou, Marta, Navarro, Alexandra, Camacho, Jessica, Ferreres, Joan Carles et al. DOI: 10.1038/s41379-022-01064-0
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: 33237514 Journal: Reproductive Sciences Year: 2021 Reference: Reprod Sci. 2021 Apr;28(4):1185-1193. doi: 10.1007/s43032-020-00403-3. Epub 2020 Nov 25. Impact factor: 3.06 Publication type: Paper in international publication Authors: Franco, Jorge Andres, Rodriguez, Jorge Luis, Vargas, Magda Jimena, Aula-Olivar, Ana, Quintero, Laura, Ramon Y Cajal, Santiago, Garrido, Marta, Olaya-C, Mercedes et al. DOI: 10.1007/s43032-020-00403-3
PMID: 33305909 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2021 Reference: Am J Med Genet A. 2021 Mar;185(3):856-865. doi: 10.1002/ajmg.a.62010. Epub 2020 Dec 11. Impact factor: 2.802 Publication type: Letter or abstract Authors: Caino, Silvia, Fano, Virginia, Heath, Karen E, Garcia-Minaur, Sixto, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Rodriguez-Jimenez, Carmen, Solis, Mario, Pacio-Miguez, Marta, Siccha, Sofia M et al. DOI: 10.1002/ajmg.a.62010
PMID: 32880696 Journal: EUROPEAN RADIOLOGY Year: 2021 Reference: Eur Radiol. 2021 Mar;31(3):1494-1504. doi: 10.1007/s00330-020-07182-0. Epub 2020 Sep 3. Impact factor: 5.315 Publication type: Paper in international publication Authors: Spijkers, Suzanne, Littooij, Annemieke S, Kwee, Thomas C, Tolboom, Nelleke, Beishuizen, Auke, Bruin, Marrie C A, Elias, Sjoerd G, van de Brug, Tim, Enriquez, Goya, Sabado, Constantino et al. DOI: 10.1007/s00330-020-07182-0
PMID: 32240714 Journal: JOURNAL OF HEPATOLOGY Year: 2020 Reference: J Hepatol. 2020 Aug;73(2):328-341. doi: 10.1016/j.jhep.2020.03.025. Epub 2020 Mar 30. Impact factor: 20.582 Publication type: Paper in international publication Authors: Carrillo-Reixach, Juan, Torrens, Laura, Simon-Coma, Marina, Royo, Laura, Domingo-Sabat, Montserrat, Abril-Fornaguera, Jordi, Akers, Nicholas, Sala, Margarita, Ragull, Sonia, Arnal, Magdalena et al. DOI: 10.1016/j.jhep.2020.03.025
PMID: 32142919 Journal: CANCER LETTERS Year: 2020 Reference: Cancer Lett. 2020 May 1;477:49-59. doi: 10.1016/j.canlet.2020.02.035. Epub 2020 Mar 3. Impact factor: 7.36 Publication type: Paper in international publication Authors: Molist, C, Navarro, N, Giralt, I, Zarzosa, P, Gallo-Oller, G, Pons, G, Magdaleno, A, Moreno, L, Guillen, G, Hladun, R et al. DOI: 10.1016/j.canlet.2020.02.035
PMID: 32117230 Journal: Frontiers in Immunology Year: 2020 Reference: Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020. Impact factor: 5.085 Publication type: Paper in international publication Authors: Riviere, Jacques G, Franco-Jarava, Clara, Martinez-Gallo, Monica, Aguilo-Cucurull, Aina, Blasco-Perez, Laura, Paramonov, Ida, Antolin, Maria, Martin-Nalda, Andrea, Soler-Palacin, Pere, Colobran, Roger et al. DOI: 10.3389/fimmu.2020.00046
PMID: 32043567 Journal: CLINICAL GENETICS Year: 2020 Reference: Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Impact factor: 3.578 Publication type: Paper in international publication Authors: Pascual-Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martinez-Monseny, Antonio Federico, Castells, Aina Alba, Xiol, Clara, Catala, Vicenc et al. DOI: 10.1111/cge.13718
PMID: 30850195 Journal: ARCHIVOS DE BRONCONEUMOLOGIA Year: 2019 Reference: Arch Bronconeumol. 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5. Impact factor: 4.214 Publication type: Paper in national publication Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Camats-Tarruella, Nuria, Fernandez-Cancio, Monica, Garrido-Pontnou, Marta, Antolin, Maria, Reula, Ana, Armengot-Carceller, Miguel, Carrascosa, Antonio, Moreno-Galdo, Antonio et al. DOI: 10.1016/j.arbres.2019.01.021
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
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.
