My group investigates the mechanisms underlying the oncogenesis of rare paediatric cancers, using genome-editing approaches and longitudinal and intergrative multi-omics studies. Starting from primary cells, we model the transformation process by introducing disease-associated fusion oncogenes using CRISPR-based genome engineering, allowing us to dissect step by step the key molecular and cellular drivers of malignant transformation.

At a fundamental level, we aim to understand how genome instability, including complex rearrangements such as chromoplexy, contributes to oncogenesis through integrated genomic, transcriptomic and epigenomic analyses. This work also provides a powerful framework for studying the functional consequences of patient-derived somatic mutations, particularly in genes that are also implicated in rare genetic diseases. Ultimately, this approach bridges cancer biology and human genetics, enabling us not only to identify and functionally characterise disease-relevant genes and pathways. These efforts include the development of targeted therapeutic approaches directed against newly identified molecular and cellular vulnerabilities. I n parallel, innovative cellular therapies, such as chimeric antigen receptor T-cell (CAR-T) therapies, are being investigated to harness and redirect the patient's own immune system against pathological cells.