Dott. Isidro Cortes-Ciriano – “Computational cancer genome analysis at a national scale: insights into cancer onset and evolution”
Dott. Isidro Cortes-Ciriano
European Bioinformatics Institute -European Molecular Biology
Laboratory (EMBL-EBI) Hinxton, Cambridge, UK
My laboratory focuses on the development of computational methods to study the mechanisms underpinning cancer genome complexityand evolution, and to harness novel technologies applicable inclinical settings to improve early cancer detection and treatment selection. In this talk, I will first discuss our work on the characterization of the mechanisms underpinning theevolutionary trajectories of the diverse spectrum of complex genomic rearrangementsobserved across diverse cancer types, such as chromothripsis. Specifically, I willpresent the discovery of a novel rearrangement mechanism, loss-translocation-amplification (LTA) chromothripsis, which mediates rapid malignant transformation and punctuated evolution in about half of paediatric and adult high-grade osteosarcomas.I will also present novelalgorithms for the detection of somatic structural variants using long-read sequencing data, and their application for the reconstruction of complex rearrangementsin clinical samplesat a national scale. Finally, I will showcase the potential of nanopore sequencing for liquid biopsy analysis in the context of paediatric cancer,an approach that we have developed and validated clinically under the auspices of the Stratified Medicine Paediatrics Programme in the UK. Specifically, I will show that nanopore sequencing of small volumes of plasma cell-free DNA permits the detection ofcancer-specific mutations and epigenomic aberrationsin circulating tumour DNA for accurate diagnosis of cancer, monitoring of disease burden, and early detection of relapse in paediatric cancer patients.
Isidro Cortés-Ciriano joined EMBL-EBI as Research Group Leader in June 2019 after completing postdoctoral training at Harvard MedicalSchool, under the supervision of Prof. Peter Park. Isidrocompleted his PhD at the Pasteur Institute in 2015, after obtaining MSc degrees in biology and biochemistry (major in bioinformatics) fromthe University of Navarra
