ICREA (Institució Catalana de Recerca i Estudis Avançats) Research Professor desde 2001.
During my career, I have focused on two main research areas: (i) the molecular-level study of biological processes, using models that incorporate different sources of information (e.g., biophysical, structural and biochemical principles, etc.); (ii) the design/development of the computational tools required for the biomedical application of our research. This duality is reflected in my publication profile.
Presently, my 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, in my group we combine the results of the most advanced genomic experiments (single-cell, Hi-C, etc.) using state-of-the-art machine learning tools. Toenhance 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 work 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.