My research activity focuses on human cancer genomics and application of high-throughput technologies, such as next-generation sequencing (NGS) and microarray platforms, to perform "-omics" analyses for translational medicine purposes. Working in close cooperation with hospital and university research groups, I used such technologies to perform genomic, transcriptomic and epigenetic analyses in several human cancer pathologies, among which renal cell carcinoma, cutaneous malignant melanoma, acute myeloid leukemia, acute lymphoblastic leukemia, myeloproliferative neoplasms and multiple myeloma. I used high-density microarray platforms to identify chromosomal aberrations, to analyse gene expression profiles and to study promoter methylation. Then, I applied NGS technologies for whole-exome sequencing (WES) or gene target sequencing to identify mutations and/or structural genomic rearrangements, for transcriptomic profiling and identification of particular transcripts, such as fusion transcripts, conjoined genes and circular RNAs (RNA-seq), for miRNA expression profiling in extracellular vesicles released by cancer cells (small RNA-seq), for single-cell transcriptomics analysis of tumor samples (single-cell RNA-seq). Moreover, I applied integrated approaches to combine different kind of omics data, e.g. genomic profile and gene expression data, aiming to obtain a more complete view of molecular mechanisms underlying tumorigenesis and to identify candidate crucial genes for tumor biology. The final goal of my studies is to contribute to improve the knowledge of the molecular mechanisms involved in malignant transformation and progression and to help the identification of novel candidate markers useful for early tumor diagnosis or prognostic prediction, or as molecular targets for new therapeutic strategies. A particular interest is addressed to "liquid biopsy" approaches for a non-invasive and early tumor diagnosis and post-therapy patient's monitoring. These are the basis to realize a "personalized medicine" that maximizes therapy efficacy and minimizes toxic side effects, thus improving life expectation and quality of cancer patients. I have been involved in many research projects funded by Italian MIUR, Cariplo and AIRC Foundations. My scientific activity is documented by 35 papers on peer-reviewed international journals (Scopus h 19).
Aree di interesse
Application of high-throughput technologies for molecular characterization of human cancer pathologies, among which renal cell carcinoma (RCC), cutaneous malignant melanoma, acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), myeloproliferative neoplasms (MPN), multiple myeloma (MM). Application of high-density microarray platforms for human DNA copy number profiling, gene and miRNA expression analysis, and promoter methylation analysis. Application of next-generation sequencing (NGS) for whole-exome or target sequencing and identification of single nucleotide variants (SNV) and copy number variants (CNV), for gene expression profiling and identification of fusion transcripts, conjoined genes and circular RNAs (RNA-seq), for miRNA expression profiling in extracellular vesicles released by cancer cells (small RNA-seq), for single-cell transcriptomics analysis of tumor samples (single-cell RNA-seq).
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