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: 35486155 Journal: ARCHIVES OF GYNECOLOGY AND OBSTETRICS Year: 2022 Reference: Arch Gynecol Obstet. 2022 Apr 29. pii: 10.1007/s00404-022-06564-7. doi: 10.1007/s00404-022-06564-7. Impact factor: 2.344 Publication type: Paper in international publication Authors: Carreras, Elena, Mediano-Vizuete, Carmen, Castells-Sarret, Neus, Maiz, Nerea, Coello-Cahuao, Edgar, Sanchez-Duran, Maria Angeles, Calero, Ines, Higueras, Maria Teresa, Garcia, Mayte Aviles, Rodo, Carlota et al. DOI: 10.1007/s00404-022-06564-7
PMID: 35466492 Journal: PEDIATRIC TRANSPLANTATION Year: 2022 Reference: Pediatr Transplant. 2022 Apr 24:e14292. doi: 10.1111/petr.14292. Impact factor: 1.502 Publication type: Paper in international publication Authors: Navarro Jimenez, Alexandra, Garrido Pontnou, Marta, Camacho Soriano, Jessica, Hidalgo Llompart, Ernest, Bilbao Aguirre, Itxarone, Charco Torra, Itzarone, Esperalba, Juliana, Melendo Perez, Susana, Sabado Alvarez, Constantino, Quintero Bernabeu, Jesus et al. DOI: 10.1111/petr.14292
PMID: 34092059 Journal: HAEMATOLOGICA Year: 2022 Reference: Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990. Impact factor: 9.941 Publication type: Paper in international publication Authors: Tovy, Ayala, Rosas, Carina, Gaikwad, Amos S, Medrano, Geraldo, Zhang, Linda, Reyes, Jaime M, Huang, Yung-Hsin, Arakawa, Tastuhiko, Kurtz, Kristen, Conneely, Shannon E et al. DOI: 10.3324/haematol.2021.278990
PMID: 35322194 Journal: MODERN PATHOLOGY Year: 2022 Reference: Mod Pathol. 2022 Jun;35(6):852-853. doi: 10.1038/s41379-022-01064-0. Epub 2022 Mar 23. Impact factor: 7.842 Publication type: Letter or abstract Authors: Nadal, Alfons, Garrido-Pontnou, Marta, Navarro, Alexandra, Camacho, Jessica, Ferreres, Joan Carles et al. DOI: 10.1038/s41379-022-01064-0
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.
