Presentation
Organizer: IRB BioMed Seminars
Date / Time: Friday, February 20th at 12:00
Place: Auditorium Room
Speaker: Isidro Cortes-Ciriano, PhD, Research Group Leader, EMBL-EBI - Associate Faculty, Sanger Institute - CRUK Fellow
Host: Núria López-Bigas, Ph.D. - Group Leader, IRB Barcelona - Biomedical Genomics Lab, Cancer Science Programme.
Host: Marco Milán, Ph.D. - Programme Chair - Group Leader, IRB Barcelona - Mechanisms of Disease Programme.
Isidro Cortés-Ciriano leads the Cancer Genomics group at the EMBL-EBI and is Associate Faculty at the Sanger Institute. His laboratory focuses on the development of computational methods for early cancer detection and to study the mechanisms underpinning cancer evolution using whole-genome sequencing. Recent work by his group includes the discovery of novel mechanisms of cancer development, such as Loss-Translocation-Amplification chromothripsis in osteosarcoma, and the development of novel methods for the analysis of single cell and long-read sequencing data, such as SComatic and SAVANA. His laboratory is leading the application of long-read sequencing technologies for tumour profiling and liquid biopsy analysis through various international studies initiatives, such as the CRUK- funded Stratified Medicine Paediatrics (SMPEDS) programme and the Cancer Grand Challenges team SAMBAI. Before joining EMBL-EBI, Isidro trained as a postdoctoral fellow at Harvard Medical School, and received his PhD from the Pasteur Institute.
Group website: https://www.ebi.ac.uk/research/cortes-ciriano/
Abstract
My laboratory focuses on the development of experimental and computational methods to study the mechanisms underpinning cancer genome complexity and evolution, and to harness novel technologies to improve early cancer detection and treatment selection. In this talk, I will first discuss our work on the characterization of the mechanisms underpinning the evolutionary trajectories of the diverse spectrum of complex genomic rearrangements observed across diverse cancer types, such as chromothripsis. Specifically, I will present the discovery of a novel rearrangement mechanism, loss-translocation-amplification (LTA) chromothripsis, which mediates rapid malignant transformation and punctuated evolution in both paediatric and adult high-grade osteosarcoma. In addition, I will present a novel methodology for the analysis and mechanistic interpretation of complex genomic rearrangements, and its application to >10,000 cancer whole genomes. Finally, I will present a novel single-molecule technology for liquid biopsy analysis that permits sequencing of small volumes of plasma cell-free DNA to perform both high-depth targeted sequencing as well as genome-wide multi-modal detection of genomic and epigenomic aberrations for accurate diagnosis of cancer, monitoring of disease burden, and early detection of relapse in paediatric cancer patients.
Affiliations
Group Leader, European Bioinformatics Institute - European Molecular Biology Laboratory (EMBL-EBI), Associate Faculty, Sanger Institute.
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