Curriculum

1. PRESENT POSITION

Associate Professor of Molecular Biology, Department of Life Sciences and Biotechnology, University of Ferrara

 

2. QUALIFICATIONS AND EDUCATION

  • December 2013 - Licensure: Italian National Board of Biology
  • March 2011 - PhD in Biochemistry, Molecular Biology and Biotechnology
  • December 2006 - Master’s Degree in Biomolecular and Cellular Sciences
  • June 2004 - Bachelor’s Degree in Molecular and Cellular Biology

 

3. WORK EXPERIENCE

  • 2011-present: contact person and staff member for the section of “Functional studies on blood coagulation” of the Laboratory for Advanced Tecnologies and Therapies (LTTA) Tecnopole Center of Ferrara.
  • 2011-2019: Post-Doctoral Research Fellow; Department of Life Sciences and Biotechnology, University of Ferrara.
  • June 2012: Visiting Scientist at the Department of Biological Hematology, CHU of Montpellier, Montpellier, France.
  • 2008-2011: PhD Scholarship funded by “Fondazione della Cassa di Risparmio di Ferrara” for the research project entitled “Molecular mechanisms underlying the modulation of coagulation factor levels”. Department of Biochemistry and Molecular Biology, University of Ferrara.
  • 2004-2006: Graduate Apprenticeship, Department of Biochemistry and Molecular Biology, University of Ferrara.

 

4. HONOURS AND AWARDS

  • Otranto Award 2020

IX Congress on the prevention in hemostasis and thrombosis

October 16-17th 2020, Otranto (Italy)

  • AICE 2020 Young Ideas for Research Award

XVII Congress on clinical and social issues of haemeophilia – Italian Association of Haemophilia Centres (AICE)

October 8-11th 2020, Milan (Italy)

  • Therapeutic Innovations Award

XVII Congress on clinical and social issues of haemeophilia - Italian Association of Haemophilia Centres (AICE)

October 8-11th 2020, Milan (Italy)

  • Plenary Oral Communication within the session for the best oral communications

XXV National Congress of the Italian Society on the Study of Haemostasis and Thrombosis (SISET)

Novembre 7-10th 2018, Firenze (Italia)

  • ISTH SSC 2018 Top rated poster

64th Annual Meeting of the Scientific Standardization Committee (SSC) of the International Society on Thrombosis and Haemostasis (ISTH)

July 18-21st 2018, Dublin (Ireland)

  • Grifols Martin Villar Haemostasis Award - Clinical Research Award

World Federation of Hemophilia (WFH) Congress 2018

May 21-24th 2018, Glasgow (Scotland)

  • Early Career Investigator Award (Bayer Hemophilia Awards Program)

World Federation of Hemophilia (WFH) Congress 2018

May 21-24th 2018, Glasgow (Scotland)

  • AICE 2017 Young Ideas for Research Award

XVI Congress on clinical and social issues of haemophilia – Italian Association of Haemophilia Centres (AICE)

November 9-12th 2017, Naples (Italy)

  • AICE “Prof. Raffaello de Biasi” Award for the best Abstracts

XVI Congress on clinical and social issues of haemophilia – Italian Association of Haemophilia Centres (AICE)

November 9-12th 2017, Naples (Italy)

  • Plenary Oral Communication within the session for the best oral communications

XXIV National Congress of the Italian Society for Thrombosis and Hemostasis (SISET)

November 9-12th 2016, Abano Terme (Italy)

  • EHA Travel Grant (supported by Giuseppe Bigi Association)

21st Congress of the European Hematology Association (EHA)

June 9-12th 2016, Copenhagen (Denmark)

  • Young Investigator Award

XXV Congress of the International Society on Thrombosis and Haemostasis (ISTH)

June 20-25th, 2015, Toronto (Canada)

  • EU Haemophilia ASPIRE Research Award 2015

8th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD)

February 11-13th 2015, Helsinki (Finland)

  • SIB Award

57th National Meeting of the Italian society of Biochemistry and Molecular Biology

September 18-20th 2013, Ferrara (Italy)

  • Young Investigator Award

XXIV Congress of the International Society on Thrombosis and Haemostasis (ISTH)

July 1-4th 2013, Amsterdam (The Netherlands)

  • Young Investigator Award

XXIII Congress of the International Society on Thrombosis and Haemostasis (ISTH)

July 23-28th 2011, Kyoto (Japan)

  • SISET Award for best abstracts

XXI National Congress of the Italian Society on the Study of Haemostasis and Thrombosis (SISET)

October 28-31st 2010, Bologna (Italy)

 

5. SCIENTIFIC ACTIVITY

The research activity has been mainly focused on the identification and characterization of genetic defects responsible for, or models of, blood coagulation disorders such as factor VII, factor X deficiency and deficiencies of factor VIII (Haemophilia A) and factor IX (Haemophilia B). The knowledge of the mechanisms underlying these disorders has laid the foundation for the design of engineered variants and/or correction strategies that might lead to the development of novel therapeutic approaches for genetic diseases. Further details ont eh research activities are reported below.

-Characterization of mutations affecting blood coagulation factors

The research activity is focused on the molecular characterization of mutations affecting coagulation factors VII, IX and X by functional studies in plasma, detection of the mutation at the genome level and production in-vitro by site-directed mutagenesis of the recombinant plasmids coding for the altered protein. Expression studies on secretion and intracellular levels, and functional studies (both in reconstituted and plasma systems even with purified stably-expressed proteins) are carried out to investigate the effect exerted by the mutation on protein biology.

-Role of the carboxyl-terminal region of blood coagulation factors

Coagulation factor (F) VII, IX, X and protein C share high degree of homology with the exception of the carboxyl-terminal region in terms of extension and amino acid sequence. The research activity has been focused on the evaluation of the role of this region in FVII, FX and FIX by the in-vitro expression, and evaluation of secretion and functional levels, of artificial recombinant variants as well as naturally-occurring variants found in patients with bleeding disorders such as FVII-, FX- and FIX-deficiency (Haemophilia B). These studies are aimed at elucidating the alteration due to small alterations such as missense and nonsense mutations, as well as domain swapping approaches, in order to investigate the differential impact of the carboxyl-terminal region in these homologous factors.

