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: 39623216 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2024 Reference: Eur J Hum Genet. 2024 Dec 2. doi: 10.1038/s41431-024-01751-3. Impact factor: Publication type: Paper in international publication Authors: Abellan, Fernando; Abuli, Anna; Garcia-Planells, Javier; Guillen, Juan Jose; Guillen-Navarro, Encarna; Oancea-Ionescu, Raluca; Quiroga, Ramiro; Rueda, Joaquin; Santos-Simarro, Fernando; Serra, Clara et al. DOI: 10.1038/s41431-024-01751-3
PMID: 37356622 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2023 Reference: J Mol Diagn. 2023 Jun 23:S1525-1578(23)00134-4. doi: 10.1016/j.jmoldx.2023.06.006. Impact factor: Publication type: Paper in international publication Authors: Antolin, Maria; Blasco-Perez, Laura; Camprodon-Gomez, Maria; Garcia-Arumi, Elena; Iranzo-Nuez, Leticia; Lopez-Ortega, Ricard; Martinez-Cruz, Desiree; Tenes, Anna; Tizzano, Eduardo F et al. DOI: 10.1016/j.jmoldx.2023.06.006
PMID: 37384395 Journal: HUMAN MOLECULAR GENETICS Year: 2023 Reference: Hum Mol Genet. 2023 Jun 29:ddad109. doi: 10.1093/hmg/ddad109. Impact factor: Publication type: Paper in international publication Authors: Breslow, David K; Bruel, Ange-Line; Duffourd, Yannis; Ganga, Anil Kumar; Kmoch, Stanislav; Majer, Filip; Martinez-Gil, Nuria; Martinez-Gil, Nuria; Martinovic, Jelena; Mohler, Marketa et al. DOI: 10.1093/hmg/ddad109
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: 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: 35784294 Journal: Frontiers in Immunology Year: 2022 Reference: Front Immunol. 2022 Jun 17;13:897975. doi: 10.3389/fimmu.2022.897975. eCollection 2022. Impact factor: Publication type: Letter or abstract Authors: Batlle-Maso, Laura; Castells, Neus; Colobran, Roger; Dieli-Crimi, Romina; Dieli-Crimi, Romina; Franco-Jarava, Clara; Garcia-Prat, Marina; Martinez-Gallo, Monica; Riviere, Jacques G; Soler-Palacin, Pere et al. DOI: 10.3389/fimmu.2022.897975
PMID: 35732123 Journal: Cell Reports Year: 2022 Reference: Cell Rep. 2022 Jun 21;39(12):110988. doi: 10.1016/j.celrep.2022.110988. Impact factor: Publication type: Paper in international publication Authors: Acemel, Rafael D; Armengol, Carolina; Buschbeck, Marcus; Carrillo-Reixach, Juan; Corujo, David; Del Rio-Alvarez, Alvaro; Garcia-Jaraquemada, Arce; Garrido-Pontnou, Marta; Gomez-Skarmeta, Jose Luis; Le Pannerer, Marguerite-Marie et al. DOI: 10.1016/j.celrep.2022.110988
PMID: 35660139 Journal: LANCET ONCOLOGY Year: 2022 Reference: Lancet Oncol. 2022 Jul;23(7):865-875. doi: 10.1016/S1470-2045(22)00273-X. Epub 2022 Jun 2. Impact factor: Publication type: Paper in international publication Authors: Aguilar-Company, Juan; Andaleeb, Ramis; Apthorp, Eleanor; Apthorp, Eleanor; Aujayeb, Avinash; Baggi, Alice; Bain, Hamish Dc; Bawany, Samira; Belessiotis, Katherine; Benafif, Sarah et al. DOI: 10.1016/S1470-2045(22)00273-X
PMID: 35227301 Journal: Orphanet Journal of Rare Diseases Year: 2022 Reference: Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Impact factor: Publication type: Paper in international publication Authors: Alonso, Miguel Angel; Andres, Raquel; Arevalo, Sara; Balmana, Judith; Barcina, Maria Jesus; Beristain, Elena; Blanco, Ignacio; Boronat, Mauro; Brunet, Joan; Cajal, Teresa Ramon Y et al. DOI: 10.1186/s13023-021-02079-7
