Date of birth: November 16th, 1967.
Italian education: MS, best marks and honours, University of Ferrara, 1993.
Licensure: Italian National Board of Biology, 1995
PhD in Biochemistry, 1998
Young Investigator Award, International Congress of Thrombosis and Heamostasis, Washington DC (USA),1999
1998-2011. Assistant Professor of Molecular Biology, University of Ferrara.
2012-2016 Associate Professor of Biochemistry, University of Ferrara.
2015-2018. Coordinator of BSc and MSc programs at UniFE.
2018-2024- Director of the Department of Life Sciences and Biotechnology, Ferrara University
-PRESENT POSITION- Full-professor of Molecular Biology- University of Ferrara
-TEACHING- Courses of Molecular Biology and Biochemistry (at BSc students), UniFE. Member and vice-coodrinator of the PhD program in Biomedical Sciences and Biotechnology. Member on international PhD committees.
-RESEARCH APPOINTMENTS-
-Haemostasis and Thrombosis Research Centre, Leiden University Hospital, The Nederlands (1995). He studied the association between nucleotide sequence variations in the fibrinogen genes and the protein plasma levels as well as in the functional characterization of the promoter of coagulation protein C through creation of reporter gene constructs and expression studies in mammalian cells;
-Biotechnology Center, University of Oslo, Norway (1996). He was involved in the study of variants of the activation domain of coagulation factor VII, the serine protease triggering the coagulation cascade, by expression of the recombinant proteins in mammalian cells and purification through ion-exchange chromatography followed by immune-affinity chromatography.
- University of Pennsylvania Medical Centre and The Children’s Hospital of Philadelphia (1997- 1999). He took responsability for the study of variants of the activation and catalytic domain of coagulation factor VII by expression of the recombinant proteins in mammalian cells, purification and characterization. Moreover, he was involved in the characterization of nucleotide variations in the factor VII gene promoter and in particular in the assessment of their impact on transcriptional activity by reporter gene assays and binding assays.
-MAIN RESEARCH AREAS-
The research activity is, and has been through years, focused at the molecular mechanisms underlying the control of gene expression of proteins acting as enzymatic or cofactor components in the blood coagulation pathway, with a particular focus on the serine protease factor VII. He has characterized mechanisms acting at the transcriptional (promoter gene variations, circadian clock machinery), post-transcriptional (mRNA splicing), translational (ribosome readthrough) and post-translational (activation sites, exosites) levels. In the last years, he took advantage of i) the disease mechanisms to design and develop innovative RNA-based and DNA editing correction approaches and ii) of protein engineering to design and develop innovative chimeric coagulation factors for therapeutic purposes.
See publications for details.
-RESEARCH PROGRAMS-
2004. MIUR, progetti di ricerca di rilevante interesse nazionale (PRIN) "Modulazione di attivatori ed inibitori della coagulazione da parte di specie reattive dell’ossigeno ROS" (Coordinatore di Unità Operativa).
2006. Università di Ferrara- Finanziamento per l’acquisto “Sistema integrato per lo studio del proteoma” (Coordinatore).
2008-2010. MIUR, progetti di ricerca di rilevante interesse nazionale (PRIN) " Meccanismi post-trascrizionali e traduzionali coinvolti nella regolazione dell'espressione genica in condizioni fisiologiche e patologiche (Coordinatore Nazionale).
