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: 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: 44.182 Publication type: Paper in international publication Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al. DOI: 10.1016/S1474-4422(21)00367-7
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: 5.534 Publication type: Paper in international publication Authors: Schwartz, David A; Avvad-Portari, Elyzabeth; Babal, Pavel; Baldewijns, Marcella; Blomberg, Marie; Bouachba, Amine; Saad, Ali G; Sand, Anna; Schoenmakers, Sam; Sehn, Jennifer K et al. DOI: 10.5858/arpa.2022-0029-SA
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: 2.802 Publication type: Paper in international publication Authors: Valenzuela, Irene; Guillen Benitez, Elena; Sanchez-Montanez, Angel; Limeres, Javier; Lopez-Grondona, Fermina; Cusco, Ivon; Tizzano, Eduardo F et al. DOI: 10.1002/ajmg.a.62596
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: 9.423 Publication type: Paper in international publication Authors: Raurell, Helena; Perez-Gonzalez, Beatriz; Royo, Laura; Del Rio-Alvarez, Alvaro; Perez, Ainhoa; Valero, Vanesa; Le Pannerer, Marguerite-Marie; Garcia-Jaraquemada, Arce; Meers, Oliver; Carrillo-Reixach, Juan et al. DOI: 10.1016/j.celrep.2022.110988
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: 33039313 Journal: Pediatrics and Neonatology Year: 2021 Reference: Pediatr Neonatol. 2021 Jan;62(1):113-114. doi: 10.1016/j.pedneo.2020.09.005. Epub 2020 Sep 19. Impact factor: 2.083 Publication type: Paper in international publication Authors: Fernandez-Garcia, Cristina, Montaner-Ramon, Alicia, Hernandez-Perez, Susana, Camba-Longueira, Fatima, Ribes-Bautista, Carmen, Frick, Marie Antoinette, Castillo-Salinas, Felix et al. DOI: 10.1016/j.pedneo.2020.09.005
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
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.