-Nonsense mutations and ribosome readthrough

Nonsense mutations, caused by premature nonsense codons (PTCs), may determine the premature terminate of protein translation, thus leading to the synthesis of truncated proteins different from that produced by normal translation. However, in some the ribosome can by-pass (and mis-recognize) the stop codon (“readthorugh”) by introducing an amino acid different from the natural one, thus leading to the production of a full-length protein with an efficiency related to i) position and sequence context of the stop codon and ii) type of amino acid inserted at the nonsense position. The spontaneous readthrough process occurs with a very low frequency but it may be induced by molecules or drugs such as aminoglycosides. The research activity is focused on the creation of cellular models of coagulation FVII deficiency and Haemophilia B, caused by nonsense mutations, and investigation of spontaneous and induced readthrough process in relation to sequence and position of the stop codon. In particular, great attention has been paid to nonsense mutations caused by the CGA>TGA change, which is highly associated to CpG dinucleotides, because they represent one of the most frequent alterations responsible for nonsense mutations in human disease forms. Our studies are aimed at evaluating i) the efficiency of readthrough of full-length coagulation factors, ii) correction approaches mediated by aminoglycosides o molecules/drugs with similar activity, and iii) the residual coagulant activity of the full-length proteins arising from readthrough. We identified a few nonsense mutations whose treatment with readthrough-inducing drugs is associated with a significant increase in secretion and functional levels, thus laying the foundation for the selection of a panel of patients eligible for treatment with this therapeutic approach.

-Cellular models for the development of novel therapeutic approaches

Severe bleeding disorders such as FVII deficiency and Haemophilia B are mainly caused by missense mutations that may affect protein folding, thus leading to the production of structurally-altered proteins associated with low or very low circulating levels. The research activity is aimed at characterizing the mechanism underlying the defective intracellular biosynthesis (misfolding), premature degradation and/or stress of the endoplasmic reticulum. The knowledge of these processed lay the foundation for the exploitation, in cellular models, of small molecules or drugs acting as chemical/pharmacological chaperones, able to correct the molecular defect, as demonstrated for disorders such as cystic fibrosis and muscular dystrophy. The aim is to ameliorate/increase the production of coagulation factors with defective folding/processing from levels below 1% up to 3-5%, which represent a significant improvement that may also ameliorate the clinical phenotype of patients affected by missense mutations.

-Antigen-antibody interactions and epitope mapping

Replacement therapy with injection of the missing/defective coagulation factor is the gold-standard treatment for bleeding disorders. One of the most detrimental side-effects of this therapy is the development of inhibitory antibodies directed towards the infused protein. This complication, with a complex origin associated to both genetic and environmental factors, occurs mainly for Hamemophilia A (25-30% of patients), Haemophilia B (3-5%), but has low frequency (1-3%) in coagulation FVII deficiency. The research activity has been focused on the characterization of inhibitory antibodies developed in a patient with severe FVII deficiency caused by a peculiar molecular defect associated with very low levels of a circulating FVII molecule with an altered carboxyl-terminal region. The potential presence of epitopes within the normally-structured carboxyl-terminus of the infused factor(s) has represented the starting hypothesis. We identified the region of interaction between the antigen and the inhibitory antibodies (found in patient plasma) by binding and competition assays, fluorescent bead-based binding assays and functional studies, and by taking advantage of recombinant proteins with progressive deletions in the carboxyl-terminal region. Our approach allowed us to design and identify coagulation FVII variants, resistant to the inhibitory antibodies, that may represent an innovative individually-oriented and personalized therapeutic approach.

-Protein engineering for therapeutic purposes

A research field with great relevance for treatment of bleeding disorders (i.e. haemophilias) is represented by the improvement of the biological properties of therapeutic molecules through protein engineering approaches. The research activity, which is focused on the rational engineering of coagulation factors to improve their biological properties, led us to produce new molecules with a high impact for replacement therapy in terms of improved functional and plasma half-life.

 