2008-2010. Progetto Fondazione Cassa di Risparmio di Ferrara: Studio di nuovi approcci terapeutici per le malattie congenite della coagulazione del sangue (Coordinatore)
2009-2013. Progetto Telethon Grant: RNA−based therapeutic approaches for blood coagulation factor deficiencies caused by splicing mutations (Coordinatore progetto multicentrico)
2014-2016. Bayer Hemophilia Award Program: Transcriptional enhancement as therapeutic approach of coagulation factors promoter mutations (Co-PI)
2014-2016. Novo Nordisk Access to Insight Basic Research Grant: Altered mRNA processing and FVIII biosynthesis/function as determinants of phenotype variability in the frequent Arg2016Trp Haemophilia A patients (Responsabile del Progetto)
2014-2016. Pfizer - EUROPE ASPIRE 2014 Grant: Residual factor IX expression in Hemophilia B patients with nonsense mutations: a determinant of inhibitory development?” (Responsabile del Progetto)
2014-2017. Progetto Telethon Grant: Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (Coordinatore progetto multicentrico)
2017-2019. Bayer Hemophilia Award Program: F8 splicing-switching molecules for tailored Hemophilia A therapies (Co-PI)
2018-2019. Bayer Hemophilia Award Program: Factor IX variants with superior pharmacokinetics as next-generation therapeutics for Haemophilia B (Co-PI)
2018-2019 AFM-Telethon: RNA-based therapeutics for OTC deficiency (Co-PI)
2019-2023 European project NUMBER 825730: H2020-SC1-BHC-2018-2020/H2020-SC1-2018-Single-Stage-RTD Title: ENDOSCAPE-a clinically applicable non-viral gene delivery technology’
2020-22 Bayer Hemophilia Award Program: “Base editing of DNA as a new therapeutic option for hemophilia A”
2024-25 “Targeting frequent F8 mutations with base/prime editors or suppressor tRNAs as innovative therapy for severe Hemophilia A – TARGEIGHT”
Programma “National Center for Gene Therapy and Drugs based on RNA Technology” - Piano Nazionale di Ripresa e Resilienza (PNRR), Missione 4 “Istruzione e ricerca” – Componente 2 “Dalla ricerca all’impresa” - Investimento 1.4 , finanziato dall’Unione Europea – NextGenerationEU (Avviso MUR D.D. n. 3138 del 16 dicembre 2021, modificato con D.D. n. 3175 del 18 dicembre 2021, Decreto di concessione del finanziamento prot. n. 1035 del 17/06/2022) - (codice identificativo CN00000041 - CUP UNIMORE E93C22001080001) - Bando a Cascata “Bando pubblico per la selezione di proposte progettuali da finanziare nell'ambito delle attività di ricerca dello Spoke 1 "Genetic Diseases" – Università degli studi di Modena e Reggio Emilia –
-MAIN INTERNATIONAL COLLABORATION WITH-
-Prof. Camire, UPEN and Children’s Hospital of Philadelphia (USA):
-Prof. Jan Andresen, Oslo University, Norway
-Prof. Nicoletta Landsberger, UniMI and San Raffaele, Milan, Italy
-Prof. Lindsey George, UPEN and Children’s Hospital of Philadelphia
-Prof. Jan Andersen (Oslo University)
-prof. David Liu, Massachusetts Institute of technology, Harvard, Boston:
-prof.ssa Antonia Follenzi, Università del Piemonte Orientale:
-prof.ssa Francesca Fallarino, Università di Perugia:
-Prof.Castaman (Ospedale Careggi/UniFI) and Prof.ssa Peyvandi (Università di Milano):
-Prof.Landsberger (UniMI, San Raffaele):
-Prof. Pinton, Università di Ferrara:
SCIENTIFIC ACTIVITY- >120 papers in international peer reviewed journals with mean IF 6.3, h-index, 33.
Reviewer for scientific international Journals: Molecular and Cellular Biology (MCB), Molecular and Cellular Biochemistry, Blood, Journal of Thrombosis and Haemostasis, Thrombosis and Haemostasis, Atherosclerosis, Thrombosis and Vascular Biology (ATVB), Haematologica. Member of the Editorial Board of the Journal “Thrombosis Research”.
TECHNOLOGY TRANSFER- Inventor of a patent of modified small RNAs for therapeutic purposes and entitled “Molecule of human U1snRNA, gene encoding a molecule of modified human U1snRNA, expression vector including the gene, and use in gene therapy”. Founder of Raresplice.srl, a start-up company at UniFE that received financial support by MIUR for industrial research activities. He is also inventor of the patent application on novel FX variants as by-passing agent for the treatment of Hemophilia.
