Bioinformatics, genomics and transcriptomics applied to oncology. Multi-omics. Artificial Intelligence. Development of prognostic models. Bioinformatics software development. Biostatistical analysis of high-throughput data. RNA biology, microRNAs, circular RNAs. RNA therapy. Identification of oncogenic variants and and interpretation of their impact in malignant cells. Circulating markers, exosomal RNA anf protein cargo role in cancer progression and dissemination.

Research activities

Omics and AI-based studies in leukemias and lymphomas, to discover new molecular players, new stratification and prognostic factors and to charachterize aggressive subtypes. Definition of circular RNA role in haematologic malignacies and solid cancer. Study of RNA-RNA and RNA-protein interactions in disease mechanisms. Development of new software tools and computational pipelines leveraging parallel computing. High performance computing and big data analysis. Multiomics data integration. Third generation sequencing (long-read NGS) data analysis. Development of efficient bioinformatics computational pipelines for high-throughput sequencing data processing.

Ongoing Studies

Studies about circular RNA roles in cancer. Identification of circRNA-RNA interactions through RNA-seq. Characterization Chronic lymphocytic leukemia aggressive subtypes by means of scRNA-seq. Single cell studies to clarify the bone marrow role in Large Granular Lymphocyte leukemia (T-LGLL) pathogenesis. Development of improved prognostic models for leukemias and solid cancer by integration of multiomic data. Development of an RNA-based therapy for T-LGLL.

5 Publications

• Tretti Parenzan C, Molin AD, Longo G, Gaffo E, Buratin A, Cani A, Boldrin E, Serafin V, Guglielmelli P, Vannucchi AM, Cazzaniga G, Biondi A, Locatelli F, Meyer LH, Buldini B, Te Kronnie G, Bresolin S, Bortoluzzi S. Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion. Blood Adv. 2024 Mar 12;8(5):1305-1319. doi: 10.1182/bloodadvances.2023011291.
• Vromman M, Anckaert J, Bortoluzzi S, Buratin A, Chen CY, Chu Q, Chuang TJ, Dehghannasiri R, Dieterich C, Dong X, Flicek P, Gaffo E, Gu W, He C, Hoffmann S, Izuogu O, Jackson MS, Jakobi T, Lai EC, Nuytens J, Salzman J, Santibanez-Koref M, Stadler P, Thas O, Vanden Eynde E, Verniers K, Wen G, Westholm J, Yang L, Ye CY, Yigit N, Yuan GH, Zhang J, Zhao F, Vandesompele J, Volders PJ. Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision. Nat Methods. 2023 Aug;20(8):1159-1169. doi: 10.1038/s41592-023-01944-6.
• Buratin A, Borin C, Tretti Parenzan C, Dal Molin A, Orsi S, Binatti A, Simon K, Paganin M, Serafin V, Gaffo E, Te Kronnie G, Van Vlierberghe P, Bresolin S, Bortoluzzi S. CircFBXW7 in patients with T-cell ALL: depletion sustains MYC and NOTCH activation and leukemia cell viability. Exp Hematol Oncol. 2023 Jan 21;12(1):12. doi: 10.1186/s40164-023-00374-6. PMID: 36681829 Free PMC article.
• Boldrin E, Gaffo E, Niedermayer A, Boer JM, Zimmermann M, Weichenhan D, Claus R, Münch V, Sun Q, Enzenmüller S, Seyfried F, Demir S, Zinngrebe J, Cario G, Schrappe M, Den Boer ML, Plass C, Debatin KM, Te Kronnie G, Bortoluzzi S, Meyer LH. MicroRNA-497/195 is tumor suppressive and cooperates with CDKN2A/B in pediatric acute lymphoblastic leukemia. Blood. 2021 Nov 18;138(20):1953-1965. doi: 10.1182/blood.2020007591. PMID: 34098582 Free article.
• Gasparini VR, Binatti A, Coppe A, Teramo A, Vicenzetto C, Calabretto G, Barilà G, Barizza A, Giussani E, Facco M, Mustjoki S, Semenzato G, Zambello R, Bortoluzzi S. A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells. Blood Cancer J. 2020 Apr 22;10(4):42. doi: 10.1038/s41408-020-0309-2.

Funding 

AIRC IG, PRIN, CARIPARO Excellence, Cariparo Pediatric Research, PNRR EU CN3 National Center for Gene Therapy and Drugs based on RNA Technology, Spoke 6 RNA drugs
(Project no. CN00000041 CN3 Spoke 6 RNA chemistry and PNRR EU PNRR EU CN1 "HPC, Big Data and Quantum Computing" Spoke 8 In Silico Medicine & Omics Data, Fondazione veronesi, Ministry of Foreign Affairs and International Cooperation MAECI program


People involved (PI)

Stefania Bortoluzzi, Full Professor
Enrico Gaffo, Assistant Professsor


Group Members

Giovanni Madeo, Silvia Orsi, Ilias Glogovitis, Eleonora Roncaglia, Roberto Merlo, Alberto Caregari, Giulia Meneghesso, Gioia Spiandorello