5.1. SCIENTIFIC AND RESEARCH ACTIVITIES

PUBLICATIONS

  • Sacco M, Testa MF, Ferretti A, Basso M, Lancellotti S, Tardugno M, Di Gennaro L, Concolino P, Minucci A, Spoliti C, Branchini A, De Cristofaro R. An integrated multi-tool analysis contributes elements to interpreting unclassified factor IX missense variants associated with haemophilia B. J Thromb Haemost.. 2024 Jul 15:S1538-7836(24)00425-2. doi: 10.1016/j.jtha.2024.07.008. Epub ahead of print.
  • Pedriali G, Ramaccini D, Bouhamida E, Branchini A, Turrin G, Tonet E, Scala A, Patergnani S, Pinotti M, Trapella C, Giorgi C, Tremoli E, Campo G, Morciano G, Pinton P. 1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related Side Effects. Int J Mol Sci. 2023 Mar 24;24(7):6191.
  • Lunghi B, Morfini M, Martinelli N, Branchini A, Linari S, Castaman G, Bernardi F. Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors. Haemophilia. 2023 Mar;29(2):479-487.
  • Testa MF, Lombardi S, Bernardi F, Ferrarese M, Belvini D, Radossi P, Castaman G, Pinotti M, Branchini A. Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association. Haematologica. 2023 Feb 1;108(2):472-482.
  • Lombardi S, Testa MF, Pinotti M, Branchini A. Translation termination codons in protein synthesis and disease. Adv Protein Chem Struct Biol. 2022 Sep;132:1-48.
  • Sacco M, Lancellotti S, Branchini A, Tardugno M, Testa MF, Lunghi B, Bernardi F, Pinotti M, Giusti B, Castaman G, De Cristofaro R. The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: clinical phenotype and pathogenic mechanisms. J Thromb Haemost. 2022 Aug;20(8):1818-1829..
  • Branchini A, Morfini M, Lunghi B, Belvini D, Radossi P, Bury L, Serino ML, Giordano P, Cultrera D, Molinari AC, Napolitano M, Bigagli E, Castaman G, Pinotti M, Bernardi F; GePKHIS Study Group of AICE. F9 Missense mutations impairing factor ix activation are associated with pleiotropic plasma phenotypes. J Thromb Haemost. 2022 Jan;20(1):69-81.
  • Lunghi B, Morfini M, Martinelli N, Balestra D, Linari S, Frusconi S, Branchini A, Cervellera C, Marchetti G, Castaman G, Bernardi F. The asialoglycoprotein receptor minor subunit gene (ASGR2) contributes to pharmacokinetics of factor VIII concentrates in Hemophilia A. Thromb Haemost. 2022 May;122(5):715-725.
  • Lombardi S, Aaen KH, Nilsen J, Ferrarese M, Gjølberg TT, Bernardi F, Pinotti M, Andersen JT, Branchini A. Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity. Br J Haematol. 2021 Jul;194(2):453-462.
  • Branchini A. The carboxyl-terminal region of coagulation serine proteases: A matter of cut and change. J Thromb Haemost. 2021 Apr;19(4):917-919.
  • Lombardi S, Testa MF, Pinotti M, Branchini A. Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches. Int J Mol Sci. 2020 Dec 11;21(24):E9449.
  • Balestra D, Ferrarese M, Lombardi S, Ziliotto N, Branchini A, Petersen N, Bosma P, Pinotti M, van de Graaf SFJ. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency. Int J Mol Sci. 2020 Nov 19;21(22):E8735.
  • Bern M, Nilsen J, Ferrarese M, Sand KMK, Gjølberg TT, Lode HE, Davidson RJ, Camire RM, Bækkevold ES, Foss S, Grevys A, Dalhus B, Wilson J, Høydahl LS, Christianson GJ, Roopenian DC, Schlothauer T, Michaelsen TE, Moe MC, Lombardi S, Pinotti M, Sandlie I, Branchini A*, Andersen JT. An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics. Sci Transl Med. 2020 Oct 14;12(565):eabb0580. *Corresponding author.
  • Ziliotto N, Meneghetti S, Menegatti E, Baroni M, Lunghi B, Salvi F, Ferracin M, Branchini A, Gemmati D, Mascoli F, Zamboni P, Bernardi F, Marchetti G. Expression profiles of the internal jugular and saphenous veins: Focus on hemostasis genes. Thromb Res. 2020 Jul;191:113-124.
  • Branchini A, Pinotti M. A recoded view on the F9 p.Cys178Ter pathogenic mechanism. Thromb Res. 2020 Mar;187:88-90.
  • Lombardi S, Ferrarese M, Marchi S, Pinton P, Pinotti M, Bernardi F, Branchini A. Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants. RNA Biol. 2020 Feb;17(2):254-263.
  • Balestra D, Maestri I, Branchini A, Ferrarese M, Bernardi F, Pinotti M. An altered splicing registry explains the differential ExSpeU1-mediated rescue of splicing mutations causing haemophilia A. Front Genet. 2019 Oct 10;10:974.
  • Balestra D, Branchini A. Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies. Int J Mol Sci. 2019 Jun 21;20(12). pii: E3026.
  • Lunghi B, Bernardi F, Martinelli N, Frusconi S, Branchini A, Linari S, Marchetti G, Castaman G, Morfini M. Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates. J Thromb Haemost. 2019 Aug;17(8):1288-1296.
  • Pignani S, Zappaterra F, Barbon E, Follenzi A, Bovolenta M, Bernardi F, Branchini A*, Pinotti M. Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts. Biochim Biophys Acta Gene Regul Mech. 2019 Jun;1862(6):619-624. *Corresponding author.
  • Ferrarese M, Baroni M, Della Valle P, Spiga I, Poloniato A, D'Angelo A, Pinotti M, Bernardi F, Branchini A. Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition. Haemophilia. 2019 Jul;25(4):685-692.
  • Marchi S, Corricelli M, Branchini A, Vitto VAM, Missiroli S, Morciano G, Perrone M, Ferrarese M, Giorgi C, Pinotti M, Galluzzi L, Kroemer G, Pinton P. Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca(2+) levels and tumor growth. EMBO J. 2019 Jan 15;38(2). pii: e99435.
  • Ferrarese M, Pignani S, Lombardi S, Balestra D, Bernardi F, Pinotti M, Branchini A. The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies. Thromb Res. 2019 Jan;173:4-11.
  • Scalet D, Maestri I, Branchini A, Bernardi F, Pinotti M, Balestra D. Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs. Hum Mutat. 2019 Jan;40(1):48-52.
  • Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. J Thromb Haemost. 2018 Oct;16(10):2035-2043.
  • Ferrerese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A. Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. Hum Mutat. 2018 May;39(5):702-708.
  • Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M. Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity. Haematologica. 2018 Feb;103(2):344-350.
  • Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M. Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations. Blood. 2017 Apr 20;129(16):2303-2307.
  • Branchini A, Ferrarese M, Lombardi S, Mari R, Bernardi F, Pinotti M. Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. J Thromb Haemost. 2016 Oct; 14(10):1994-2000.
  • Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M. An engineered tale-trascription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes. Sci Rep. 2016 Jun 24;6:28304.
  • Martinelli N, Girelli D, Baroni M, Guarini P, Sandri M, Lunghi B, Tosi F, Branchini A, Sartori F, Woodhams B, Bernardi F, Olivieri O. Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study. J Thromb Haemost. 2016 Apr;14(4):655-66.
  • Caselli E, D'Accolti M, Vandini A, Lanzoni L, Camerada MT, Coccagna M, Branchini A, Antonioli P, Balboni PG, Di Luca D, Mazzacane S. Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation. PLoS One. 2016 Feb 17;11(2):e0148857.
  • Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM. Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation. Biochim Biophys Acta. 2015 Oct;1854(10 PtA):1351-6.
  • Branchini A, Baroni M, Burini F, Puzzo F, Nicolosi F, Mari R, Gemmati D, Bernardi F, Pinotti M. The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X. J Thromb Haemost. 2015 Aug;13(8):1468-74.
  • Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M. Coagulation factor VII variants resistant to inhibitory antibodies. Thromb Haemost. 2014 Nov 3;112(5): 972-80.
  • Vandini A, Temmerman R, Frabetti A, Caselli E, Antonioli P, Balboni PG, Platano D, Branchini A, Mazzacane S. Hard surface biocontrol in hospitals using microbial-based cleaning products. PLoS One. 2014 Sep 26;9(9):e108598.
  • Olivieri O, Martinelli N, Baroni M, Branchini A, Girelli D, Friso S, Pizzolo F, Bernardi F. Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the Factor II 20210A allele. J Am Heart Assoc. 2013 Nov 15;2(6):e000440.
  • Branchini A, Campioni M, Mazzucconi MG, Biondo F, Mari R, Bicocchi MP, Bernardi F, Pinotti M. Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity. FEBS Lett. 2013 Oct 1;587(19):3249-53.
  • Cavallari N, Balestra D, Branchini A, Maestri I, Chuamsunrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M. Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant. Biochim Biophys Acta. 2012 Jul;1822(7):1109-1113.
  • Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, Bernardi F. Natural and engineered carboxy-terminal variants: decreased secretion and increased activity result in asymptomatic coagulation factor VII deficiency. Haematologica. 2012 May;97(5):705-9.
  • Pinotti M, Bertolucci C, Frigato E, Branchini A, Cavallari N, Baba K,Contreras-Alcantara S, Ehlen JC, Bernardi F, Paul KN, Tosini G. Chronic sleep deprivation markedly reduces coagulation factor VII expression. Haematologica. 2010 Aug;95(8):1429-32.
  • Monti M, Borensztajn KS, Pinotti M, Canella A, Branchini A, Marchetti G, Reitsma PH, Bernardi F, Spek CA. Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity. Thromb Res. 2009 Apr;123(6):914-8.

