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: 37691296 Journal: Annals of Clinical and Translational Neurology Year: 2023 Reference: Ann Clin Transl Neurol. 2023 Sep 10. doi: 10.1002/acn3.51889. Impact factor: Publication type: Paper in international publication Authors: Benguerba, Kamal; De Vivo, Darryl C; Desguerre, Isabelle; Faulkner, Eric; Finkel, Richard S; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M; Quijano-Roy, Susana et al. DOI: 10.1002/acn3.51889
PMID: 37737566 Journal: EMBO JOURNAL Year: 2023 Reference: EMBO J. 2023 Sep 22:e114719. doi: 10.15252/embj.2023114719. Impact factor: Publication type: Paper in international publication Authors: Alonso-Maranon, Josune; Alvarez-Villanueva, Daniel; Bertran, Joan; Bertran, Joan; Bigas, Anna; Bonfill-Teixidor, Ester; Borras, Eva; Espinosa, Lluis; Garcia-Hernandez, Violeta; Garrido, Marta et al. DOI: 10.15252/embj.2023114719
PMID: 37762546 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2023 Reference: Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Impact factor: Publication type: Paper in international publication Authors: Alders, Marielle; Campos, Berta; Castells, Neus; Haghshenas, Sadegheh; Henneman, Peter; Lasa-Aranzasti, Amaia; Levy, Michael A; Maas, Saskia; Mannens, Marcel M A M; McConkey, Haley et al. DOI: 10.3390/ijms241814240
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: 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: 8.822 Publication type: Letter or abstract Authors: Cueto-Gonzalez, Anna Ma, Fernandez-Alvarez, Paula, Palafoll, Irene Valenzuela, Lasa-Aranzasti, Amaia, Vendrell Bayona, Teresa, Tizzano, Eduardo F et al. DOI: 10.1016/j.gim.2021.11.007
PMID: 34286374 Journal: EUROPEAN JOURNAL OF PEDIATRICS Year: 2022 Reference: Eur J Pediatr. 2022 Jan;181(1):287-294. doi: 10.1007/s00431-021-04175-z. Epub 2021 Jul 20. Impact factor: 3.183 Publication type: Paper in international publication Authors: Fernandez-Alvarez, Paula, Codina-Sola, Marta, Balcells, Joan, Izquierdo-Blasco, Jaume, Gran, Ferran, Garrido, Marta, Dolader, Paola, Fidalgo, Andrea, Navarro, Alexandra, Sabate-Rotes, Anna et al. DOI: 10.1007/s00431-021-04175-z
PMID: 35018708 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2022 Reference: Am J Med Genet A. 2022 May;188(5):1396-1406. doi: 10.1002/ajmg.a.62648. Epub 2022 Jan 12. Impact factor: 2.802 Publication type: Paper in international publication Authors: Morales, Jose Andres, Valenzuela, Irene, Cusco, Ivon, Cogne, Benjamin, Isidor, Bertrand, Matalon, Dena R, Gomez-Ospina, Natalia et al. DOI: 10.1002/ajmg.a.62648
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: 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: 3.05 Publication type: Paper in international publication Authors: Santirocco, Maddalena, Plaja, Alberto, Rodo, Carlota, Valenzuela, Irene, Arevalo, Silvia, Castells, Neus, Abuli, Anna, Tizzano, Eduardo, Maiz, Nerea, Carreras, Elena et al. DOI: 10.1002/pd.5829
PMID: 33479162 Journal: PEDIATRICS Year: 2021 Reference: Pediatrics. 2021 Feb;147(2). pii: peds.2020-015065. doi: 10.1542/peds.2020-015065. Impact factor: 7.125 Publication type: Paper in international publication Authors: Fernandez Colomer, Belen, de Alba Romero, Concepcion, Alarcon Allen, Ana, Bana Souto, Ana, Camba Longueira, Fatima, Cernada Badia, Maria, Galve Pradell, Zenaida, Gonzalez Lopez, Maria, Lopez Herrera, M Cruz, Ribes Bautista, Carmen et al. DOI: 10.1542/peds.2020-015065
PMID: 33029631 Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Year: 2021 Reference: J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. Impact factor: 5.958 Publication type: Paper in international publication Authors: Garcia-Arumi, Elena, Blasco-Perez, Laura, Paramonov, Ida, Mogas, Eduard, Soler-Colomer, Laura, Yeste, Diego, Antolin, Maria, Jaimes, Nadya, Campos-Martorell, Ariadna, Clemente, Maria et al. DOI: 10.1210/clinem/dgaa711
PMID: 31738823 Journal: BLOOD Year: 2020 Reference: Blood. 2020 Jan 23;135(4):274-286. doi: 10.1182/blood.2019002699. Impact factor: 17.543 Publication type: Paper in international publication Authors: Azorin, Daniel, Ramis-Zaldivar, Joan Enric, Gonzalez-Farre, Blanca, Balague, Olga, Celis, Veronica, Nadeu, Ferran, Salmeron-Villalobos, Julia, Andres, Mara, Martin-Guerrero, Idoia, Garrido-Pontnou, Marta et al. DOI: 10.1182/blood.2019002699
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: 2.022 Publication type: Paper in international publication Authors: Valenzuela, Irene, Segura-Puimedon, Maria, Rodriguez-Santiago, Benjamin, Fernandez-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluis, Tizzano, Eduardo et al. DOI: 10.1016/j.ejmg.2018.07.007
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.
