Xavier de la Cruz

Vall d'Hebron Institut de Recerca

Life & Medical Sciences

My career revolves around the application of bioinformatics tools to biological problems. My Ph.D. was about the study of the protein structure principles underlying function, a work that I extended during my stay at the NIH (1993-1997) and the UCL (1997-2000). This topic is at the core of my subsequent activities as ICREA researcher (PCB, 2001-2009; IBMB-CSIC, 2009-2012), although it has gradually evolved towards the study of pathological mutations. In 2012, I joined the Institute of Research at the Vall d'Hebron Hospital (VHIR), to increase the applicability of our work, and bring it closer to healthcare professionals and patients. As part of this effort, we are trying to involve all stakeholders in the health system, including companies. 

Research interests

Since we joined the Institute of Research of the Vall d'Hebron Hospital, our first goal has been the understanding of the molecular-level processes underlying disease, focusing on the impact that sequence variants have on protein structure and function. Our approach is computational and aims at the obtention of predictive models that summarize large amounts of biological information. We are making a real effort to translate our results into actual improvements in patient care, working together with hospital teams involved in molecular medicine. In the last years, we have started an original approach to asses the applicability of bioinformatics tools in the hospital scenario, by developing cost models that will allow a better assessment of their value.

Selected publications

- Alvarez de la Campa E, Padilla N & de la Cruz X 2017, 'Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence', Bmc Genomics, 18, 569.

- Asensio-Juan E, Fueyo R, Pappa S, Iacobucci S, Badosa C, Lois S, Balada M, Bosch-Presegue L, Vaquero A, Gutierrez S, Caelles C, Gallego C, de la Cruz X & Martinez-Balbas MA 2017, 'The histone demethylase PHF8 is a molecular safeguard of the IFN gamma response', Nucleic Acids Research, 45, 7, 3800 - 3811.

- López-Ferrando V, Gazzo A, de la Cruz X, Orozco M & Gelpí JL 2017, 'PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update', Nucleic Acids Res, vol 45, Web Server Issue, pp W222-W228.  

- Vargas-Parra GM, Gonzalez-Acosta M, Thompson BA, Gomez C, Fernandez A, Damaso E, Pons T, Morak M, del Valle J, Iglesias S, Velasco A, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadalo L, Lazaro C, Navarro M, Pineda M & Capella G 2017, 'Elucidating the molecular basis of MSH2-deficienttumors by combined germline and somatic analysis', International Journal Of Cancer, 141, 7, 1365 - 1380.

- Franco-Jarava C, Alvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, Garcia-Prat M, de la Cruz X, Martin-Nalda A, Soler-Palacin P, Hernandez-Gonzalez M & Colobran R 2017, 'Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations', Journal Of Clinical Immunology, 37, 8, 781 - 789.

Selected research activities

Conference Organization:

* Co-organizer "V Jornada de Bioinformàtica i Genòmica", Annual Meeting of the Societat Catalana de Biologia and Bioinformatics Barcelona

Bringing Science to School: 

* "El compte enrere: quant falta per a poder diagnosticar totes les malalties hereditàries?" conference Dia de la Ciència a les Escoles (Mollet del Vallès)