 

5.2. PRESENTATIONS AT NATIONAL AND INTERNATIONAL CONGRESSES

a) As invited speaker

  • Invited speaker at the "XIII master course in hempophilia: changings in hemophilia". Title of lecture: "Protein egnineering: (de)sign of prolonged efficacy". Otranto (Italy),  25-26th May 2023.
  • Invited speaker and faculty member at the XXVII National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Title of lecture: “Molecular markers and inhibitor risk in hemophilia A”. Perugia (italy), 2-5th November  2022.
  • Invited speaker and faculty member at the Annual Meeting of the Italian Association of Hemophilia Centres (AICE) 2019. Title of the lecture: “Molecular mechanisms underlying extended half-life factors”. Sorrento (Italy), 14-15th October 2022.
  • Invited speaker for the course entitled "Horizons in the molecular biology for diagnosis and therapy of hemorrhagic disorders". Title of lecture: "Factor VIII mutations and inhibitors". Ferrara (Italy), 4th October 2022.
  • Invited speaker and faculty member at the Annual Meeting of the Italian Association of Hemophilia Centres (AICE) 2019. Title of the lecture: “Molecular mechanisms underlying extended half-life factors”. Rome (Italy), 14-16th October 2021.
  • Invited speaker and faculty member at the XXVI National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Title of lecture: “Molecular biology of enhanced half-life coagulation factors: from design to infusion”. Virtual Congress. 5-7th November  2020.
  • Invited speaker and faculty member at the Annual Meeting of the Italian Association of Hemophilia Centres (AICE) 2019. Title of the lecture: “Molecular characterization of hemophilia, research projects”. Rimini (Italy), 7-9th November 2019.
  • Invited speaker and faculty member at the Pfizer 8th Haemophilia Global Summit. Title of the lecture: “Improved intracellular processing of protein variants as a personalised therapeutic approach for haemophilia”. Rome (Italy), 28-30th September 2017.

