NAME and POSITION
DONATO GEMMATI
Full Professor in Clinical Biochemistry & Molecular Biology, [05E3/BIO12]
University of Ferrara, Ferrara, Italy
EDUCATION / PROFESSIONAL OVERVIEW
-12 Jan 1963, born in Rome, Italy
-1987: Degree in Biology, University of Ferrara, Italy
-1988: Fellow and Lecturer at Hemostasis & Thrombosis Centre, Ferrara University, Italy
-1991: Fellow and Lecturer at Human Genome Pathology Centre, Ferrara University, Italy
-2001: Researcher at Hematology Unit, University of Ferrara, Italy
-2004: Board member of the Molecular Medicine PhD Course, University of Ferrara
-2006: Specialized in Medical Genetics, University of Ferrara, Italy
-2009: Director of the Interdepartmental Research Center of Haemostasis & Thrombosis, Department of Biomedical Sciences, University of Ferrara, Italy
-2010: PhD in Biomedical Sciences, University of Ferrara, Italy
-2013: Scientific Board Member for Umbilical Cord Stem Cells in Sorgente Group s.r.l. (Milan, Italy
-2016: Associate Professor in Medical Genetics, University of Ferrara, Italy
-2017: Directive Board on the Strategic Centre of Gender Medicine ; UniFe, Italy
-2018: Lecturer on Immunology & immunoheamatology for the international PhD Public Health program (Telavi State University (TeSaU), Georgia.
-2021: Full Professor of Clinical Biochemistry & Molecular Biology, University of Ferrara, Italy
-Member of the Italian Society of Human Genetics (SIGU)
-Member of the Italian Society of Haemostasis & Thrombosis (SISET)
-Member of the Association of the Italian Centers of Haemophilia (A.I.C.E.)
AREA OF INTEREST
Monogenic and polygenic diseases including: Genetics of blood coagulation disorders, genetics of Hemophilias, inherited thrombophilia, molecular basis of hematological malignancies, Pharmacogenetics, molecular basis of cardiovascular diseases, Wound-healing, Myocardial infarction, genetics and molecular basis of Bio-scaffold and Heart remodeling. Epigenomics and Epidrugs.
RESEARCH FIELDS
The research and the clinical activity is mainly aimed to medical genetics, and in this area it deals with the study of hematology (oncology and non-oncology hematology), the major monogenic coagulopathies [i.e. hemophilia (A and B)] and those with mixed genetic component (polygenic and multifactorial) of inherited thrombophilia and cardiovascular diseases.
Genetic counseling is mainly carried out for the determination of the status of carrier and for the prenatal diagnosis in the presence of coagulopathies (monogenic X-linked and autosomic such as von Willebrand disease and congenital defects of other coagulation factors).
The genetic counseling is carried out also for the choice of the relevant genetic testing for determination and interpretation of molecular screening in inherited thrombophilia as well as within the network of the Technical Committee for the Genetics of Hemophilia (AICE).
Hematological malignancies are investigated by approaching molecular analyses in the main candidate genes (e.g. JAK2, NPM1, CALR1, FLT3) in the Labs of the Dipartimental Centre of Molecular Biology (CDBM) AzOspFe, Ferrara, Italy.
Particular interest is directed towards pharmacogenetics in terms of therapeutic efficacy, survival, and toxicity evaluation, and monitoring of minimal residual disease in onco-hematology.
Folate pathway gene variants have been widely investigated in the filed of acute leukemia and lymphoma and inherited thrombophilia.
Degenerative diseases are investigated with the aim of recognizing candidate genes and molecular markers implicated in oxidative-stress, iron homeostasis and tissue regeneration. The design and creation of DNA-arrays for both research and diagnostic purposes is performed in several pathological settings after selection of candidate genes for disease risk susceptibility evaluation.
Diagnostic and clinical investigations are conducted in both individual and family studies, as well in population case-control studies. Epigenomics of complex diseases and investigation of the molecular mechanisms of aging in Reproductive Medicine; Neurodevolpment; Neurodegenerative Diseases. Telomere attrition, methylation, and ncRNAs are investigated as predictors of longevity and indicators of gap between chronological versus biological age.
The interpretation of genetic data and of the variability of complex phenotypes is analyzed and compared with data collected in genetic counseling in conjunction with the specific team of the clinical pathology in study with the aim of a translational genetics approach to the disease.