Italian education: MS, best marks and honours, University of Ferrara, 1993.
Licensure: Italian National Board of Biology, 1995
PhD in Biochemistry, 1998
Young Investigator Award, International Congress of Thrombosis and Heamostasis, Washington DC (USA),1999
1998-2011. Assistant Professor of Molecular Biology, University of Ferrara.
2012-2016 Associate Professor of Biochemistry, University of Ferrara.
2015-2018. Coordinator of BSc and MSc programs at UniFE.
2018-2024- Director of the Department of Life Sciences and Biotechnology, Ferrara University
-PRESENT POSITION- Full-professor of Molecular Biology- University of Ferrara
-TEACHING- Courses of Molecular Biology and Biochemistry (at BSc students), UniFE. Member and vice-coodrinator of the PhD program in Biomedical Sciences and Biotechnology. Member on international PhD committees.
-RESEARCH APPOINTMENTS-
-Haemostasis and Thrombosis Research Centre, Leiden University Hospital, The Nederlands (1995). He studied the association between nucleotide sequence variations in the fibrinogen genes and the protein plasma levels as well as in the functional characterization of the promoter of coagulation protein C through creation of reporter gene constructs and expression studies in mammalian cells;
-Biotechnology Center, University of Oslo, Norway (1996). He was involved in the study of variants of the activation domain of coagulation factor VII, the serine protease triggering the coagulation cascade, by expression of the recombinant proteins in mammalian cells and purification through ion-exchange chromatography followed by immune-affinity chromatography.
- University of Pennsylvania Medical Centre and The Children’s Hospital of Philadelphia (1997- 1999). He took responsability for the study of variants of the activation and catalytic domain of coagulation factor VII by expression of the recombinant proteins in mammalian cells, purification and characterization. Moreover, he was involved in the characterization of nucleotide variations in the factor VII gene promoter and in particular in the assessment of their impact on transcriptional activity by reporter gene assays and binding assays.
-MAIN RESEARCH AREAS-
The research activity is, and has been through years, focused at the molecular mechanisms underlying the control of gene expression of proteins acting as enzymatic or cofactor components in the blood coagulation pathway, with a particular focus on the serine protease factor VII. He has characterized mechanisms acting at the transcriptional (promoter gene variations, circadian clock machinery), post-transcriptional (mRNA splicing), translational (ribosome readthrough) and post-translational (activation sites, exosites) levels. In the last years, he took advantage of i) the disease mechanisms to design and develop innovative RNA-based and DNA editing correction approaches and ii) of protein engineering to design and develop innovative chimeric coagulation factors for therapeutic purposes.
See publications for details.
-RESEARCH PROGRAMS-
2004. MIUR, progetti di ricerca di rilevante interesse nazionale (PRIN) "Modulazione di attivatori ed inibitori della coagulazione da parte di specie reattive dell’ossigeno ROS" (Coordinatore di Unità Operativa).
2006. Università di Ferrara- Finanziamento per l’acquisto “Sistema integrato per lo studio del proteoma” (Coordinatore).
2008-2010. MIUR, progetti di ricerca di rilevante interesse nazionale (PRIN) " Meccanismi post-trascrizionali e traduzionali coinvolti nella regolazione dell'espressione genica in condizioni fisiologiche e patologiche (Coordinatore Nazionale).