b) As first/presenting or last author

  • Lombardi S, Nilsen J, Aaen KH, Ferrarese M, Pinotti M, Bern M, Roopenian DC, Sandlie I, Andersen JT, Branchini A. Rational engineering of a novel factor IX albumin fusion protein results in enhanced coagulant activity and pharmacokinetic profile. XXVI National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Virtual Congress. 5-7th November 2020. Oral Communication.
  • Testa MF, Lombardi S, Ferrarese M, Pinotti M, Castaman G, Radossi P, Belvini D, Bernardi F, Branchini A. Spontaneous readthrough over recurrent F8 nonsense mutations is associated with residual factor VIII levels: implications for inhibitor risk? XXVI National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Virtual Congress. 5-7th November 2020. Plenary Oral Communication.
  • Branchini A, Ferrarese M, Nilsen J, Bern M, Davidson RJ, Camire RM, Roopenian DC, Sandlie I, Lombardi S, Andersen JT, Pinotti M. A next-generation rFVIIa fusion protein with enhanced half-life as a novel by-passing tool in hemophilia. XVII Congress on clinical and social problems of haemophilia - Italian Association of Haemophilia Centres (AICE). Milan (Italy), Octobver 8-11th 2020. Oral Communication.
  • Branchini A, Lombardi S, Nilsen J, Aaen KH, Ferrarese M, Bern M, Roopenian DC, Sandlie I, Andersen JT, Pinotti M. Design of a novel factor IX variant with enhanced procoagulant activity and half-life. XVII Congress on clinical and social problems of haemophilia - Italian Association of Haemophilia Centres (AICE). Milan (Italy), 8-11th October 2020. Oral Communication.
  • Branchini A, Morfini M, Gresele P, Radossi P, Belvini D, Salviato R, Molinari AC, Serino ML, Gemmati D, Biasoli C, Cultrera D, Santoro C, Santoro R, Napolitano M, Pinotti M, Castaman G, Bernardi F. Genotype and PK Hemophilia B International Study (GePKHIS) - A progress Report. XVII Congress on clinical and social problems of haemophilia - Italian Association of Haemophilia Centres (AICE). Milan (Italy), 8-11th October 2020. Poster.
  • Testa MF, Lombardi S, Ferrarese M, Radossi P, Belvini D, Castaman G, Bernardi F, Pinotti M, Branchini A. An in vitro sensitive system unravels traces of full-length factor VIII from the majority of F8 nonsense mutations. XVII Congress on clinical and social problems of haemophilia - Italian Association of Haemophilia Centres (AICE). Milan (Italy), 8-11th October 2020. Oral Communication.
  • Lombardi S, Nilsen J, Aaen KH, Ferrarese M, Pinotti M, Bern M, Roopenian DC, Sandlie I, Andersen JT, Branchini A. Design of a novel factor IX albumin fusion protein with enhanced coagulant activity and pharmacokinetic profile. XXVIII Congress of the nternational Society on Thrombosis and Haemostasis (ISTH). Virtual Congress, 12-14th July 2020. ePoster presentation.
  • Testa MF, Lombardi S, Ferrarese M, Pinotti M, Castaman G, Radossi P, Belvini D, Bernardi F, Branchini A. Detection of residual factor VIII levels reveals the occurrence of readthrough over the majority of F8 nonsense mutations. XXVIII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Virtual Congress, 12-14th July 2020. ePoster presentation.
  • Branchini A, Morfini M, Zordan T, Bonsi M, Pinotti M, Serino ML, Radossi P, Belvini D, Castaman G, Bernardi F. Favourable recombinant factor IX pharmacokinetics outcomes in severe hemophilia B patients with FIX activation site mutations. XXVII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Melbourne (Australia), 6-10th July 2019. Poster presentation.
  • Lombardi S, Testa MF, Pinotti M, Castaman G, Radossi P, Bernardi F, Branchini A. Exploring spontaneous readthrough over recurrent F8 nonsense mutations: potential correlation with inhibitor risk? XXVII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Melbourne (Australia), 6-10th July 2019. Oral Communication.
  • Ferrarese M, Nilsen J, Pinotti M, Bern M, Davidson RJ, Camire RM, Lode HE, Roopenian DC, Sandlie I, Lombardi S, Castaman G, Andersen JT, Branchini A. Next generation factor VIIa with enhanced half-life. XXVII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Melbourne (Australia), 6-10th July 2019. Poster presentation.
  • Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation. XXV Congresso Nazionale della Società Italiana per lo Studio dell’Emostasi e della Trombosi (SISET). Firenze (Italia), 7-10 novembre 2018. Comunicazione orale Plenaria.
  • Ferrarese M, Pignani S, Lombardi S, Balestra D, Bernardi F, Pinotti F, Branchini A. The carboxyl-terminal region of human coagulation factor X as a novel naturally-occurring linker for fusion strategies. XXV Congresso Nazionale della Società Italiana per lo Studio dell’Emostasi e della Trombosi (SISET). Firenze (Italia), 7-10 novembre 2018. Comunicazione orale Plenaria conferita al primo autore.
  • Ferrarese M, Baroni M, Della Valle P, Spiga I, Poloniato A, D’Angelo A, Bernardi F, Branchini A. Mutation-specific contributions to trace factor X levels account for a life-threating phenotype in a compound heterozygous factor X deficient patient. XXV Congresso Nazionale della Società Italiana per lo Studio dell’Emostasi e della Trombosi (SISET). Firenze (Italia), 7-10 novembre 2018. Comunicazione orale.
  • Lombardi S, Ferrarese M, Pinotti M, Mari R, Bernardi F, Branchini A. Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency. XXV Congresso Nazionale della Società Italiana per lo Studio dell’Emostasi e della Trombosi (SISET). Firenze (Italia), 7-10 novembre 2018. Comunicazione orale.
  • Ferrarese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A. Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing Hemophilia B. XXV Congresso Nazionale della Società Italiana per lo Studio dell’Emostasi e della Trombosi (SISET). Firenze (Italia), 7-10 novembre 2018. Comunicazione orale.
  • Branchini A, Ferrarese M, Pinotti M, Bernardi F, Morfini M. Recombinant expression of F9 nonsense mutations and FIX pharmacokinetics in Hemophilia B. 64th Annual Meeting of the Scientific Standardization Committee (SSC) of the International Society on Thrombosis and Haemostasis (ISTH). Dublin (Irleand), 18-21st July 2018. Poster (top rated).
  • Ferrarese M, Bernardi F, Pinotti M, Branchini A. Identification of novel mechanisms underlying functional response to drug-induced readthrough of Haemophilia B nonsense mutations. 23rd Congress of the European Hematology Association (EHA). Stockholm (Sweden), 14-17th June 2018. Poster and EHA Travel Grant conferred to the first/presenting author.
  • Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing Hemophilia B. 23rd Congress of the European Hematology Association (EHA). Stockholm (Sweden), 14-17th June 2018. Oral Communication.
  • Morfini M, Bernardi F, Branchini A. F9 genotype and PK Hemophilia B International study (GePKHIS). 11th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD). Madrid (Spain), 7-9th February 2018. Poster.
  • Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Pinton P, Bernardi F, Pinotti M, Branchini A. Exploring chaperone-like compounds as innovative therapeutic correction approach for factor IX missense mutations causing type I Haemophilia B. XVI Congress on clinical and social problems of Haemophilia - Italian Association of Haemophilia Centres (AICE). Naples (Italy), November 9-12th 2017. Oral Communication and AICE "Prof. Raffaello de Biasi" Award for the best abstracts conferred to the first/presenting author.
  • Branchini A, Ferrarese M, Castaman G, Bernardi F, Pinotti M. An optimized in vitro expression platform identifies Haemophilia B nonsense mutations, and thus patients, eligible for therapeutic drug-induced readthrough. XVI Congress on clinical and social problems of Haemophilia - Italian Association of Haemophilia Centres (AICE). Naples (Italy), November 9-12th 2017. Oral Communication.
  • Pignani S, Ferrarese M, Lombardi S, Marchi S, Todaro A, Pinton P, Bernardi F, Pinotti M, Branchini A. Exploring chaperone-like compounds as innovative therapeutic strategy for Hemophilia B. XXVI Congress of the International Society on Thrombosis and Haemostasis (ISTH). Berlin (Germany), July 8-13th 2017. Abstract and “Young Investigator Award” conferred to the first/presenting author.
  • Branchini A, Baroni M, Burini F, Mari R, Gemmati D, Puzzo F, Bernardi F, Pinotti M. The carboxyl-terminal region is not essential for secreted and functional levels of coagulation factor X. XXIV National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Abano Terme (Italy), November 9-12th 2016. Plenary Oral Communication.
  • Branchini A, Ferrarese M, Lombardi S, Baroni, Campioni M, Burini F, Bernardi F, Pinotti M. Responsiveness of Hemophilia B-causing nonsense mutations to ribosome readthrough-inducing drugs strictly depends on the nucleotide and protein context. 21st Congress of the European Hematology Association (EHA). Copenhagen (Denmark), June 9-12th 2016. Oral Communication.
  • Branchini A, Ferrarese M, Baroni M, Campioni M, Burini F, Nicolosi F, Castaman G, Radossi P, Bernardi F, Pinotti M. Suppression of “leaky” nonsense mutations by ribosome readthrough accounts for residual factor IX levels in Haemophilia B patients. XXV Congress of the International Society on Thrombosis and Haemostasis (ISTH), Toronto (Canada), June 20-25th, 2015. Oral Communication.
  • Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani JF, Bernardi F, Pinotti M. Coagulation factor VII variants resistant to inhibitory antibodies. XXIII National Congress of the Italian Society on the Study of Haemostasis and Thrombosis (SISET), Milan (Italy), November 6-9th, 2014. Oral Communication.
  • Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Mariani G, Pinotti M, Bernardi F. Characterization by binding and functional assays of inhibitory antibodies directed to the carboxyl-terminal region of activated coagulation factor VII. 57th National Meeting of the Italian Society of Biochemistry and Molecular Biology (SIB). Ferrara (Italy), September 18-20th, 2013. Oral Communication and Poster.
  • Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Mariani G, Pinotti M, Bernardi F. Mapping of inhibitory antibodies directed to the carboxy-terminus of FVIIa in severe FVII deficiency with elongated C-terminal variant (p.A354V-p.P464Hfs†). XXIV Congress of the International Society on Thrombosis and Haemostasis (ISTH). Amsterdam (The Netherlads), July 1-4th, 2013. ePoster.
  • Branchini A, Baroni, M Batorova A, Giansily-Blaizot M, Mariani G, Pinotti M, Bernardi F. “Immune response to treatment in a severe factor VII deficient patient: characterization of the inhibitory antibody and epitope-mapping”. XXII National Congress of the Italian Society on the Study of Haemostasis and Thrombosis (SISET), Vicenza (Italy), October 4-6th, 2012. Poster.
  • Branchini A, Rizzotto L, Canella A, Mari R, Lapecorella M, Napolitano M, Mariani G, Pinotti M, Bernardi F.The FVII R402X nonsense mutation, associated with an asymptomatic phenotype, is responsible for small amounts of circulating protein with improved coagulant activity. XXIII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Kyoto (Japan), July 23-28th, 2011. Oral Communication.
  • Branchini A, Rizzotto L, Canella A, Giansily-Blaizot M, Mariani G, Bernardi F, Pinotti M. Naturally occurring truncated proteins: decreased protein secretion and increased activity result in asymptomatic coagulation factor deficiency. 36th FEBS Congress. Torino (Italy), June 25-30th, 2011. Poster.
  • Branchini A, Rizzotto L, Giansily-Blaizot M, Canella A, Mari R, Lapecorella M, Napolitano M, Mariani G, Pinotti M, Bernardi F. Association of the homozygous nonsense mutation R402X in coagulation factor VII with asymptomatic phenotype. XXI National Congress of the Italian Society on the Study of Haemostasis and Thrombosis (SISET). Bologna (Italy), October 28-31st, 2010. Oral Communication.

