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: 37121912 Journal: CLINICAL GENETICS Year: 2023 Reference: Clin Genet. 2023 Apr 30. doi: 10.1111/cge.14351. Impact factor: Publication type: Paper in international publication Authors: Ballesta-Martinez, Mary J; Codina-Sola, Marta; Cueto-Gonzalez, Anna M; Diaz-Gonzalez, Francisca; Heath, Karen E; Lucas-Castro, Elsa; Modamio-HOybjOr, Silvia; Parron-Pajares, Manuel; Prieto, Pablo; Santos-Simarro, Fernando et al. DOI: 10.1111/cge.14351
PMID: 37503210 Journal: Year: 2023 Reference: medRxiv. 2023 Jun 10:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. Preprint. Impact factor: Publication type: Other (letters to the editor, abstracts, corrigendum, etc.) Authors: Abdalla, Ebtesam; Abdelrazek, Ibrahim M; Aguado-Barrera, Miguel E; Alaaeldin, Khoshoua; Alizadeh, Behrooz Z; Alsner, Jan; Altabas, Manuel; Andreassen, Christian Nicolaj; Arlt, Annabelle; Artem, Borovikov et al. DOI: 10.1101/2023.06.06.23290887
PMID: 37857131 Journal: PSYCHIATRY RESEARCH Year: 2023 Reference: Psychiatry Res. 2023 Oct 11;329:115540. doi: 10.1016/j.psychres.2023.115540. Impact factor: Publication type: Paper in international publication Authors: Abdalla, Ebtesam; Abdelrazek, Ibrahim M; Alaaeldin, Khoshoua; Antoni Ramos-Quiroga, Josep; Arlt, Annabelle; Artem, Borovikov; Caro, Pilar; Daigre-Blanco, Constanza; Devriendt, Koen; Ebstein, Frederic et al. DOI: 10.1016/j.psychres.2023.115540
PMID: 37870976 Journal: NEW ENGLAND JOURNAL OF MEDICINE Year: 2023 Reference: N Engl J Med. 2023 Oct 21. doi: 10.1056/NEJMoa2306441. Impact factor: Publication type: Paper in international publication Authors: Agrawal, Trishala; Bhattacharya, Archan; Blanco, Ana; Boyer, Michael; Cheng, Susanna; Cho, Byoung Chul; Cruz, Xavier de la; Diez, Orland; Felip, Enriqueta; Feliubadalo, Lidia et al. DOI: 10.1056/NEJMoa2306441
PMID: 34906509 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 Mar;24(3):754-756. doi: 10.1016/j.gim.2021.11.007. Epub 2021 Dec 6. Impact factor: Publication type: Letter or abstract Authors: Cueto-Gonzalez, Anna Ma; Fernandez-Alvarez, Paula; Lasa-Aranzasti, Amaia; Palafoll, Irene Valenzuela; Tizzano, Eduardo F; Vendrell Bayona, Teresa et al. DOI: 10.1016/j.gim.2021.11.007
PMID: 34894068 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2022 Reference: Am J Med Genet A. 2022 Mar;188(3):991-995. doi: 10.1002/ajmg.a.62596. Epub 2021 Dec 11. Impact factor: Publication type: Paper in international publication Authors: Cusco, Ivon; Guillen Benitez, Elena; Limeres, Javier; Lopez-Grondona, Fermina; Sanchez-Montanez, Angel; Tizzano, Eduardo F; Valenzuela, Irene et al. DOI: 10.1002/ajmg.a.62596
PMID: 35142798 Journal: ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE Year: 2022 Reference: Arch Pathol Lab Med. 2022 Jun 1;146(6):660-676. doi: 10.5858/arpa.2022-0029-SA. Impact factor: Publication type: Paper in international publication Authors: Avvad-Portari, Elyzabeth; Babal, Pavel; Baldewijns, Marcella; Blomberg, Marie; Bouachba, Amine; Camacho, Jessica; Collardeau-Frachon, Sophie; Colson, Arthur; Dehaene, Isabelle; Ferreres, Joan Carles et al. DOI: 10.5858/arpa.2022-0029-SA
PMID: 35060122 Journal: CLINICAL GENETICS Year: 2022 Reference: Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Impact factor: Publication type: Review in international publication Authors: Aguado, Carmen; Aguado, Cristina; Albinana, Virginia; Alias, Laura; Almoguera, Berta; Alonso, Javier; Alonso-Ferreira, Veronica; Alvarez-Mora, Maria Isabel; Alvarez-Mora, Maria Isabel; Antinolo, Guillermo et al. DOI: 10.1111/cge.14113
PMID: 33142000 Journal: Journal of Genetic Counseling Year: 2021 Reference: J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. Impact factor: 2.537 Publication type: Paper in international publication Authors: Cruz, Jordi, Garcia-Arumi, Elena, Tizzano, Eduardo F, Garci-Espejo, Regla, Martinez-Ribot, Laia, Brun-Gasca, Carme, Rovira-Moreno, Eulalia, Abuli, Anna, Codina-Sola, Marta, Valenzuela, Irene et al. DOI: 10.1002/jgc4.1354
PMID: 34096446 Journal: Journal of Maternal-Fetal & Neonatal Medicine Year: 2021 Reference: J Matern Fetal Neonatal Med. 2021 Jun 6:1-4. doi: 10.1080/14767058.2021.1934444. Impact factor: 2.398 Publication type: Paper in international publication Authors: Martos Rodriguez, Marta, Guillen, Gabriela, Lopez-Fernandez, Sergio, Martin Gimenez, Marta, Ruiz, Cesar W, Ribes, Carmen, Lopez, Manuel, Molino, Jose Andres et al. DOI: 10.1080/14767058.2021.1934444
