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.
Our main research aims at understanding the molecular basis of hereditary disease, integrating two complementary aspects: the molecular impact of genetic variants and the regulatory role of genetic background. At a technical level, to reach our objective, we integrate the results of the most advanced genomic experiments (single-cell RNAsq, NGS sequencing, etc.) using state-of-the-art machine learning tools.
As a result of our efforts, we have recently made significant advances in understanding the functional effect of BRCA1/2 protein variants underlying hereditary breast and ovarian cancers. In fact, the methodology developed earned us the second position in the group classification at the international competition CAGI 5, held in 2019.
IP: -
Since a few years ago, we have been working in the development of computational tools for the prediction of pathological mutations in proteins (PMID: 11812146, 15390262, 15879453, 16208716, 17059831). In this work we have followed a two-step approach. First, we have characterized pathological mutations in terms of sequence, structure and evolutionary properties (PMID: 11812146). Second, we have used the results of this descriptive work to identify those parameters with the best predictive power. Also we have used these results to train a neural network and obtain an empirical model that allows the identification of disease-causing mutations with moderately high accuracies (around 70%; PMID: 15390262, 15879453, 16208716).
At present, we are applying this approach to the case of specific diseases. We believe that this is a natural step towards the advancement of personalized medicine. Within this context, we are characterizing the impact on the structure and function of alpha-galactosidase of Fabry disease-causing mutations. Again our approach is the same as in the general case, but here we are benefitting from the close collaboration with the group of Dr. Joan Montaner.
IP: Fco. Xavier De la Cruz Montserrat
IP: Matilde Lleonart Pajarin Collaborators: Yoelsis Garcia Mayea, Fco. Xavier De la Cruz Montserrat, Juan Lorente Guerrero, Cristina Mir Perez, Natalia Padilla Sirera, Marina Bataller Fernández, Almudena Sanchez Garcia, Selen Ozkan Funding agency: AGAUR no fer servir-correcte 4301-37 Funding: 0.01 Reference: 2021 SGR 01205 Duration: 01/01/2022 - 31/12/2024
IP: Fco. Xavier De la Cruz Montserrat Collaborators: Natalia Padilla Sirera, Selen Ozkan Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 219650 Reference: TED2021-130342B-I00 Duration: 01/12/2022 - 30/11/2024
IP: Fco. Xavier De la Cruz Montserrat Collaborators: Natalia Padilla Sirera, Selen Ozkan Funding agency: Ministerio de Ciencia e Innovación-MICINN Funding: 133100 Reference: PID2019-111217RB-I00 Duration: 01/06/2020 - 31/05/2023
PMID: 35143952 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2022 Reference: J Mol Diagn. 2022 Apr;24(4):406-425. doi: 10.1016/j.jmoldx.2022.01.005. Epub 2022 Feb 7. Impact factor: 5.568 Publication type: Paper in international publication Authors: Galano-Frutos, Juan Jose; Garcia-Cebollada, Helena; Lopez, Alfonso; Rosell, Mireia; Cruz, Xavier de la; Fernandez-Recio, Juan; Sancho, Javier et al. DOI: 10.1016/j.jmoldx.2022.01.005
PMID: 31294896 Journal: HUMAN MUTATION Year: 2019 Reference: Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23. Impact factor: 4.453 Publication type: Paper in international publication Authors: Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T, Spurdle, Amanda B, Goldgar, David E, Savojardo, Castrense, Riera, Casandra, Radivojac, Predrag, Pejaver, Vikas et al. DOI: 10.1002/humu.23861
PMID: 31267011 Journal: Scientific Reports Year: 2019 Reference: Sci Rep. 2019 Jul 2;9(1):9538. doi: 10.1038/s41598-019-45916-3. Impact factor: 4.011 Publication type: Paper in international publication Authors: Marin, Oscar, Aguirre, Josu, de la Cruz, Xavier et al. DOI: 10.1038/s41598-019-45916-3
PMID: 31112341 Journal: HUMAN MUTATION Year: 2019 Reference: Hum Mutat. 2019 Sep;40(9):1593-1611. doi: 10.1002/humu.23802. Epub 2019 Jul 3. Impact factor: 4.453 Publication type: Paper in international publication Authors: Bonache, Sandra, Padilla, Natalia, Moles-Fernandez, Alejandro, Riera, Casandra, Montalban, Gemma, Ozkan, Selen, Ootes, Lars, de la Cruz, Xavier, Gutierrez-Enriquez, Sara, Diez, Orland et al. DOI: 10.1002/humu.23802
PMID: 30934865 Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Year: 2019 Reference: Int J Mol Sci. 2019 Mar 29;20(7). pii: ijms20071583. doi: 10.3390/ijms20071583. Impact factor: 4.183 Publication type: Paper in international publication Authors: Navio, Damaris, Rosell, Mireia, Aguirre, Josu, de la Cruz, Xavier, Fernandez-Recio, Juan et al. DOI: 10.3390/ijms20071583
PhD student: Natalia Padilla Sirera, Natalia Padilla Sirera Director/s: Fco. Xavier De la Cruz Montserrat University: Universidad Autònoma de Barcelona Year: 2020
PhD student: Elena Álvarez de la C Crespo Director/s: Fco. Xavier De la Cruz Montserrat University: Universitat de Barcelona Year: 2019
PhD student: Francisco Martín Bandera Director/s: Fco. Xavier De la Cruz Montserrat University: Universitat de Barcelona Year: 2018
PhD student: Oscar Marín Sala Director/s: Fco. Xavier De la Cruz Montserrat University: Universidad Autònoma de Barcelona Year: 2017
PhD student: Maria Casandra Riera Ribas Director/s: Fco. Xavier De la Cruz Montserrat University: Universidad Autònoma de Barcelona Year: 2016
The Clinical and Translational Bioinformatics Group at VHIR has been responsible for the computational analysis of two international genetic studies led by the Children's Hospital of Philadelphia.
The Clinical and Translational Bioinformatics group is launching the project to use cutting-edge artificial intelligence in the identification of pathogenic variants.