GRANTS AND RESEARCH PROJECTS
-1997: Ricerca Biomedica Az. Ospedaliera di Ferrara “Difetti congenito-ereditari, combinati e non di malattie tromboemboliche in associazione con fattori di rischio acquisiti”. (36 months, Role: principal collaborator, Coordinator Dr. F. Mascoli, University-Hospital of Ferrara, Italy)
-1997: C.N.R. “Stati Trombofilici Primari congeniti e acquisiti. Nuovi fattori patogenetici: la resistenza alla Proteina C Attivata”. (24 months, Role: principal collaborator, Coordinator Prof. S. Coccheri, University of Bologna, Italy)
-2001: Telethon, ”Factor IX mutation type in the cohort of the Haemophilia B Italian patients”. (24 months, national study, Coordinator Dr G. Tagariello, Castelfranco Veneto Hospital, Treviso, Italy)
-2002-2017: FAR di Ateneo, local University research (Principal investigator)
-2004-2005: PRIN-prot. 2004060322_005; "Role of coagulation factor XIII in the pathogenesis of chronic venous ulcers (CVU): epidemiological and in vitro studies". (24 mesi afferente all'unità di ricerca, Coordinatore Prof. A. Liboni, University of Ferrara)
-2007-2009: Italian Association Against Leukemia & Lymphoma (AIL). Acute lymphoblastic leukemia and lymphoma in adult: pharmacogenetics, toxicity and patients survival
-2009-2010: PRIN-prot. 2009NZAZSJ_001; "Impact of common genetic polymorphisms in the efficacy of combined ocular treatments in Caucasian patients with choroidal neovascularization secondary to age-related macular degeneration". (24 months, Local research unit, Coordinator Prof. A. Sebastiani, University of Ferrara)
-2011-2013: (ALT, Association Against Thrombosis & Cardiovascular diseases): "FXIII levels in myocardial infarction: A novel prognostic biomarker? From Pharmacogenetics to tailored therapeutic approaches”. (36 month; Project coordinator and PI)
-2011-2013: European TEMPUS PROJECT, JPCR-544282 DECERPH “The Development of a Curriculum and Establishment of a Regional Training Platform for Haematology in Life Sciences and Medicine” (36 months, Local Team Leader
-2016-2017: European TEMPUS PROJECT, JPCR-544282 DECERPH (Local Team Coordinator
-2020-2021: Emilia-Romagna Region: High Skills for Research, Technology Transfer and Entrepreneurship. "Integrated design of multifunctional 3D-bioscaffolds for the development of personalized therapies based on heart "self-repair" after acute myocardial infarction: an innovative vision of regenerative medicine". (Gemmati Donato: 1 year, Project coordinator)
-2021-2023: Emilia-Romagna Region: High Skills for Research, Technology Transfer and Entrepreneurship. “Artificial intelligence techniques to study health status, epidemiology and exposure risk for the identification of individual genetic risk factors in Covid-19 and in vaccines response”. (Gemmati Donato: 3 years, Project coordinator)
-2022-2024: PNRR-MAD-2022-12376475 M6/C2_CALL 2022 Ministero della Salute: Effect of infections and Global DNA Methylation on Frailty Trajectories in Hospitalized Older Patients: A multicenter observational study, (Co-PI).
-2024-2027: Banca d'Italia -F73C24000740003. A multiOMICS approach for targeting the molecolar signature of Autism Spectrum Disorder.
DIRECTION of RESEARCH PROJECTS (NATIONAL and INTERNATIONAL)
-"Gene-gene and gene-environment interactions in childhood ALL: CDKN2A gene and maternal folate SNPs" in collaborazione con Oncoematologia Pediatrica del Policlinico di Bari (UNIBA); Ginecologia ed Ostetricia dell'Università di Ferrara (UNIFE); il Pediatric Department of Hematology and Oncology Unit - Tanta University (Egypt).
-"Molecular marker identification by extreme phenotype sampling in childhood acute lymphoblastic leukaemia: Next Generation Sequencing (NGS) approach in mother-child dyad" in collaborazione con Oncoematologia Pediatrica del Policlinico di Bari (UNIBA); Armenian Haematology Center, Department of Hematology, Yerevan State Medical University (Armenia).
-"Acute myocardial infarction and left ventricular remodelling in human and animal models: a proposed therapeutic strategy to repair the failing heart by enhancing endogenous stem cells recruitment and optimizing the secretome of the local fibrin bio-patch at the injury site". in collaborazione con Cardiovascular Section, Medical Sciences Department, Azienda Ospedaliera-Universitaria S.Anna, Ferrara, Italy; Laboratory for Technologies of Advanced Therapies (LTTA), University of Ferrara, Ferrara, Italy.