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: Publication type: Paper in national publication Authors: Amaro-Rodriguez, Rosanel; Amengual Pieras, Esther; Antolin, Maria; Armengot-Carceller, Miguel; Asensio de la Cruz, Oscar; Baz-Redon, Noelia; Caballero-Rabasco, M Araceli; Camats-Tarruella, Nuria; 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: Publication type: Paper in international publication Authors: Alias, Laura; Bernal, Sara; Blasco-Perez, Laura; Cusco, Ivon; Fuentes-Prior, Pablo; Leno, Jordi; Paramonov, Ida; Tizzano, Eduardo F et al. DOI: 10.1002/humu.24200
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: Publication type: Letter or abstract Authors: Caino, Silvia; Cueto, Anna Maria; Del Pozo, Angela; Fano, Virginia; Garcia-Minaur, Sixto; Gonzalez-Moran, Gaspar; Heath, Karen E; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parron-Pajares, Manuel et al. DOI: 10.1002/ajmg.a.62010
PMID: 32926442 Journal: PRENATAL DIAGNOSIS Year: 2021 Reference: Prenat Diagn. 2021 Jan;41(1):123-135. doi: 10.1002/pd.5829. Epub 2020 Sep 30. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Arevalo, Silvia; Carreras, Elena; Castells, Neus; Maiz, Nerea; Plaja, Alberto; Rodo, Carlota; Santirocco, Maddalena; Tizzano, Eduardo; Valenzuela, Irene et al. DOI: 10.1002/pd.5829
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: Publication type: Paper in international publication Authors: Gallego, S; Gallo-Oller, G; Garrido, M; Giralt, I; Guillen, G; Hladun, R; Magdaleno, A; Molist, C; Moreno, L; Navarro, N 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: Publication type: Paper in international publication Authors: Aguilo-Cucurull, Aina; Antolin, Maria; Blasco-Perez, Laura; Colobran, Roger; Franco-Jarava, Clara; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Paramonov, Ida; Riviere, Jacques G; Soler-Palacin, Pere et al. DOI: 10.3389/fimmu.2020.00046
PMID: 31882184 Journal: NEUROMUSCULAR DISORDERS Year: 2020 Reference: Neuromuscul Disord. 2020 Jan;30(1):93-103. doi: 10.1016/j.nmd.2019.11.002. Epub 2019 Nov 9. Impact factor: Publication type: Paper in international publication Authors: Burghes, Arthur; Dangouloff, Tamara; Servais, Laurent; Tizzano, Eduardo F et al. DOI: 10.1016/j.nmd.2019.11.002
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: Publication type: Paper in international publication Authors: Alcantara, Soledad; Armstrong, Judith; Blasco, Laura; Brandi, Nuria; Castells, Aina Alba; Catala, Vicenc; Del Campo, Miguel; Fernandez-Ramos, Joaquin Alejandro; Gean, Esther; Guillen, Encarna et al. DOI: 10.1111/cge.13718
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: Publication type: Paper in international publication Authors: Andres, Mara; Astigarraga, Itziar; Balague, Olga; Campo, Elias; Celis, Veronica; de la Maya, Maria Dolores; Ferrandez, Antonio; Garcia-Bragado, Federico; Garrido, Marta; Gonzalez-Farre, Blanca 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: Publication type: Paper in international publication Authors: Armengol, Lluis; Fernandez-Alvarez, Paula; Rodriguez-Santiago, Benjamin; Segura-Puimedon, Maria; Tizzano, Eduardo; Valenzuela, Irene; Vendrell, Teresa et al. DOI: 10.1016/j.ejmg.2018.07.007
PMID: 30025162 Journal: MUSCLE & NERVE Year: 2019 Reference: Muscle Nerve. 2019 Jan;59(1):137-141. doi: 10.1002/mus.26305. Epub 2018 Dec 16. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Fardeau, Michel; Labasse, Clemence; Laporte, Jocelyn; Lornage, Xaviere; Lubieniecki, Fabiana; Madelaine, Angeline; Malfatti, Edoardo; Monges, Soledad; Pinto, Miguel M et al. DOI: 10.1002/mus.26305