PMID: 34068396 Journal: Genes Year: 2021 Reference: Genes (Basel). 2021 May 13;12(5). pii: genes12050738. doi: 10.3390/genes12050738. Impact factor: 4.096 Publication type: Paper in international publication Authors: Perez-Jurado, Luis A, Pacio-Miguez, Marta, Gomez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrion, Juan, Arias, Patricia, Almoguera, Berta, Lopez-Grondona, Fermina, Lorda-Sanchez, Isabel et al. DOI: 10.3390/genes12050738
PMID: 34021390 Journal: EUROPEAN RADIOLOGY Year: 2021 Reference: Eur Radiol. 2021 Dec;31(12):8925-8936. doi: 10.1007/s00330-021-08026-1. Epub 2021 May 22. Impact factor: 5.315 Publication type: Paper in international publication Authors: Tolboom, Nelleke, Spijkers, Suzanne, Littooij, Annemieke S, Kwee, Thomas C, Enriquez, Goya, Sabado, Constantino, Miller, Elka, Granata, Claudio, de Lange, Charlotte, Verzegnassi, Federico et al. DOI: 10.1007/s00330-021-08026-1
PMID: 33194912 Journal: Frontiers in Pediatrics Year: 2020 Reference: Front Pediatr. 2020 Oct 23;8:580584. doi: 10.3389/fped.2020.580584. eCollection 2020. Impact factor: 2.634 Publication type: Paper in international publication Authors: Ribes Bautista, Carmen, Fernandez Colomer, Belen, Sanchez-Luna, Manuel, de Alba Romero, Concepcion, Alarcon, Ana, Bana Souto, Ana, Camba Longueira, Fatima, Cernada, Maria, Galve Pradell, Zenaida, Gonzalez Lopez, Maria et al. DOI: 10.3389/fped.2020.580584
PMID: 33182294 Journal: Journal of Clinical Medicine Year: 2020 Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603. Impact factor: 3.303 Publication type: Paper in international publication Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al. DOI: 10.3390/jcm9113603
PMID: 32896090 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2020 Reference: Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8. Impact factor: 2.125 Publication type: Letter or abstract Authors: Mur, Pilar, Valenzuela, Irene, Codina, Marta, Fernandez-Alvarez, Paula, Cusco, Ivon, Tizzano, Eduardo F, Valle, Laura et al. DOI: 10.1002/ajmg.a.61839
PMID: 32619640 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2020 Reference: J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. Impact factor: 5.553 Publication type: Paper in international publication Authors: Mencarelli, Maria Antonietta, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel et al. DOI: 10.1016/j.jmoldx.2020.06.008
PMID: 31413120 Journal: JOURNAL OF MEDICAL GENETICS Year: 2019 Reference: J Med Genet. 2019 Dec;56(12):801-808. doi: 10.1136/jmedgenet-2019-106080. Epub 2019 Aug 14. Impact factor: 5.899 Publication type: Paper in international publication Authors: Codina-Sola, Marta, Costa-Roger, Mar, Perez-Garcia, Debora, Flores, Raquel, Palacios-Verdu, Maria Gabriela, Cusco, Ivon, Perez-Jurado, Luis Alberto et al. DOI: 10.1136/jmedgenet-2019-106080
PMID: 31349698 Journal: Cells Year: 2019 Reference: Cells. 2019 Jul 25;8(8). pii: cells8080773. doi: 10.3390/cells8080773. Impact factor: 5.656 Publication type: Paper in international publication Authors: Sole, Cristina, Moline, Teresa, Vidal, Marta, Ordi-Ros, Josep, Cortes-Hernandez, Josefina et al. DOI: 10.3390/cells8080773
PMID: 31301241 Journal: ANNALS OF NEUROLOGY Year: 2019 Reference: Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24. Impact factor: 9.496 Publication type: Paper in international publication Authors: Mendonca, Rodrigo H, Rocha, Antonio J, Lozano-Arango, Andres, Diaz, Astry B, Castiglioni, Claudia, Silva, Andre M S, Reed, Umbertina C, Kulikowski, Leslie, Paramonov, Ida, Cusco, Ivon et al. DOI: 10.1002/ana.25549
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: 28281571 Journal: Scientific Reports Year: 2017 Reference: Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Impact factor: 4.259 Publication type: Paper in international publication Authors: Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Hector, Mort-Farre, Silvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan et al. DOI: 10.1038/srep44138
PMID: 27891588 Journal: BRITISH JOURNAL OF HAEMATOLOGY Year: 2017 Reference: Br J Haematol. 2017 Feb;176(4):637-642. doi: 10.1111/bjh.14452. Epub 2016 Nov 28. Impact factor: 5.67 Publication type: Paper in international publication Authors: Kwee, Thomas C, Littooij, Annemieke S, Granata, Claudio, Beishuizen, Auke, de Lange, Charlotte, Zennaro, Floriana, Bruin, Marrie C A, Nievelstein, Rutger A J, Verbeke, Jonathan I M L, Enriquez, Goya et al. DOI: 10.1111/bjh.14452
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.