-"Organoids and minibrain". Fondation pour Recherches Médicales; 1205 Genève, Switzerland.
MULTICENTRES STUDIES (NATIONAL and INTERNATIONAL)
[1]. 1999-2002 – Genetics Study on Coronary Heart Disease Susceptibility. Division of Human Nutrition and Epidemiology, Wageningen University, MTHFR Studies Collaboration Group; (MTHFR 677C→T Polymorphism and Risk of Coronary Heart Disease). JAMA. 2002;288(16):2023-31. doi: 10.1001/jama.288.16.2023
[2]. 2003-2004 – Genetic Standard Research in Inherited Thrombophilia. Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium; (Reference Materials (RMs) for analysis of the Human Factor II (Prothrombin) Gene G20210A mutation). Clin Chem Lab Med. 2005;43(8):862-8. doi: 10.1515/CCLM.2005.145
[3]. 2009-2011 – Inherited Genetic Susceptibility in Pediatric Cancer. Section of Cancer Genetics, Molecular Genetics Centre, Institute of Cancer Research, Sutton, Surrey, UK; (Rationale for an International Consortium to study inherited genetic susceptibility to Childhood Acute Lymphoblastic Leukemia). Haematologica. 2011;96(7):1049-54. doi: 10.3324/haematol.2011.040121
[4]. 2010-2012 - Genetics Study on Coronary Heart Disease Susceptibility. Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), University of Oxford, Oxford, United Kingdom; MTHFR Studies Collaborative Group; (Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias). PLoS Med. 2012; 9(2): e1001177. doi: 10.1371/journal.pmed.1001177
[5]. 2010-2013 – Gene-Gene and Gene-Environment Interactions in Inherited Thrombophilia Susceptibility. Institute of Public Health - Section of Hygiene, Department of Public Health, Università Cattolica del Sacro Cuore, Roma Italy; (Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls). Eur J Epidemiol. 2013; 28(8):621–647. doi: 10.1007/s10654-013-9825-8
[6]. 2012-2014 - Pharmacogenetics Study in Cancer Treatment (multigene approach). Department of Pediatric Hematology-Oncology, and Department of Human Genetics Radboud University Medical Centre, Nijmegen, The Netherlands; (The role of the MTHFR 677C>T polymorphism in Methotrexate-induced liver toxicity: a meta-analysis in patients with cancer). Pharmacogenomics J. 2014;14(2):115-9. doi: 10.1038/tpj.2013.19
[7]. 2015-2017 – Gene-Burden Allele Assessment in JAK2 Gene. Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology L. and A. Seràgnoli, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy; (Assessment of the interlaboratory variability and robustness of JAK2-V617F mutation assays: A study involving a Consortium of 19 Italian laboratories). Oncotarget. 2017 16;8(20):32608-32617. doi: 10.18632/oncotarget.15940
[8]. 2019-2020 – International Pharmacogenetics Guidelines: “STrengthening the Reporting of Pharmacogenetic Studies: Development of the STROPS guideline”. PLoS Med 17 (9), e1003344. doi: 10.1371/journal.pmed.1003344
[9]. 2018-2021 – Pharmacogenetics Study in Cancer Treatment. Division of Pharmacoepidemiology & Clinical Pharmacology, Utrecht University, and British Columbia Children's Hospital, Vancouver, Canada: (Genetic variants associated with methotrexate-induced mucositis in cancer treatment: a systematic review and meta-analysis - PROSPERO registration ID: CRD42018092843). Crit Rev Oncol Hematol. 2021;161:103312. doi: 10.1016/j.critrevonc.2021.103312
[10]. 2018-2021 – National Multicentre study F9 Genotype and PK Hemophilia B Italian Study (GePKHIS): "F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes". J Thromb Haemost. 2022;20:69-81. doi: 10.1111/jth.15552
PRIZES AND AWARDS
-Young investigator Award at the International Society on Thrombosis & Haemostasis (ISTH): Amsterdam 1991, New York 1993, Jerusalem 1995, Florence 1997;
-Young Investigator Award at the Italian Society Study on Hemostasis & Thrombosis (SISET): Bergamo 1996, Napoli 1998;
-Prized at European Thrombosis Research Organization - Euroconference (ETRO) Award: Paris 1994;
-1st Prize UNI-Festival of Research (UNIFE): 2011, University of Ferrara;
-1st Prize Departmental Research Program (UNIFE): 2015, University of Ferrara;
-1st DNA-AWARD (ONB - EXPO Milan): 2015, Milan, Italy;
-Best Paper Award & Medical Practise; by the American Academy of Continuing Medical Education (AACME): Tanta University (Egypt), 2019.