PMID: 30792901 Journal: npj Genomic Medicine Year: 2019 Reference: NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Ajay, Subramanian S; Belmont, John W; Bentley, David R; Del Campo, Miguel; Galarreta, Carolina I; Gross, Andrew; Jones, Marilyn C; Masser-Frye, Diane; McEachern, Julia; Perry, Denise L et al. DOI: 10.1038/s41525-018-0076-1
PMID: 29146176 Journal: TOXICON Year: 2018 Reference: Toxicon. 2018 Jan;141:15-17. doi: 10.1016/j.toxicon.2017.11.004. Epub 2017 Nov 13. Impact factor: Publication type: Paper in international publication Authors: Al Ghumgham, Zaki; Del Campo, Miguel; Lagos, Nestor; Montero, Cecilia; Riquelme, Gricel; Sepulveda, Joaquin M et al. DOI: 10.1016/j.toxicon.2017.11.004
PMID: 29293472 Journal: JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS Year: 2018 Reference: J Dev Behav Pediatr. 2018 Jan;39(1):81-84. doi: 10.1097/DBP.0000000000000528. Impact factor: Publication type: Paper in international publication Authors: Braddock, Adam; Del Campo, Miguel; Reiff, Michael I; Stein, Martin T et al. DOI: 10.1097/DBP.0000000000000528
PMID: 29524730 Journal: EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY Year: 2018 Reference: Eur J Med Chem. 2018 Apr 25;150:74-86. doi: 10.1016/j.ejmech.2018.02.082. Epub 2018 Feb 27. Impact factor: Publication type: Paper in international publication Authors: Becker, Maria Ines; Del Campo, Miguel; Lopez, Mercedes N; Palacios, Miriam; Salazar-Onfray, Flavio; Tampe, Ricardo; Zhong, Ta-Ying et al. DOI: 10.1016/j.ejmech.2018.02.082
PMID: NOPMID0074 Journal: CASE REPORTS IN PERINATAL MEDICINE Year: 2018 Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025 Impact factor: 0 Publication type: Paper in international publication Authors: Valenzuela, Irene, Lines, Marcos, Martinez-Saez, Elena, Cueto-Gonzalez, Ana, Castillo, Felix, Tizzano, Eduardo et al. DOI: 10.1515/crpm-2017-0025
PMID: 28263001 Journal: JOURNAL OF BONE AND MINERAL RESEARCH Year: 2017 Reference: J Bone Miner Res. 2017 Jul;32(7):1575-1581. doi: 10.1002/jbmr.3121. Epub 2017 May 11. Impact factor: Publication type: Paper in international publication Authors: Cabezudo, Elena; Diez-Perez, Adolfo; Esteve, Jordi; Guerri-Fernandez, Roberto; Hernandez, Albert; Herrera, Sabina; Molto-Abad, Marc; Nogues, Xavier; Novelli, Silvana; Perez-Lopez, Jordi et al. DOI: 10.1002/jbmr.3121
PMID: 28224082 Journal: Molecular genetics and metabolism reports Year: 2017 Reference: Mol Genet Metab Rep. 2017 Feb 3;10:92-95. doi: 10.1016/j.ymgmr.2017.01.011. eCollection 2017 Mar. Impact factor: Publication type: Paper in international publication Authors: Ceberio-Hualde, L; Garcia-Morillo, J S; Grau-Junyent, J M; Hermida Ameijeiras, A; Lopez-Rodriguez, M; Milisenda, J C; Molto Abad, M; Morales-Conejo, M; Nava Mateos, J J; Perez-Lopez, J et al. DOI: 10.1016/j.ymgmr.2017.01.011
PMID: 28168976 Journal: MEDICINA CLINICA Year: 2017 Reference: Med Clin (Barc). 2017 Jul 21;149(2):75-77. doi: 10.1016/j.medcli.2016.12.027. Epub 2017 Feb 4. Impact factor: Publication type: Review in national publication Authors: Tizzano Ferrari, Eduardo et al. DOI: 10.1016/j.medcli.2016.12.027