c) Abstracts

  • Lunghi B, Morfini M, Martinelli N, Frusconi S, Balestra D, Branchini A, Linari S, Marchetti G, Castaman G, Bernardi F. Contribution of asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms to full-length FVIII concentrate pharmacokinetics XXVI National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Virtual Congress. 5-7th November 2020. Poster.
  • Lunghi B, Morfini M, Martinelli N, Frusconi S, Balestra D, Branchini A, Linari S, Marchetti G, Castaman G, Bernardi F. The asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms influence several parameters of full-length FVIII concentrate pharmacokinetics. XVII Congress on clinical and social problems of haemophilia - Italian Association of Haemophilia Centres (AICE). Milan (Italy), 8-11th October 2020. Poster
  • Pignani S, Zappaterra F, Barbon E, Bovolenta M, Bernardi F, Branchini A, Pinotti M. CRISPR activation on coagulation F7 or F8 promoters potentiate trascriptional activity in the normal and mutated gene context. XXVII Congress of the International Society on Thrombosis and Haemostasis (ISTH). Melbourne (Australia), 6-10th July 2019.
  • Donadon I, McVey J, Garagiola I, Mortarino M, Branchini A, Peyvandi F, Bernardi F, Pinotti M. Combination of reduced mRNA splicing and protein secretion/function determines coagulation factor VIII expression in hemophilia. 59th Congress of the Italian Society of Biochemistry and Molecular Biology (SIB), Caserta (Italy), 20-22nd September 2017.
  • Donadon I, McVey J, Garagiola I, Mortarino M, Branchini A, Peyvandi F, Bernardi F, Pinotti M. Clustered F8 missense mutations cause Hemophilia A phenotypic heterogeneity by combination of altered splicing, protein secretion and activity. 9th BIC International Conference. Rome (Italy), 15-17th September 2017.
  • Donadon I, McVey J, Garagiola I, Mortarino M, Branchini A, Peyvandi F, Bernardi F, Pinotti M. Clustered F8 Missense Mutations Cause Hemophilia A Phenotypic Heterogeneity by Combination of Altered Splicing, Protein Secretion and Activity. XXVI Congress of the International Society on Thrombosis and Haemostasis (ISTH). Berlin (Germany), July 8-13th 2017.
  • Ferrarese M, Branchini A, Campioni M, Mari R, Castaman G, Bernardi F, Pinotti M. Responsiveness of hemophilia B-causing nonsense mutations to ribosome readthrough-inducing drugs strictly depends on the nucleotide and protein context. XXIV National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Abano Terme (Italy), November 9-12th 2016.
  • Barbon E, Pignani S, Branchini A, Bernarid F, Pinotti M, Bovolenta M. An engineered TALE-Transcription factor rescues F7 promoter activity impaired by mutations causing severe factor VII deficiency. XXIV National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Abano Terme (Italy), November 9-12th 2016.
  • Balestra D, Bovolenta M, Branchini A, Pinotti M, Bernardi F. Molecular mechanisms and therapeutic approaches for restoration of mRNA transcription, maturation and translation in inherited coagulation factor deficiencies. XXIV National Congress of the Italian Society for Thrombosis and Hemostasis (SISET). Abano Terme (Italy), November 9-12th 2016. Abstract for State of the Art Lecture.
  • Ferrarese M, Branchini A, Baroni M, Bernardi F, Pinotti M. “Productive” readthrough over nonsense mutations depends on the interplay between translation termination efficiency and impact of aminoacid substitutions on protein biology. 58th National Meeting of the Italian Society of Biochemistry and Molecular Biology (SIB), Urbino (Italy), September 14-16th, 2015.
  • Baroni M, Branchini A, Guarini P, Tosi F, Sartori F, Campioni M, Puzzo F, Woodhams B, Girelli D, Olivieri O, Bernardi F, Martinelli N. High plasma concentration of activated factor VII-antithrombin complex is associated with an enhanced thrombin generation. XXV Congress of the International Society on Thrombosis and Haemostasis (ISTH), Toronto (Canada), June 20-25th, 2015.
  • Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M. Engineered transcription factors (TALE-TFs) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations. XXV Congress of the International Society on Thrombosis and Haemostasis (ISTH), Toronto (Canada), June 20-25th, 2015.
  • Sartori F, Tosi F, Lunghi B, Guarini P, Baroni M, Branchini A, Woodhams B, Girelli D, Olivieri O, Bernardi F, Martinelli N. Tissue factor and factor vii gene polymorphisms influencing FVIIa-AT plasma concentration are not uniformly associated with mortality in patients with stable coronary artery disease. XXV Congress of the International Society on Thrombosis and Haemostasis (ISTH), Toronto (Canada), June 20-25th, 2015.
  • Balestra D, Dal Mas A, Rogalska ME, Barbon E, Scalet D, Donadon I, Ferrarese M, Bussani E, Pianigiani G, Ferraresi P, Branchini A, Bovolenta M, Baroni M, Mattioli C, Pagani F, Pinotti M. XVIII Telethon Scientific Convention. Riva del Garda (Italy), March 9-11th, 2015.
  • Tosi F., Martinelli N., Baroni M., Guarini P., Udali S., Branchini A., Woodhams B., Bernardi F. Olivieri O. Activated Factor VII: antithrombin complex plasma concentration in subjects with or without angiographically demonstrated coronary artery disease and myocardial infarction. XXIV Congress of the International Society on Thrombosis and Haemostasis (ISTH), Amsterdam (The Netherlands), July 1-4th, 2013.
  • Cavallari N, Balestra D, Rizzotto L, Branchini A, Maestri I, Chuansumrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M. ‘Compensatory’ aberrant splicing supports residual expression levels in severe coagulation factor VII deficiency. XXIII Congress of the International Society on Thrombosis and Haemostasis (ISTH), Kyoto (Japan), July 23-28th, 2011.
  • Pinotti  and Pagani F, Balestra D, Baroni M, Branchini A, Bussani E, Canella A, Campioni M, Cavallari N, Dal Mas A, Fernandez E, Ferraresi P, Mattioli C. RNA-based therapeutic approaches for blood coagulation factor deficiencies caused by splicing mutations. XVI Telethon Scientific Convention , Riva del Garda (Italy), March 7-9th, 2011.
  • Bertolucci C, Pinotti M, Cavallari N, Frigato E, Branchini A, Baba K, Contreras-Alcantara S, Paul K, Foà A, Bernardi F, Tosini G. Effects of chronic sleep deprivation on the mouse blood coagulation cascade. XI Congress of the European Biological Rhythms Society, Strasburgo (France), August 22-28th, 2009.
  • Pinotti M, Marchetti G, Rizzotto L, Balestra D, Caruso P, Branchini A, Casari C, Baroni M, Ferraresi P, Canella A, Bernardi F. Non-conventional therapeutic strategies for inherited disorders of hemostasis. XV Telethon Scientific Convention, Riva del Garda (Italy), March 9-11th, 2009.
  • Monti M, Borensztajn KS, Pinotti M, Canella A, Branchini A, Bellini T, Marchetti G, Reitsma PH, Spek CA, Bernardi F. Characterization of PAR-mediated signaling induced by activated coagulation Factor X mutants. 52th National Meeting of the Italian Society of Biochemistry and Molecular Biology (SIB), Riccione (Italy), September 26-28th, 2007.