PATENTS
1. NOVEL PROGNOSTIC BIOMARKER IN ACUTE MYOCARDIAL INFARCTION
Publication info: US2015004625 (A1) 2015-01-01
2. GENE POLYMORPHISMS IN MULTIPLE SCLEROSIS
Publication info: WO2012123785 (A1) 2012-09-20
3. GENETIC MARKERS OF WOUND DEVELOPMENT
Publication info: WO2009125296 (A2) 2009-10-15
4. GENETIC MARKERS OF WOUND DEVELOPMENT
Publication info: WO2009125295 (A2) 2009-10-15
5. GENETIC MARKERS OF WOUND DEVELOPMENT
GB2459099(A) ― 2009-10-14
6. GENETIC MARKERS OF WOUND DEVELOPMENT
GB2459098(A) ― 2009-10-14
COOPERATIVE STUDY GROUPS and/or ACTIVE MEMBER
-Italian Society of Haemostasis & Thrombosis (SISET)
-International Society of Thrombosis & Haemostasis (ISTH)
-Scientific Committee of Orphanet-Italy in Onco-Hematology (CSS-Mendel Institute, Rome)
-Collaborative Study on MTHFR & Coronary Artery Disease', Wageningen University, (NL)
-Commutability Study of Factor II G20210A (CRM) [Institute for Reference Materials and Measurements, European Commission, Geel, Belgium]
-European Network Project on Inherited Bleeding Disorders, (Regione Emila Romagna, Italy)
-Genetic Susceptibility to Environmental Carcinogens - IARC Unit of Environmental Cancer Epidemiology, Lyon, France & NCI Epidemiology & Biostatistics Program, North Bethesda, USA
-Acute Lymphoblastic Leukemia Study Consortium Group, -I.C.R. London-The Institute of Cancer Research, Royal Cancer Hospital, London, (UK)
-Pooled-analysis on the effect of MTHFR C677T polymorphism on the risk of Venous Thromboembolism, Faculty of Medicine, Università Cattolica Sacro Cuore, Rome, Italy
-Ministry of High Education and Scientific Research of Egypt (Channel Mission System/Scholarship Administration, Active cooperation between Tanta University and Ctr. Hemostasis & Thrombosis, University of Ferrara, Italy).
International Reviewer for Research Projects
-2005. Peer Reviewer for Scientific Projects of the Ministry of Science & Environmental Protection of the Republic of Serbia. Title of the proposal: The influence of genetic variability of the folate pathway on the diseases susceptibility and modulation of therapeutic response. Project number: 145075.
-2006. Peer Reviewer for Scientific Projects of the Hungarian Scientific Research_Fund_OTKA.
Title of the proposal: Blood Coagulation Factor XIII. OTKA ID number: 69238.
-2016. Peer Reviewer for Scientific Projects of the French National Research Agency – Translational Research - National Call. Title of the proposal: A new Biomarker for Thrombosis ThERapies; Acronyme du projet: BeTTer.
-2017. Peer Reviewer for Scientific Projects of the Government Agency of National Science Center, Poland. Title of the proposal revised Project: Pharmacogenetics of tiopurine drugs in patients with inflammatory bowel disease - application of the newest methods of DNA sequencing for the deepened analysis of the genetic factors involved in the response to treatment. Project number: No. 338177.
-2017. Peer Reviewer for Scientific Projects of the Scleroderma & Raynaud’s UK projects 2016, United Kingdom. Title of the proposal revised Project: Modulation of systemic sclerosis pathobiology by purified Factor XIII. Project number/acronym: SRUK_2016.
-2018. Peer Reviewer for Scientific Projects of the French National Research Agency – Translational Research - National (Call 2017-2018).
-2021. Peer Reviewer for Scientific Projects of the Irish Research Council (IRC) Laureate Awards 2021 Programme. Title: Sex and Gender Epidemiology of CardioVascular Disease (SAGE-CVD), ID code: IRCLA/2022/2473.
