Xavier de la Cruz

Xavier de la Cruz

Vall d'Hebron Institut de Recerca

Life & Medical Sciences

My career revolves around the application of in silico tools to address biological questions. My Ph.D. was about the study of the protein structure principles underlying function, a work that I pursued in my stay at the NIH (1993-1997) and the UCL (1997-2000). After joining ICREA, this topic has focused most of my activities (PCB, 2001-2009; IBMB-CSIC, 2009-2012). However, my interests have gradually shifted towards the study of translational problems in biomedicine. In this direction, in 2012, I joined the Vall d'Hebron Institute of Research (VHIR), to enhance the applicability of our work on the pathogenicity of genetic variants, bringing it closer to healthcare stakeholders. Our efforts have recently (2018-2019) gained international recognition after our participation in the prestigious CAGI 5/ENIGMA contest, where we ranked in the second position in the groups' classification. 

Research interests

Our main research aims at understanding the molecular basis of hereditary disease, integrating two complementary aspects: the molecular impact of causative variants and how genetic background regulates the propagation of this impact. At a technical level, to reach our objective, we integrate the results of the most advanced genomic experiments (single-cell, Hi-C, etc.) using state-of-the-art machine learning tools. To enhance the biomedical reach of our research, we work in collaboration with clinical groups from different hospitals. As a result of these efforts, we have recently made significant advances in understanding the functional effect of BRCA1/2 protein variants underlying hereditary breast and ovarian cancers. Finally, mention that we are also devoting an important part of our efforts to the fundamental study of epigenetic processes, to reach a full picture of which phenomena contribute to the generation of phenotype and, more precisely, of clinical phenotype. 

Selected publications

- Bryant, L, ..., de la Cruz, X, ..., Bhoj, E, 2020 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, 6 : eabc9207

- Vinas-Gimenez, L; Padilla, N; Batlle-Maso, L; Casals, F; Riviere, J G; Martinez-Gallo, M; de la Cruz, X; Colobran, R 2020, 'FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis', Frontiers In Immunology, 11, 107.

- Viñas-Gimenez, L; Donadeu, L; Alsina, L; Rincon, R; De la Campa, EA; Esteve-Sole, A; Catala, A; Colobran, R; De la Cruz, X; Sayos, J; Martinez-Gallo, M, 2020, 'Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity', International Journal Of Hematology, 111, 3, 440 - 450.

Selected research activities

Organizer and Scientific Responsible of the Forum on Machine Learning and Artificial Intelligence, a series of byweely talks held at the Vall d'Hebron Institute of Research (VHIR) on the application of ML/AI to the clinical.