COL·LABORA El Meu Clínic .Aquest enllaç s'obre en una nova pestanya.
COL·LABORA El Meu Clínic .Aquest enllaç s'obre en una nova pestanya.
Fil de navegació
Fil de navegació
Immunogenòmica i evolució de les neoplàsies limfoides

Línies de recerca

  • Cell of origin and somatic mosaicism in normal lymphocytes

    We aim to investigate the normal cellular counterparts of lymphoid neoplasms and the earliest genetic alterations that precede malignant transformation. By studying healthy B- and T-cell populations using bulk and single-cell genomic approaches, we aim to identify age-related somatic mutations, clonal expansions and developmental states associated with tumor initiation. These studies shall provide insights into the cell of origin of lymphoid malignancies and earliest evolutionary steps, creating new opportunities for early detection, risk prediction and disease prevention.

  • Immunogenomics of lymphoid neoplasms

    We investigate the immunogenetic, genomic and transcriptomic features that shape the biology and clinical behavior of lymphoid neoplasms. Our work has contributed to the identification of novel disease drivers, including the IGLV3-21^R110 subtype in chronic lymphocytic leukemia (Blood 2021) and recurrent U1 spliceosomal RNA mutations in mature B-cell neoplasms (Leukemia 2025). We have also contributed to the comprehensive molecular characterization of chronic lymphocytic leukemia (Nature Genetics 2022) and mantle cell lymphoma (Blood 2020). By integrating large-scale multi-omic datasets with clinical information, we aim to define biologically and clinically relevant disease subgroups and to translate this knowledge into improved patient stratification and precision medicine approaches.

  • Evolutionary trajectories driving lymphoid neoplasms progression and transformation

    Our research aims to reconstruct the life histories of lymphoid tumors from their earliest detectable stages to advanced disease. By combining evolutionary genomics, single-cell technologies and longitudinal patient cohorts, we study the mechanisms that drive tumor initiation, clonal diversification, disease progression, and histological transformation. This work led to the discovery that Richter transformation can be seeded years before its clinical manifestation (Nature Medicine 2022). Ongoing studies focus on reconstructing lifelong clonal trajectories of chronic lymphocytic leukemia and other lymphoid malignancies to identify the biological determinants of progression and histological transformation.

  • Genetic and non-genetic mechanisms of resistance

    We aim to understand why some patients fail to respond or eventually relapse after treatment. Our research focuses on both genetic and non-genetic resistance mechanisms, including transcriptional plasticity and tumor microenvironment interactions, that enable cancer cells to evade targeted therapies, immunotherapies and cellular therapies. Current projects focus on resistance to BTK inhibitors and CAR-T cell therapies, with the goal of identifying biomarkers and novel therapeutic vulnerabilities that can improve patient outcomes.

  • Assay and algorithm development. Innovation and knowledge transfer

    We develop molecular assays and computational tools that facilitate the translation of immunogenomic discoveries into clinical practice. This includes IgCaller, a widely adopted and internationally licensed algorithm for reconstructing immunoglobulin rearrangements and oncogenic translocations from sequencing data (Nature Communications 2020), as well as the all-CLL solution, a capture-based NGS panel enabling comprehensive molecular characterization of chronic lymphocytic leukemia (HemaSphere 2023). Our innovation program combines software development, assay design, intellectual property generation and technology transfer, contributing directly to precision diagnostics in lymphoid neoplasms.