-2022. Peer Reviewer for Scientific Projects of the European Research Council (ERC) For Action - ERC-2022-STG; Title: Physiology in Health Disease and Ageing: Project number ERC-2022-STG
EDITORIAL BOARD MEMBER for international journals (JCR)
-Genes, Editor in Chief for the Section Human Genomics and Genetic Diseases
-International Journal of Molecular Sciences, (Section of Molecular Genetics and Genomics)
-Veins & Lymphatics, (Section of Wound Healing)
DONATO GEMMATI
Full Professor in Clinical Biochemistry & Molecular Biology, [05E3/BIO12]
University of Ferrara, Ferrara, Italy
EDUCATION / PROFESSIONAL OVERVIEW
-12 Jan 1963, born in Rome, Italy
-1987: Degree in Biology, University of Ferrara, Italy
-1988: Fellow and Lecturer at Hemostasis & Thrombosis Centre, Ferrara University, Italy
-1991: Fellow and Lecturer at Human Genome Pathology Centre, Ferrara University, Italy
-2001: Researcher at Hematology Unit, University of Ferrara, Italy
-2004: Board member of the Molecular Medicine PhD Course, University of Ferrara
-2006: Specialized in Medical Genetics, University of Ferrara, Italy
-2009: Director of the Interdepartmental Research Center of Haemostasis & Thrombosis, Department of Biomedical Sciences, University of Ferrara, Italy
-2010: PhD in Biomedical Sciences, University of Ferrara, Italy
-2013: Scientific Board Member for Umbilical Cord Stem Cells in Sorgente Group s.r.l. (Milan, Italy
-2016: Associate Professor in Medical Genetics, University of Ferrara, Italy
-2017: Directive Board on the Strategic Centre of Gender Medicine ; UniFe, Italy
-2018: Lecturer on Immunology & immunoheamatology for the international PhD Public Health program (Telavi State University (TeSaU), Georgia.
-2021: Full Professor of Clinical Biochemistry & Molecular Biology, University of Ferrara, Italy
-Member of the Italian Society of Human Genetics (SIGU)
-Member of the Italian Society of Haemostasis & Thrombosis (SISET)
-Member of the Association of the Italian Centers of Haemophilia (A.I.C.E.)
AREA OF INTEREST
Monogenic and polygenic diseases including: Genetics of blood coagulation disorders, genetics of Hemophilias, inherited thrombophilia, molecular basis of hematological malignancies, Pharmacogenetics, molecular basis of cardiovascular diseases, Wound-healing, Myocardial infarction, genetics and molecular basis of Bio-scaffold and Heart remodeling. Epigenomics and Epidrugs.
RESEARCH FIELDS
The research and the clinical activity is mainly aimed to medical genetics, and in this area it deals with the study of hematology (oncology and non-oncology hematology), the major monogenic coagulopathies [i.e. hemophilia (A and B)] and those with mixed genetic component (polygenic and multifactorial) of inherited thrombophilia and cardiovascular diseases.
Genetic counseling is mainly carried out for the determination of the status of carrier and for the prenatal diagnosis in the presence of coagulopathies (monogenic X-linked and autosomic such as von Willebrand disease and congenital defects of other coagulation factors).
The genetic counseling is carried out also for the choice of the relevant genetic testing for determination and interpretation of molecular screening in inherited thrombophilia as well as within the network of the Technical Committee for the Genetics of Hemophilia (AICE).
Hematological malignancies are investigated by approaching molecular analyses in the main candidate genes (e.g. JAK2, NPM1, CALR1, FLT3) in the Labs of the Dipartimental Centre of Molecular Biology (CDBM) AzOspFe, Ferrara, Italy.
Particular interest is directed towards pharmacogenetics in terms of therapeutic efficacy, survival, and toxicity evaluation, and monitoring of minimal residual disease in onco-hematology.
Folate pathway gene variants have been widely investigated in the filed of acute leukemia and lymphoma and inherited thrombophilia.
Degenerative diseases are investigated with the aim of recognizing candidate genes and molecular markers implicated in oxidative-stress, iron homeostasis and tissue regeneration. The design and creation of DNA-arrays for both research and diagnostic purposes is performed in several pathological settings after selection of candidate genes for disease risk susceptibility evaluation.
Diagnostic and clinical investigations are conducted in both individual and family studies, as well in population case-control studies. Epigenomics of complex diseases and investigation of the molecular mechanisms of aging in Reproductive Medicine; Neurodevolpment; Neurodegenerative Diseases. Telomere attrition, methylation, and ncRNAs are investigated as predictors of longevity and indicators of gap between chronological versus biological age.
The interpretation of genetic data and of the variability of complex phenotypes is analyzed and compared with data collected in genetic counseling in conjunction with the specific team of the clinical pathology in study with the aim of a translational genetics approach to the disease.