2008-2010. Progetto Fondazione Cassa di Risparmio di Ferrara: Studio di nuovi approcci terapeutici per le malattie congenite della coagulazione del sangue (Coordinatore)
2009-2013. Progetto Telethon Grant: RNA−based therapeutic approaches for blood coagulation factor deficiencies caused by splicing mutations (Coordinatore progetto multicentrico)
2014-2016. Bayer Hemophilia Award Program: Transcriptional enhancement as therapeutic approach of coagulation factors promoter mutations (Co-PI)
2014-2016. Novo Nordisk Access to Insight Basic Research Grant: Altered mRNA processing and FVIII biosynthesis/function as determinants of phenotype variability in the frequent Arg2016Trp Haemophilia A patients (Responsabile del Progetto)
2014-2016. Pfizer - EUROPE ASPIRE 2014 Grant: Residual factor IX expression in Hemophilia B patients with nonsense mutations: a determinant of inhibitory development?” (Responsabile del Progetto)
2014-2017. Progetto Telethon Grant: Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (Coordinatore progetto multicentrico)
2017-2019. Bayer Hemophilia Award Program: F8 splicing-switching molecules for tailored Hemophilia A therapies (Co-PI)
2018-2019. Bayer Hemophilia Award Program: Factor IX variants with superior pharmacokinetics as next-generation therapeutics for Haemophilia B (Co-PI)
2018-2019 AFM-Telethon: RNA-based therapeutics for OTC deficiency (Co-PI)
2019-2023 European project NUMBER 825730: H2020-SC1-BHC-2018-2020/H2020-SC1-2018-Single-Stage-RTD Title: ENDOSCAPE-a clinically applicable non-viral gene delivery technology’
2020-22 Bayer Hemophilia Award Program: “Base editing of DNA as a new therapeutic option for hemophilia A”
2024-25 “Targeting frequent F8 mutations with base/prime editors or suppressor tRNAs as innovative therapy for severe Hemophilia A – TARGEIGHT”
Programma “National Center for Gene Therapy and Drugs based on RNA Technology” - Piano Nazionale di Ripresa e Resilienza (PNRR), Missione 4 “Istruzione e ricerca” – Componente 2 “Dalla ricerca all’impresa” - Investimento 1.4 , finanziato dall’Unione Europea – NextGenerationEU (Avviso MUR D.D. n. 3138 del 16 dicembre 2021, modificato con D.D. n. 3175 del 18 dicembre 2021, Decreto di concessione del finanziamento prot. n. 1035 del 17/06/2022) - (codice identificativo CN00000041 - CUP UNIMORE E93C22001080001) - Bando a Cascata “Bando pubblico per la selezione di proposte progettuali da finanziare nell'ambito delle attività di ricerca dello Spoke 1 "Genetic Diseases" – Università degli studi di Modena e Reggio Emilia –
-MAIN INTERNATIONAL COLLABORATION WITH-
-Prof. Camire, UPEN and Children’s Hospital of Philadelphia (USA):
-Prof. Jan Andresen, Oslo University, Norway
-Prof. Nicoletta Landsberger, UniMI and San Raffaele, Milan, Italy
-Prof. Lindsey George, UPEN and Children’s Hospital of Philadelphia
-Prof. Jan Andersen (Oslo University)
-prof. David Liu, Massachusetts Institute of technology, Harvard, Boston:
-prof.ssa Antonia Follenzi, Università del Piemonte Orientale:
-prof.ssa Francesca Fallarino, Università di Perugia:
-Prof.Castaman (Ospedale Careggi/UniFI) and Prof.ssa Peyvandi (Università di Milano):
-Prof.Landsberger (UniMI, San Raffaele):
-Prof. Pinton, Università di Ferrara:
SCIENTIFIC ACTIVITY- >120 papers in international peer reviewed journals with mean IF 6.3, h-index, 33.
Reviewer for scientific international Journals: Molecular and Cellular Biology (MCB), Molecular and Cellular Biochemistry, Blood, Journal of Thrombosis and Haemostasis, Thrombosis and Haemostasis, Atherosclerosis, Thrombosis and Vascular Biology (ATVB), Haematologica. Member of the Editorial Board of the Journal “Thrombosis Research”.
TECHNOLOGY TRANSFER- Inventor of a patent of modified small RNAs for therapeutic purposes and entitled “Molecule of human U1snRNA, gene encoding a molecule of modified human U1snRNA, expression vector including the gene, and use in gene therapy”. Founder of Raresplice.srl, a start-up company at UniFE that received financial support by MIUR for industrial research activities. He is also inventor of the patent application on novel FX variants as by-passing agent for the treatment of Hemophilia.
