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 year (2018), we have made significant advances in understanding the functional effect of BRCA1/2 protein variants underlying hereditary breast and ovarian cancers.

Selected publications

– Fueyo R, Iacobucci S, Pappa S, Estarás C, Lois S, Vicioso-Mantis M, Navarro C, Cruz-Molina S, Carlos Reyes J, Rada-Iglesias A, de la Cruz X & Martínez-Balbás MA 2018, ‘Lineage specific transcription factors and epigenetic regulators mediate TGF -dependent enhancer activationNucleic Acids Res, 46:3351-3365.

– Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B 2018, ‘Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants‘, Orphanet J Rare Dis. 13:125

Selected research activities

Sharing our research:

– “Understanding the static component of systems biology: sequence variability from molecules to networks”, Invited talk for the celebration of Dia de la Immunologia,  Acadèmia de Ciències Mèdiques i de la Salut de Catalunya i de Balears, Barcelona.

– Opening new paths: our student Natàlia Padilla has received the ‘Best Poster Award’ from the Science Editor at the HGM 2018, Yokohama, Japan, for her work ‘Co-location of paralogs in TADs may explain why the effect of some deleterious mutations in suppressed’.