GRANTS AND RESEARCH PROJECTS
-1997: Ricerca Biomedica Az. Ospedaliera di Ferrara “Difetti congenito-ereditari, combinati e non di malattie tromboemboliche in associazione con fattori di rischio acquisiti”. (36 months, Role: principal collaborator, Coordinator Dr. F. Mascoli, University-Hospital of Ferrara, Italy)
-1997: C.N.R. “Stati Trombofilici Primari congeniti e acquisiti. Nuovi fattori patogenetici: la resistenza alla Proteina C Attivata”. (24 months, Role: principal collaborator, Coordinator Prof. S. Coccheri, University of Bologna, Italy)
-2001: Telethon, ”Factor IX mutation type in the cohort of the Haemophilia B Italian patients”. (24 months, national study, Coordinator Dr G. Tagariello, Castelfranco Veneto Hospital, Treviso, Italy)
-2002-2017: FAR di Ateneo, local University research (Principal investigator)
-2004-2005: PRIN-prot. 2004060322_005; "Role of coagulation factor XIII in the pathogenesis of chronic venous ulcers (CVU): epidemiological and in vitro studies". (24 mesi afferente all'unità di ricerca, Coordinatore Prof. A. Liboni, University of Ferrara)
-2007-2009: Italian Association Against Leukemia & Lymphoma (AIL). Acute lymphoblastic leukemia and lymphoma in adult: pharmacogenetics, toxicity and patients survival
-2009-2010: PRIN-prot. 2009NZAZSJ_001; "Impact of common genetic polymorphisms in the efficacy of combined ocular treatments in Caucasian patients with choroidal neovascularization secondary to age-related macular degeneration". (24 months, Local research unit, Coordinator Prof. A. Sebastiani, University of Ferrara)
-2011-2013: (ALT, Association Against Thrombosis & Cardiovascular diseases): "FXIII levels in myocardial infarction: A novel prognostic biomarker? From Pharmacogenetics to tailored therapeutic approaches”. (36 month; Project coordinator and PI)
-2011-2013: European TEMPUS PROJECT, JPCR-544282 DECERPH “The Development of a Curriculum and Establishment of a Regional Training Platform for Haematology in Life Sciences and Medicine” (36 months, Local Team Leader
-2016-2017: European TEMPUS PROJECT, JPCR-544282 DECERPH (Local Team Coordinator
-2020-2021: Emilia-Romagna Region: High Skills for Research, Technology Transfer and Entrepreneurship. "Integrated design of multifunctional 3D-bioscaffolds for the development of personalized therapies based on heart "self-repair" after acute myocardial infarction: an innovative vision of regenerative medicine". (Gemmati Donato: 1 year, Project coordinator)
-2021-2023: Emilia-Romagna Region: High Skills for Research, Technology Transfer and Entrepreneurship. “Artificial intelligence techniques to study health status, epidemiology and exposure risk for the identification of individual genetic risk factors in Covid-19 and in vaccines response”. (Gemmati Donato: 3 years, Project coordinator)
-2022-2024: PNRR-MAD-2022-12376475 M6/C2_CALL 2022 Ministero della Salute: Effect of infections and Global DNA Methylation on Frailty Trajectories in Hospitalized Older Patients: A multicenter observational study, (Co-PI).
-2024-2027: Banca d'Italia -F73C24000740003. A multiOMICS approach for targeting the molecolar signature of Autism Spectrum Disorder.
DIRECTION of RESEARCH PROJECTS (NATIONAL and INTERNATIONAL)
-"Gene-gene and gene-environment interactions in childhood ALL: CDKN2A gene and maternal folate SNPs" in collaborazione con Oncoematologia Pediatrica del Policlinico di Bari (UNIBA); Ginecologia ed Ostetricia dell'Università di Ferrara (UNIFE); il Pediatric Department of Hematology and Oncology Unit - Tanta University (Egypt).
-"Molecular marker identification by extreme phenotype sampling in childhood acute lymphoblastic leukaemia: Next Generation Sequencing (NGS) approach in mother-child dyad" in collaborazione con Oncoematologia Pediatrica del Policlinico di Bari (UNIBA); Armenian Haematology Center, Department of Hematology, Yerevan State Medical University (Armenia).
-"Acute myocardial infarction and left ventricular remodelling in human and animal models: a proposed therapeutic strategy to repair the failing heart by enhancing endogenous stem cells recruitment and optimizing the secretome of the local fibrin bio-patch at the injury site". in collaborazione con Cardiovascular Section, Medical Sciences Department, Azienda Ospedaliera-Universitaria S.Anna, Ferrara, Italy; Laboratory for Technologies of Advanced Therapies (LTTA), University of Ferrara, Ferrara, Italy.
-"Organoids and minibrain". Fondation pour Recherches Médicales; 1205 Genève, Switzerland.
