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STEFANIA BORTOLUZZI

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Position

Professoressa Associata

Structure

Dipartimento di Medicina Molecolare - DMM

Address

VIALE G. COLOMBO, 3 - PADOVA

Telephone

0498276502

E-mail

stefania.bortoluzzi@unipd.it

Born in Venice, Italy, 03/04/1972. Married, with two sons.
Since 2002 leads the Computational genomics and bioinformatics group at the University of Padova.

EDUCATION

July 1996: Degree in Biological Sciences magna cum laude, University of Padova.
January 2000: PhD in Genetics, University of Ferrara, with the
National prize for the best PhD thesis in Genetics of the year (2000).

CAREEER

2000-2006: Post-doctoral fellow, University of Padova, Bioinformatics and transcriptomics.
2001-2003: Contract Faculty, University of Ferrara, Teaching Bioinformatics.
2006-2015: Assistant professor (BIO/13, Applied Biology), University of Padova, Department of Biology, working on Cancer transcriptomics, microRNAs and other small RNAs in cancer, systems biology for cancer modeling.
2015-: Associate professor (BIO/13), University of Padova, Department of Molecular Medicine); Leader of the Computational Genomics group (http://compgen.bio.unipd.it)
2017-: National qualification as full professor (BIO/13 Applied Biology and BIO/18 Genetics).
2019-: Member of the PhD in Biosciences directory board (University of Padova).
2021-: Deputy president of the Optics and Optometry graduation course (University of Padova).

PUBLICATIONS
Author of >100 papers in international refereed scientific journals (total IF >550, >3600 citations, H-index >31), plus international proceedings and book chapters, in collaboration with researchers of >17 countries.
Author ID: ORCID 0000-0001-8240-3070; Scopus 6601962215.

SOFTWARE

Contributed to the development of several, more than 20, new algorithms and software tools for biological and genomics data integration, analysis and interpretation. Some of them have been particularly successful and were cited and used by many researchers around the world (f.i. IDEG6, MAGIA, MAGIA2, and CircomPara2).

FUNDING

Experience since 2001 as coordinator of multi-centric projects, as PI, and as responsible of Operative Unit in large and international projects.

EDITORIAL ACTIVITY

Section Editor-in-Chief: Genes, Section Technologies and Resources for Genetics)(2021-)
Associate editor: Genes (Section Board for Technologies and Resources for Genetics)(2019-2021); Frontiers in Bioinformatics (Specialty section Genomic Analysis)(2020-); BioTech, formerly High Throughput (2017-).
Guest Editor: Genes Special Issue "RNA target prediction" (2019); Frontiers in Oncology "Genomics of Lymphoproliferative diseases" research topic (2019-2020); Frontiers in Pharmacology "Harnessing Chemotherapy Resistance and development of Novel Therapeutic strategies for Acute Leukemia with KMT2A (MLL)-gene rearrangements" research topic (2021); Frontiers in Bioinformatics "Bioinformatics methods to study circular RNAs" research topic (2021).
Currently works as Reviever for international Journals (including NEJM, Blood, Nature Communications, and Leukemia) and project evaluator for national and international funding agencies, including FWO (Flanders Research Foundation, Belgium), Netherlands Organisation for Scientific Research, National Science Center of Poland, Institut National du Cancer (France) and the Italian MIUR.