 

5.3. RESEARCH PROJECTS - Principal Investigator

  • 2024. Telethon Grant. Title of the project: "Translational correction approaches targeting nonsense mutations in hemophilia A (Transleight).
  • 2021. Novo Nordisk Access to Insight Basic Research Grant. Title of the project: “Insights into the contribution of tailored collagen binding to half-life of designed factor IX fusion proteins”.
  • 2018. Grifols Martin Villar Haemostasis Award - Clinical Research Award. Title of the project: “Do residual FVIII levels associated with F8 nonsense mutations reduce the inhibitor risk in hemophilia A patients?”.
  • 2018. Early Career Investigator Award (Bayer Hemophilia Awards Program). Title of the project: “Factor IX variants with superior pharmacokinetics as next-generation therapeutics for Haemophilia B”.
  • 2018. AICE (Italian Society of Hemophilia Centers) project. Title of the project: “Hemophilia A patients with nonsense mutations: residual factor VIII expression levels and development of inhibitory antibodies” .
  • 2015. Pfizer EUROPE ASPIRE 2015 Grant. Title of the project: “Improved intracellular processing of protein variants as a personalized therapeutic approach for Haemophilia”.

 

5.4. RESEARCH PROJECTS - Collaborator

  • 2017-2019. Pfizer project entitled “F9 Genotype and PK Hemophilia B Italian Study (GePKHIS)” (Coordinator Prof. Francesco Bernardi).
  • 2014-2017. Telethon Grant: Development of a RNA-based therapeutic approach for Hemophilia B caused by exon-skipping mutations (Coordinator Prof. Pinotti).
  • 2014-2016. Pfizer EUROPE ASPIRE 2014 Grant: “Residual factor IX expression in Hemophilia B patients with nonsense mutations: a determinant of inhibitory development?” (Coordinator Prof. Pinotti).
  • 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 (Coordinator Prof. Pinotti).
  • 2014-2015. AFM-Telethon Grant. Correction of duplications in the DMD gene by a CRISPR/Cas9 approach (Coordinatore Dr. Bovolenta).
  • 2009-2013. Telethon Grant: RNA-based therapeutic approaches for blood coagulation factor deficiencies caused by splicing mutations (Coordinator Prof. Pinotti).
  • 2008-2011. MIUR, PRIN " Post-transcriptional and translational mechanisms involved in gene expression regulation in physiological and pathological condisions (Coordinator Prof. Pinotti).
  • 2008-2011. Cassa di Risparmio di Ferrara Foundation: Investigation of novel therapeutic approaches for congenital disorders of blood coagulation (Coordinator Prof. Pinotti).
  • 2005-2007. Telethon Grant: Non-conventional therapeutic strategies for inherited disorders of hemostasis (Coordinator Prof. Bernardi).

 

5.5. NATIONAL AND INTERNATIONAL COLLABORATIONS

  • Prof. Giancarlo Castaman, Centro malattie emorragiche e della coagulazione, azienda Ospedaliero-Universitaria Careggi, Firenze;
  • Prof. Paolo Pinton, Dipartimento di Morfologia, chirurgia e medicina sperimentale, Università degli Studi di Ferrara.
  • Dott. Muriel Giansily-Blaizot, CHU de Montpellier, Département d’Hématologie Biologique, Hôpital Saint Eloi, Montpellier, France.
  • Prof. John McVey, School of Bioscience & Medicine, University of Surrey, Guildford, United Kingdom.
  • Prof. Rodney Camire, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Prof. Jan Terje Andersen, Centre for Immune Regulation and Department of Biosciences, University of Oslo, Oslo, Norway.
  • Dr. John Lueck, University of Rochester Medical Center, Rochester, USA.