MULTICENTRES STUDIES (NATIONAL and INTERNATIONAL)
[1]. 1999-2002 – Genetics Study on Coronary Heart Disease Susceptibility. Division of Human Nutrition and Epidemiology, Wageningen University, MTHFR Studies Collaboration Group; (MTHFR 677C→T Polymorphism and Risk of Coronary Heart Disease). JAMA. 2002;288(16):2023-31. doi: 10.1001/jama.288.16.2023
[2]. 2003-2004 – Genetic Standard Research in Inherited Thrombophilia. Institute for Reference Materials and Measurements, European Commission, Joint Research Centre, Geel, Belgium; (Reference Materials (RMs) for analysis of the Human Factor II (Prothrombin) Gene G20210A mutation). Clin Chem Lab Med. 2005;43(8):862-8. doi: 10.1515/CCLM.2005.145
[3]. 2009-2011 – Inherited Genetic Susceptibility in Pediatric Cancer. Section of Cancer Genetics, Molecular Genetics Centre, Institute of Cancer Research, Sutton, Surrey, UK; (Rationale for an International Consortium to study inherited genetic susceptibility to Childhood Acute Lymphoblastic Leukemia). Haematologica. 2011;96(7):1049-54. doi: 10.3324/haematol.2011.040121
[4]. 2010-2012 - Genetics Study on Coronary Heart Disease Susceptibility. Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), University of Oxford, Oxford, United Kingdom; MTHFR Studies Collaborative Group; (Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias). PLoS Med. 2012; 9(2): e1001177. doi: 10.1371/journal.pmed.1001177
[5]. 2010-2013 – Gene-Gene and Gene-Environment Interactions in Inherited Thrombophilia Susceptibility. Institute of Public Health - Section of Hygiene, Department of Public Health, Università Cattolica del Sacro Cuore, Roma Italy; (Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls). Eur J Epidemiol. 2013; 28(8):621–647. doi: 10.1007/s10654-013-9825-8
[6]. 2012-2014 - Pharmacogenetics Study in Cancer Treatment (multigene approach). Department of Pediatric Hematology-Oncology, and Department of Human Genetics Radboud University Medical Centre, Nijmegen, The Netherlands; (The role of the MTHFR 677C>T polymorphism in Methotrexate-induced liver toxicity: a meta-analysis in patients with cancer). Pharmacogenomics J. 2014;14(2):115-9. doi: 10.1038/tpj.2013.19
[7]. 2015-2017 – Gene-Burden Allele Assessment in JAK2 Gene. Department of Experimental, Diagnostic and Specialty Medicine, Institute of Hematology L. and A. Seràgnoli, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy; (Assessment of the interlaboratory variability and robustness of JAK2-V617F mutation assays: A study involving a Consortium of 19 Italian laboratories). Oncotarget. 2017 16;8(20):32608-32617. doi: 10.18632/oncotarget.15940
[8]. 2019-2020 – International Pharmacogenetics Guidelines: “STrengthening the Reporting of Pharmacogenetic Studies: Development of the STROPS guideline”. PLoS Med 17 (9), e1003344. doi: 10.1371/journal.pmed.1003344
[9]. 2018-2021 – Pharmacogenetics Study in Cancer Treatment. Division of Pharmacoepidemiology & Clinical Pharmacology, Utrecht University, and British Columbia Children's Hospital, Vancouver, Canada: (Genetic variants associated with methotrexate-induced mucositis in cancer treatment: a systematic review and meta-analysis - PROSPERO registration ID: CRD42018092843). Crit Rev Oncol Hematol. 2021;161:103312. doi: 10.1016/j.critrevonc.2021.103312
[10]. 2018-2021 – National Multicentre study F9 Genotype and PK Hemophilia B Italian Study (GePKHIS): "F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes". J Thromb Haemost. 2022;20:69-81. doi: 10.1111/jth.15552
PRIZES AND AWARDS
-Young investigator Award at the International Society on Thrombosis & Haemostasis (ISTH): Amsterdam 1991, New York 1993, Jerusalem 1995, Florence 1997;
-Young Investigator Award at the Italian Society Study on Hemostasis & Thrombosis (SISET): Bergamo 1996, Napoli 1998;
-Prized at European Thrombosis Research Organization - Euroconference (ETRO) Award: Paris 1994;
-1st Prize UNI-Festival of Research (UNIFE): 2011, University of Ferrara;
-1st Prize Departmental Research Program (UNIFE): 2015, University of Ferrara;
-1st DNA-AWARD (ONB - EXPO Milan): 2015, Milan, Italy;
-Best Paper Award & Medical Practise; by the American Academy of Continuing Medical Education (AACME): Tanta University (Egypt), 2019.