Notices

Teachings

Publications

Stefania Bortoluzzi group: 10 selected recent publications

1. Teramo A, Binatti A, Ciabatti E, Schiavoni G, Tarrini G, Barilà G, Calabretto G, Vicenzetto C, Gasparini VR, Facco M, Petrini I, Grossi R, Pisanti N, Bortoluzzi S, Falini B, Tiacci E, Galimberti S, Semenzato G, Zambello R. Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation. NAT COMMUN. 2022 Jun 8;13(1):3298.
2. Tombolan L, Rossi E, Binatti A, Zin A, Manicone M, Facchinetti A, Lucchetta S, Affinita MC, Bonvini P, Bortoluzzi S, Zamarchi R, Bisogno G. Clinical significance of Circulating Tumor Cells and Cell-free DNA in pediatric rhabdomyosarcoma. MOLECULAR ONCOLOGY May;16(10):2071-2085.
3. Dal Molin A, Gaffo A, DiFilippo V, Buratin A, Tretti C, Bresolin S, Bortoluzzi S. CRAFT: a bioinformatics software for custom prediction of circular RNA functions. BRIEFINGS IN BIOINFORMATICS 2022 Jan 31:bbab601.
4. Gaffo A, Buratin A, Dal Molin A, Bortoluzzi S. Sensitive, reliable, and robust circRNA detection from RNA-seq with CirComPara2. BRIEFINGS IN BIOINFORMATICS 2021, bbab418.
5. 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 Jun 7:blood.2020007591
6. Dal Molin A, Hofmans M, Gaffo E, Buratin A, Cavé H, Flotho C, de Haas V, Niemeyer CM, Stary J, Van Vlierberghe P, Philippé J, De Moerloose B, te Kronnie G, Bresolin S, Lammens T, Bortoluzzi S. Dysregulation of circRNAs and novel disease networks in Juvenile Myelomonocytic Leukemia. FRONT. CELL DEV. BIOL. 2021 Jan 6;8:613540.
7. Buratin A, Paganin M, Gaffo E, Dal Molin A, Roels J, Germano G, Siddi MT, Serafin V, De Decker M, Gachet S, Durinck K, Speleman F, Taghon T, Te Kronnie G, Van Vlierberghe P, Bortoluzzi S. Large-scale circular RNA deregulation in T-ALL: unlocking unique ectopic expression of molecular subtypes. BLOOD ADV. 2020 Dec 8;4(23):5902-5914.
8. Binatti A, Bresolin S, Bortoluzzi S, Coppe A. iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data. BRIEF BIOINFORM. 2020 May 20:bbaa065.
9. 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.
10. Gaffo E, Boldrin E, Dal Molin A, Bresolin S, Bonizzato A, Trentin L, Frasson C, Debatin K-M, Meyer L, te Kronnie G, Bortoluzzi S. Circular RNA differential expression in blood cell populations and exploration of circRNA deregulation in pediatric acute lymphoblastic leukemia. SCIENTIFIC REPORTS. 2019 9: 14670.

Research Area

Genetics and genomics of cancer.
Bioinformatics, multi-omics, biostatistics and artificial intelligence.
Mechanisms underlying leukemia and lymphoma development and evolution.
Non coding RNAs, including microRNAs and circular RNAs and their roles in regulatory circuits. Development of computational methods and pipelines.
RNA-based therapies.

Thesis proposals

The CompGen Bioinformatics group scientific activity in the field of Cancer Genomics and Transcriptomics, with focus to haematologic malignancies, entails big data analysis, results interpretation, and development of new methods and software tools. The bioinformatic aspects of our studies are strictly linked to specific biological and medical problems and to experimental data production. Several projects are conducted in the frame of national or international collaborations.

Ongoing projects regard:

1) Development of improved cancer prognostic models and discovery of disease mechanisms leveraging multi-omics and artificial intelligence

2) Leukemia evolution. Longitudinal cancer studies by NGS and multi-omics are being used to define the molecular alterations and the clone dynamics underlying relapses and metastasis.

3) Circular RNA roles in blood cells and haematologic malignancies: circRNA detection, quantification, differential expression and functional characterization.

4) Multi-omics characterization of chronic and aggressive lymphoproliferative disorders

5) Development of bioinformatic and statistical methods for NGS genomic and transcriptomic, as well as multi-omics data analysis.

Other projects can be designed and developed together with the students who candidate for internship.
The group is interdisciplinary and offers a stimulating and friendly environment and the possibility to participate to several international collaborations.

Interested students can contact stefania.bortoluzzi@unipd.it