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:
IP: -
IP: Perez Dueñas, Belen Collaborators: Maria Victoria Gonzalez Martinez, Ainara Salazar Villacorta, Cazurro Gutierrez, Ana Laura, Amaia Lasa Aranzasti Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 31/12/2024
IP: Lucas Moreno Martín-Retortillo Collaborators: Aroa Soriano Fernández, Marta Garrido Pontnou, Miguel Segura Ginard, Lorena Valero Arrese, Raquel Hladun Alvaro, Elena Antima Martinez Saez, Marta Sese Faustino, Gabriela Guillén Burrieza, Alba Fernández Gómez, Josep Roma Castanyer, Andrea Vilaplana Blanes, Sergio Manresa Vera, Paula Cabre Fernandez, Margarita Ortega Blanco, María Rosario Pérez- Torres Lobato, Asbleidy Carolina Torres Barbosa Funding agency: Instituto de Salud Carlos III Funding: 369260 Reference: PMP21/00073 Duration: 01/01/2022 - 31/12/2025
PMID: 37373745 Journal: Journal of Clinical Medicine Year: 2023 Reference: J Clin Med. 2023 Jun 14;12(12):4052. doi: 10.3390/jcm12124052. Impact factor: Publication type: Paper in international publication Authors: Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Gil-Salvador, Marta; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Pena-Marco, Monica; Pie, Juan; Puisac, Beatriz; Ramos, Feliciano J et al. DOI: 10.3390/jcm12124052
PMID: 37391017 Journal: The journal of allergy and clinical immunology. In practice Year: 2023 Reference: J Allergy Clin Immunol Pract. 2023 Jun 28:S2213-2198(23)00706-7. doi: 10.1016/j.jaip.2023.06.040. Impact factor: Publication type: Paper in international publication Authors: Alobid, Isam; Arismendi, Ebymar; Barranco, Pilar; Barroso, Blanca; Betancor, Diana; Bobolea, Irina; Cardaba, Blanca; Cruz, Maria-Jesus; Curto, Elena; Domenech, Gemma et al. DOI: 10.1016/j.jaip.2023.06.040
PMID: 37555258 Journal: Epidemiology and Psychiatric Sciences Year: 2023 Reference: Epidemiol Psychiatr Sci. 2023 Aug 9;32:e50. doi: 10.1017/S2045796023000628. Impact factor: Publication type: Paper in international publication Authors: Alayo, Itxaso; Alonso, Jordi; Amann, Benedikt L; Amigo, Franco; Aragon-Pena, Andres; Aragones, Enric; Asunsolo Del Barco, Angel; Bruffaerts, Ronny; Campos, Mireia; Del Cura-Gonzalez, Isabel et al. DOI: 10.1017/S2045796023000628
PMID: 37551667 Journal: GENETICS IN MEDICINE Year: 2023 Reference: Genet Med. 2023 Aug 4:100950. doi: 10.1016/j.gim.2023.100950. Impact factor: Publication type: Paper in international publication Authors: Abou Jamra, Rami; Accogli, Andrea; Anyane-Yeboa, Kwame; Baysal, Ozlem; Bend, Renee; Beunders, Gea; Bhola, Priya T; Bosch, Elisabeth; Bruno, Lucia Pia; Campeau, Philippe M et al. DOI: 10.1016/j.gim.2023.100950
PMID: 33910934 Journal: JOURNAL OF MEDICAL GENETICS Year: 2022 Reference: J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. Impact factor: 6.318 Publication type: Paper in international publication Authors: Fernandez-Alvarez, Paula, Codina-Sola, Marta, Valenzuela, Irene, Teixido-Tura, Gisela, Cueto-Gonzalez, Anna, Paramonov, Ida, Antolin, Maria, Lopez-Grondona, Fermina, Vendrell, Teresa, Evangelista, Artur et al. DOI: 10.1136/jmedgenet-2020-107604
PMID: 35579625 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 May 17. pii: S1098-3600(22)00727-4. doi: 10.1016/j.gim.2022.04.010. Impact factor: 8.822 Publication type: Paper in international publication Authors: Dempsey, Jennifer C, Joosten, Marieke, Alby, Caroline, Attie-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Melanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C, Ahlers, Kaitlyn P et al. DOI: 10.1016/j.gim.2022.04.010
PMID: 35567594 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 May 13. pii: S1098-3600(22)00740-7. doi: 10.1016/j.gim.2022.04.011. Impact factor: 8.822 Publication type: Paper in international publication Authors: Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A et al. DOI: 10.1016/j.gim.2022.04.011
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: 4.599 Publication type: Paper in international publication Authors: Carlos, Garcia, Mansilla, Elena, Vallcorba, Isabel, Garcia-Murillo, Pedro, Cammarata-Scalisi, Franco, Goncalves Pereira, Natalya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca et al. DOI: 10.3389/fgene.2022.652454
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: 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: 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: 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: 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: 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: 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: 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
PMID: 26040904 Journal: NEPHROLOGY DIALYSIS TRANSPLANTATION Year: 2015 Reference: Nephrol Dial Transplant. 2015 Sep;30(9):1488-96. doi: 10.1093/ndt/gfv128. Epub 2015 Jun 3. Impact factor: 3.577 Publication type: Paper in international publication Authors: Sole, Cristina, Cortes-Hernandez, Josefina, Felip, Maria L, Vidal, Marta, Ordi-Ros, Josep et al. DOI: 10.1093/ndt/gfv128
PMID: 25194980 Journal: MEDICINA CLINICA Year: 2015 Reference: Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Impact factor: 1.417 Publication type: Paper in national publication Authors: Carcavilla, Atilano, Garcia-Minaur, Sixto, Pinto, Isabel, Guillen-Navarro, Encarna, Gonzalez-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begona, Vendrell, Teresa, Perez-Aytes, Antonio et al. DOI: 10.1016/j.medcli.2014.06.009
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PMID: 24378291 Journal: EAR HEARING Year: 2014 Reference: Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Impact factor: 2.833 Publication type: Paper in international publication Authors: Kremer, Hannie, Admiraal, Ronald J C, Pennings, Ronald J E, Snik, Ad F M, Kunst, Henricus P M, Feenstra, Ilse, Oonk, Anne M M, Leijendeckers, Joop M, Huygen, Patrick L M, Schraders, Margit et al. DOI: 10.1097/AUD.0000000000000008
PMID: 24466005 Journal: PLOS ONE Year: 2014 Reference: PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014 Jan 23. Impact factor: 3.534 Publication type: Paper in international publication Authors: Mondejar, Rufino, Solano, Francisca, Rubio, Rocio, Delgado, Mercedes, Perez-Sempere, Angel, Gonzalez-Meneses, Antonio, Vendrell, Teresa, Izquierdo, Guillermo, Martinez-Mir, Amalia, Lucas, Miguel et al. DOI: 10.1371/journal.pone.0086286
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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.