PATENTS
1. NOVEL PROGNOSTIC BIOMARKER IN ACUTE MYOCARDIAL INFARCTION
Publication info: US2015004625 (A1) 2015-01-01
2. GENE POLYMORPHISMS IN MULTIPLE SCLEROSIS
Publication info: WO2012123785 (A1) 2012-09-20
3. GENETIC MARKERS OF WOUND DEVELOPMENT
Publication info: WO2009125296 (A2) 2009-10-15
4. GENETIC MARKERS OF WOUND DEVELOPMENT
Publication info: WO2009125295 (A2) 2009-10-15
5. GENETIC MARKERS OF WOUND DEVELOPMENT
GB2459099(A) ― 2009-10-14
6. GENETIC MARKERS OF WOUND DEVELOPMENT
GB2459098(A) ― 2009-10-14
COOPERATIVE STUDY GROUPS and/or ACTIVE MEMBER
-Italian Society of Haemostasis & Thrombosis (SISET)
-International Society of Thrombosis & Haemostasis (ISTH)
-Scientific Committee of Orphanet-Italy in Onco-Hematology (CSS-Mendel Institute, Rome)
-Collaborative Study on MTHFR & Coronary Artery Disease', Wageningen University, (NL)
-Commutability Study of Factor II G20210A (CRM) [Institute for Reference Materials and Measurements, European Commission, Geel, Belgium]
-European Network Project on Inherited Bleeding Disorders, (Regione Emila Romagna, Italy)
-Genetic Susceptibility to Environmental Carcinogens - IARC Unit of Environmental Cancer Epidemiology, Lyon, France & NCI Epidemiology & Biostatistics Program, North Bethesda, USA
-Acute Lymphoblastic Leukemia Study Consortium Group, -I.C.R. London-The Institute of Cancer Research, Royal Cancer Hospital, London, (UK)
-Pooled-analysis on the effect of MTHFR C677T polymorphism on the risk of Venous Thromboembolism, Faculty of Medicine, Università Cattolica Sacro Cuore, Rome, Italy
-Ministry of High Education and Scientific Research of Egypt (Channel Mission System/Scholarship Administration, Active cooperation between Tanta University and Ctr. Hemostasis & Thrombosis, University of Ferrara, Italy).
International Reviewer for Research Projects
-2005. Peer Reviewer for Scientific Projects of the Ministry of Science & Environmental Protection of the Republic of Serbia. Title of the proposal: The influence of genetic variability of the folate pathway on the diseases susceptibility and modulation of therapeutic response. Project number: 145075.
-2006. Peer Reviewer for Scientific Projects of the Hungarian Scientific Research_Fund_OTKA.
Title of the proposal: Blood Coagulation Factor XIII. OTKA ID number: 69238.
-2016. Peer Reviewer for Scientific Projects of the French National Research Agency – Translational Research - National Call. Title of the proposal: A new Biomarker for Thrombosis ThERapies; Acronyme du projet: BeTTer.
-2017. Peer Reviewer for Scientific Projects of the Government Agency of National Science Center, Poland. Title of the proposal revised Project: Pharmacogenetics of tiopurine drugs in patients with inflammatory bowel disease - application of the newest methods of DNA sequencing for the deepened analysis of the genetic factors involved in the response to treatment. Project number: No. 338177.
-2017. Peer Reviewer for Scientific Projects of the Scleroderma & Raynaud’s UK projects 2016, United Kingdom. Title of the proposal revised Project: Modulation of systemic sclerosis pathobiology by purified Factor XIII. Project number/acronym: SRUK_2016.
-2018. Peer Reviewer for Scientific Projects of the French National Research Agency – Translational Research - National (Call 2017-2018).
-2021. Peer Reviewer for Scientific Projects of the Irish Research Council (IRC) Laureate Awards 2021 Programme. Title: Sex and Gender Epidemiology of CardioVascular Disease (SAGE-CVD), ID code: IRCLA/2022/2473.
-2022. Peer Reviewer for Scientific Projects of the European Research Council (ERC) For Action - ERC-2022-STG; Title: Physiology in Health Disease and Ageing: Project number ERC-2022-STG
EDITORIAL BOARD MEMBER for international journals (JCR)
-Genes, Editor in Chief for the Section Human Genomics and Genetic Diseases
-International Journal of Molecular Sciences, (Section of Molecular Genetics and Genomics)
-Veins & Lymphatics, (Section of Wound Healing)