PMID: 27729236 Journal: European Journal of Medical Genetics Year: 2017 Reference: Eur J Med Genet. 2017 Jan;60(1):55-64. doi: 10.1016/j.ejmg.2016.10.004. Epub 2016 Oct 10. Impact factor: Publication type: Paper in international publication Authors: Del Campo, Miguel; Jones, Kenneth Lyons et al. DOI: 10.1016/j.ejmg.2016.10.004
PMID: 0003nopmid Journal: Prog Obstet Ginecol Year: 2015 Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473 Impact factor: 0 Publication type: Paper in national publication Authors: Plaja Rustein, Alberto, Campo Casanelles, Miguel del, Casals, Elena, Figueras, Francesc, Chica, Rosana de la, Armengol, Lluis, Cirigliano , Vincenzo, Borrell, Antoni et al. DOI: 10.1016/j.pog.2015.05.003
PMID: 25898808 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2015 Reference: Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. Impact factor: 2.159 Publication type: Paper in international publication Authors: Garg, Abhimanyu, Kircher, Martin, Del Campo, Miguel, Amato, R Stephen, Agarwal, Anil K et al. DOI: 10.1002/ajmg.a.37115
PMID: 25703627 Journal: HUMAN MUTATION Year: 2015 Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Impact factor: 5.144 Publication type: Review in national publication Authors: Syx, Delfien, Van Damme, Tim, Symoens, Sofie, Maiburg, Merel C, van de Laar, Ingrid, Morton, Jenny, Suri, Mohnish, Del Campo, Miguel, Hausser, Ingrid, Hermanns-Le, Trinh et al. DOI: 10.1002/humu.22774
PMID: 26382598 Journal: CYTOGENETIC AND GENOME RESEARCH Year: 2015 Reference: Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Impact factor: 1.561 Publication type: Paper in international publication Authors: Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodriguez-Santiago, Benjamin, Carrio, Anna, Miro, Rosa, Tizzano, Eduardo, Vendrell, Teresa, del Campo, Miguel, Castells, Neus et al. DOI: 10.1159/000439463
PMID: 25196541 Journal: HUM MUTAT Year: 2014 Reference: Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Impact factor: 5.122 Publication type: Paper in international publication Authors: Tenorio, Jair, Mansilla, Alicia, Valencia, Maria, Martinez-Glez, Victor, Romanelli, Valeria, Espejo Portero, Isabel, Ruiz-Perez, Victor L, Lapunzina, Pablo, Plasencia, A, Rosa, Alberto L et al. DOI: 10.1002/humu.22689
PMID: 25200617 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2014 Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Impact factor: 3.342 Publication type: Letter or abstract Authors: Teixido-Tura, Gisela, Valenzuela, Irene, Gutierrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur et al. DOI: 10.1016/j.rec.2014.06.003
PMID: 25015250 Journal: MED CLIN-BARCELONA Year: 2014 Reference: Med Clin (Barc). 2014 Dec 23;143(12):e23. doi: 10.1016/j.medcli.2014.05.016. Epub 2014 Jul 9. Impact factor: 1.252 Publication type: Paper in national publication Authors: Cueto Gonzalez, Ana Maria, Yela Verdu, Christian, May Llanes, Maria Elena, de Pablo Marquez, Bernat et al. DOI: 10.1016/j.medcli.2014.05.016
PMID: 25720458 Journal: CYTOGENET GENOME RES Year: 2014 Reference: Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. Impact factor: 1.905 Publication type: Paper in international publication Authors: Lloveras, Elisabet, Vendrell, Teresa, Fernandez, Asuncion, Castells, Neus, Cueto, Ana, Del Campo, Miguel, Hernando, Cristina, Villa, Olaya, Plaja, Alberto et al. DOI: 10.1159/000375184
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.
