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: 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: 7.561 Publication type: Letter or abstract Authors: Valenzuela, Irene; Franco-Jarava, Clara; Colobran, Roger; Batlle-Maso, Laura; Castells, Neus; Dieli-Crimi, Romina; Martinez-Gallo, Monica; Garcia-Prat, Marina; Riviere, Jacques G; Soler-Palacin, Pere et al. DOI: 10.3389/fimmu.2022.897975
PMID: 34708400 Journal: CLINICAL GENETICS Year: 2022 Reference: Clin Genet. 2022 Jan;101(1):144-145. doi: 10.1111/cge.14078. Epub 2021 Oct 27. Impact factor: 4.438 Publication type: Letter or abstract Authors: Gawlinski, Pawel; Lasa-Aranzasti, Amaia; Martinez-Soroa, Itziar; Artola Aizalde, Elena; Saez Villaverde, Raquel; Aguirre Rodriguez, Cristina; Satrustegi Aritziturri, Miren; Hernandez Dorronsoro, Unai et al. DOI: 10.1111/cge.14078
PMID: 35833929 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 Jul 13. pii: S1098-3600(22)00816-4. doi: 10.1016/j.gim.2022.06.007. Impact factor: 8.822 Publication type: Paper in international publication Authors: Kini, Usha, Ockeloen, Charlotte W, de Boer, Elke, Kampen, Rosalie A, Lasa-Aranzasti, Amaia, Hampstead, Juliet E, Rots, Dmitrijs, Helm, Benjamin M, Goos, Jacqueline A C, Genevieve, David et al. DOI: 10.1016/j.gim.2022.06.007
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: 4.123 Publication type: Paper in international publication Authors: Arevalo, Sara, Del Mar Arias, Maria, Balmana, Judith, Beristain, Elena, Blanco, Ignacio, Boronat, Mauro, Brunet, Joan, Cozar, Maria Victoria, Del Campo, Miguel, Diaz, Arantza et al. DOI: 10.1186/s13023-021-02079-7
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
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.
