Department and institution: School of Medicine and Surgery, Department of Health Sciences, University of Milano Bicocca
Keywords: Leukemia, High-throughput sequencing, Somatic mutations, Gene fusions, Oncogenesis
My research projects are focused on the analysis of cancer genomes for the identification and characterization of new oncogenic somatic lesions, by using high-throughput sequencing technologies (HTS). Specifically, in the last three years I worked on the identification of the somatic mutations involved in the onset of atypical chronic myeloid leukemia (aCML) by using whole-exome and whole-transcriptome sequencing techniques. In order to optimize the bioinformatic processing of HTS data, I developed new software able to identify the presence of oncogenic fusion lesions (Piazza R. et al., Nucleic Acids Res. 2012 Sep;40(16):e123), of somatic, single-nucleotide variants, of small indels and of copy number abnormalities (Piazza R. et al., PLoS One. 2013 Oct 4;8(10):e74825. doi: 10.1371/journal.pone.0074825).
This software has been/is in use in HTS centers in Canada, Italy, Germany, Norway, Poland, India and Japan. These tools allowed us to identify the presence of recurrent, somatic, single-nucleotide mutations occurring on SETBP1 gene in aCML (Piazza R. et al., Nature Genetics: 2013 Jan;45(1):18-24). The biological role of this gene in the pathogenesis of aCML is now under study.
Date and place of birth: 26th July 1974, Reggio Calabria (Italy).
Address: Via Carducci 8, – 20035 Lissone (MB) - Italy
Phone +39 340 6132493.
- In 1998: M.D., University of Pavia (110/110 cum laude).
- In 1999: admission at the Italian Ph.D. School for Advanced Studies (SAFI).
- In 2002: PhD (Biochemistry) at the Department of Biochemistry, University of Pavia.
- In 2006: Post graduate education in Haematology at the S. Gerardo Hospital of Monza.
- Starting from 2009, researcher (MED/15 - Haematology) at the University of Milano-Bicocca
- Known languages: Italian, English, and French (scholastic level).
- 1999 – 2002: PhD in Biochemistry, Department of Biochemistry, University of Pavia.
- 2002 – 2003: PostDoc in Molecular Biology, Division of Experimental Oncology, Oncogenic Fusion Proteins Unit, Istituto Nazionale Tumori, Milano – Italy.
- 2003 – 2006 Clinical Haematology Fellow, Department of Haematology, San Gerardo Hospital, Monza – Italy.
- 2006 – 2008 PostDoc - Oncohaematology, Department of Clinical Medicine, University of Milano-Bicocca, Milano – Italy.
- 2008 – 2014 Researcher in Haematology, Department of Clinical Medicine, University of Milano-Bicocca, Milano – Italy.
Present research area:
- High-throughput sequencing of cancer genomes.
- Molecular mechanisms of drug resistance.
- Genetic and epigenetic regulation of gene expression in normal and neoplastic cells.
- Functional inhibition of oncogenic fusion proteins with tyrosine kinase activity using tyrosine-kinase inhibitors.
Awards and honors:
- 1992, Italian Chemistry Games: first place at regional level, third place at national level.
- 1993: School of Medicine (University of Pavia): ranked first at the admission test (9.75/10).
- 1998: M.D.: 110/110 cum laude.
- 1999: SAFI prize with the thesis: “Immunology and mathematics”.
- 2000: SAFI prize with the thesis: “Virtual ants and swarm intelligence”.
- 2001: SAFI prize with the thesis: “Neural networks and DNA microchips”.
- 2002: PhD in Biochemistry, Department of Biochemistry, University of Pavia.
- 2005: Post graduate education in Haematology: 70/70 cum laude.
- 2008: American Association for Cancer Research - Pezcoller Foundation Scholar-in-Training Award for the AACR Annual Meeting 2008 with the abstract: ‘Reversal of glucocorticoid resistance in human lymphoid malignancies with histone deacetylase inhibitors’.