Xavier de la Cruz

Vall d'Hebron Institut de Recerca (VHIR)

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. This last year we have started an original approach to assessing the applicability of bioinformatics tools in the hospital scenario, by developing cost models that will allow a better assessment of their value.

Selected publications

– Colobran R, Alvarez de la Campa E, Soler-Palacin P, Martin-Nalda A, Pujol-Borrell R, de la Cruz X, Martínez-Gallo M 2016, ‘Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome’, Clinical Immunology, 163, 60 – 65.

– Akizu N, Garcia MA, Estaras C, Fueyo R, Badosa C, de la Cruz X & Martinez-Balbas MA 2016, ‘EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21’, Open Biology, 6, 4, 150227.

– Riera C, Padilla N & de la Cruz X 2016, ‘The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions’, Human Mutation, 37, 10, 1013 – 1024.

Selected research activities

Organizer of the specialized course “Identificación y análisis de mutaciones en proyectos de secuenciación masiva (exomas y paneles) en biomedicina: una visión práctica” at the Universidad Autónoma de Madrid.

Member of the Red de Excelencia del Ministerio de Economía y Competitividad “Comprensión, predicción y validación del fenotipo de las mutaciones patológicas: transformando los resultados básicos en herramientas de diagnóstico”