 

5.6. EDITOR AND REVIEWER ACTIVIY FOR MANUSCRIPTS AND PROJECTS

5.6.1. EDITORIAL ROLES

  • Academic Editor for PLoS One.
  • Associate Editor for Frontiers in Molecular Biosciences - section Molecular Diagnostics and Therapeutics.
  • Associate Editor for Frontiers in Genetics - specialty section of Genetic Disorders.
  • Editorial Boar Member of IUBMB Life.
  • Editorial Advisory Board member of FEBS Open Bio
  • Guest Editor di IUBMB Life per lo Special Issue "From DNA to protein: molecular mechanisms and tailored approaches to correct genetic defects associated with human disorders ".
  • Section Editor of DNA and Cell Biology Reports.
  • Editorial Advisory Board member of FEBS Open Bio
  • Editorial Board Member of BMC Genomics.
  • Editorial Board Member of International Journal of Biochemistry and Cell Biology - Section of Molecular Biology & Genetics.
  • Editorial Board Member of DNA and Cell Biology.
  • Review Editor for Frontiers in Molecular Biosciences (Editorial Board of the Molecular Diagnostics and Therapeutics section).
  • Review Editor for Frontiers in Cells and Developmental Biology and Frontiers in Oncology (Editorial Board of the Molecular and Cellular Oncology section).

5.6.2. REVIEWER FOR SCIENTIFIC MANUSCRIPTS ON INTERNATIONAL JOURNALS

  • Acta Haematologica; Biotechnology Progress; Blood; Blood Cells, Molecules & Diseases; Cells; Database; DNA & Cell Biology; Expert Opinion on Investigational Drugs; FEBS Open Bio; Frontiers in Genetics; Gene Therapy; Haematologica; Haemophilia; Hematology; Human Mutation; Journal of Thrombosis and Haemostasis; Molecular Biology Reports; Molecular Biotechnology; PLoS One; Science Progress; Scientific Reports; The International Journal of Biochemistry & Cell Biology; The Protein Journal; Thrombosis and Haemostasis; Thrombosis Research.

5.6.3. APPOINTMENTS AS SCIENTIFIC EXPERT FOR INTERNATIONAL GRANT PROPOSALS

  • French National Research Agency (ANR) Work Programme (2017).
  • Israel Science Foundation (ISF) Personal Research Grants Programme (2022).
  • Gilbert Family Foundation - Gene therapy panel (2023).

 

5.7. LABORATORY TECHNIQUES AND METHODS

Polymerase Chain Reaction (PCR) and Real-Time PCR, DNA and RNA estraction, RT-PCR, enzymatic restriction with endonucleases, electrophoretic techniques for nucleic acids and proteins, DNA sequencing (Sanger method), DNA cloning, site-directed mutagenesis, prokaryotic and eukaryotic cell culture, transient and stable expression of recombinant proteins in mammalian cells, recombinant protein purification (ion exchange and immunoaffinity chromatography, and dialysis), Western blotting, ELISA, binding and competition assays, spectrophotometric techniques, functional assays with chromogenic/fluorogenic substrates with recombinant proteins (both in reconstituted and plasma systems) and with plasma samples from patients with coagulation disorders, binding and competition assays by fluorescent bead-based assays (Bio-Plex platform), Prothrombin Time (PT)-based and activated Partial Thromboplastin Time (aPTT)-based assays.


6. TEACHING ACTIVITY AT THE UNIVERSITY OF FERRARA

  • 2019-present: course of Molecular Biology for the Bachelor's degree in Medical Biotechnology and inn Biological Sciences.
  • 2008-present: lessons and laboratory practice for students of the Bachelor's and Master's degrees in Biological Sciencies and Biotechnology.
  • 2016-present: course of Applied Biochemistry and Proteomics for the Master’s degree in Biomolecular and Evolutionary Sciences, Molecular and Cellular Biology Curiculum.
  • 2016/2017: activity as teacher, researcher and trainer for clinical haematologists and postgraduate medical students in the frame of the European Union Tempus project entitled “The development of a curriculum and establishment of a regional training platform for haematology sciences and medicine (DECERPH 2013-2016, project 544282-TEMPUS-2013-JPCR), coordinated by the University of Westminster.
  • 2014-16: teaching module “Macromolecular complexes in the physiological and altered termination of protein translation” for the course of Biological Macromolecules for the Master's degree in Biomolecular and Evolutionary Sciences.
  • 2010-2016: Short-term contract as laboratory technician for teaching activity and laboratory practice for students of the Bachelor’s degree in Biology.
  • 2008-2010: tutoring activity for the courses of Biochemistry and Molecular Biology for the Faculties of i) Mathematical, Physical and Natural Sciences, ii), Faculty of Medicine and Surgery, and iii) Biotechnology.
  • Supervisor for thesis of students of the Bachelor's degrees in Biological Sciences and Biotechnology, and Master's degrees in Biomolecular and Cellular Sciences, Biomolecular and Evolutionary Sciences and Biotechnology for Environment and Health.
  • Co-tutor for PhD candidates of the PhD program in Biomedical and Biotechnological Sciences.

 

7. TEACHING ACTIVITY AT OTHER ACADEMIC INSTITUTIONS

  • Invited lecture entitled “Thrombin generation assay in coagulation disorders with a focus on Hemophilia A” in the frame of the PhD Program in Medical Sciences and Biotechnology, Università del Piemonte Orientale (UPO). 11 october 2018, Novara (Italy).

 

8. MISCELLANEOUS

  • Member of the Italian Society of Biophysics and Molecular Biology (SIBBM).
  • Member of the Italian Society of Biochemistry and Molecular Biology (SIB).
  • Member of the Italian Society of Hemophilia Centers (AICE).
  • Member of the Italian Society on the Study of Haemostasis and Thrombosis (SISET)
  • Member of the International Society on Thrombosis and Haemostasis

 

WEB SITES:

http://orcid.org/0000-0002-6113-2694

https://loop.frontiersin.org/people/510225/overview