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.
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.
- Galano-Frutos JJ, García-Cebollada H, López A, Rosell M, de la Cruz X, Fernández-Recio J & Sancho J 2022, 'An Accurate Online Consensus Tool to Interpret Newborn Screening-Related Genetic Variants in Structural Context', Journal Of Molecular Diagnostics, 24, 4, 406 - 425.
Selected research activities
- I have been chosen by the UIC (Universitat Internacional de Catalunya) as coordinator of the Mention in Bioinformatics in the Biomedicine Degree. Based on my ICREA experience I have designed a program to train new generations of clinical bioinformaticians able to advance Precision Medicine.
- I have been involved in teaching Structural Bioinformatics at the UIC
- Our group has participated in the CAGI 6 challenge with a novel technology for predicting the functional impact of genetic variants. In 2023 the results of the challenge will be available
- We have recently started a collaborative effort with the Faculty of Medicine at the Tel Aviv University and the Teknion-Israel Institute of Technology for understanding the molecular basis of hereditary deafness