Phd in NETWORK ONCOLOGY AND PRECISION MEDICINE

email: sabrina.prudente@uniroma1.it
phone:

EDUCATION
1993: Master’s Degree in Biological Sciences, Sapienza University of Rome
1997: Specialty in Clinical Pathology (with honors), Sapienza University of Rome
1998: National License to Practice as Biologist
2002: PhD in Experimental Medicine, Sapienza University of Rome
2006: Master in Bioinformatics (with honors), Sapienza University of Rome
2018: National Scientific Qualification to Associate Professor -Academic Field 06/A2 (General and Clinical Pathology)
2018: National Scientific Qualification to Full Professor -Academic Field 06/A1 (Medical Genetics)
2018: National Scientific Qualification to Associate Professor -Academic Field 05/E3 (Clinical Biochemistry and Clinical Molecular Biology)
2018: National Scientific Qualification to Associate Professor -Academic Field 06/D2 (Endocrinology, Nephrology and Nutrition and Wellness Sciences)

WORK EXPERIENCE/ POSITIONS HELD
April 2025–present: Senior Biologist, Laboratory of Neonatal Screening, Diagnostic Confirmation and Genetic-Metabolic Diseases, Clinical Pathology Unit, University Hospital Policlinico Umberto I, Rome.
October 2024–present: Associate Professor of Clinical Pathology, Department of Experimental Medicine, Sapienza University of Rome.
2021–2024: Senior Investigator, Head of the Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome.
2008–2021: Senior Investigator, Coordinator of the Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome
2002–2007: Senior Researcher, Coordinator of the Research Unit of Diabetes Mellitus (Head: Prof. Vincenzo Trischitta), IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome
1998–2001: PhD student, Special Service for Genetic-Metabolic Diseases (Head: Prof. Italo Antonozzi), Department of Experimental Medicine and Pathology, Sapienza University of Rome
1996: Postgraduate trainee, Clinical Laboratory, CTO Hospital (Supervisor: Dr. Vera Miele), Rome
1996: Postgraduate trainee, Molecular Biology Laboratory (Supervisor: Prof. Giandomenico Russo), Raggio Italgene, Pomezia
1996: Postgraduate trainee, Molecular Biology Laboratory, Institute of Microbiology, University of Ferrara (Supervisor: Prof. Massimo Negrini)
1994–1997: Resident, Laboratory of Molecular Biology and Cytogenetics, Special Service for Genetic-Metabolic Diseases (Head: Prof.ssa Luciana Chessa), Department of Experimental Medicine and Pathology, Sapienza University of Rome
1992–1993: Undergraduate student, Laboratory of Molecular Biology and Cytogenetics, Special Service for Genetic-Metabolic Diseases (Head: Prof.ssa Luciana Chessa), Department of Experimental Medicine and Pathology, Sapienza University of Rome

RESEARCH ACTIVITIES
-Elucidation of the molecular bases of insulin resistance underlying complex, multifactorial metabolic conditions such as type 2 diabetes mellitus (T2DM) and its cardio- and nephro-vascular complications, and obesity.
-Molecular identification and functional characterization of specific gene variants that increase the risk of T2DM, complications and mortality in carriers, by modulating the activity and regulation of genes involved in insulin signaling and action along the insulin receptor axis IR/IRS1/Akt, such as IRS1, ENPP1, SH2B1 and TRIB3.
-Epidemiological and molecular studies aimed at exploring and clarifying the pathophysiological link between obesity and hyperglycemia through genetic investigations and functional characterization of polymorphisms in specific genes such as ENPP1, PPARγ, AQP7 and SH2B1, which are involved in insulin action, body weight regulation, and the cross-talk among insulin-responsive tissues and organs including adipose tissue, liver, pancreas and endothelium.
-Study of familial forms of hyperglycemia, with particular focus on monogenic diabetes subtypes with autosomal dominant inheritance (MODY) presenting in pediatric or adult onset: investigation of etiopathogenesis, identification of novel disease genes, definition of new diagnostic and prognostic markers and exploration of new therapeutic approaches.
-Pharmacogenomics studies.
-Investigation of circulating microRNAs as prognostic markers of mortality and cardio- and nephrovascular complications in patients with T2DM.
-Study of genetic-metabolic diseases, with particular attention to those involved in neonatal screening.

MEMBERSHIP IN SCIENTIFIC SOCIETIES AND NATIONAL/INTERNATIONAL WORKING/ STUDY GROUPS
1998–present: Italian Society of Human Genetics (SIGU)
2005–present: Italian Society of Diabetology (SID)
2005–present: European Association for the Study of Diabetes (EASD)
2005–present: American Diabetes Association (ADA)
2015–present: Pharmacogenomics Working Group (SIGU)
2015–2016: Genetics Working Group (SID)
2016–present: SIGU-Health Working Group (SIGU)
2016–present: EASD Study Group on Genetics of Diabetes
2019–present: ClinGen Monogenic Diabetes Variant Curation Expert Panel (NIH)
2022–present: Italian Society of Pediatric Diabetology and Endocrinology (SIEDP)
2022–present: SID Study Group “Diabetes and Pregnancy”
2022–present: SIEDP Study Group “Diabetes”
2022–present: SIEDP Study Group “Genetic Obesity”

INSTITUTIONAL ROLES HELD IN SCIENTIFIC SOCIETIES AND RESEARCH INSTITUTIONS (NATIONAL AND INTERNATIONAL)
2020–2024: Member of the Executive Board of the Italian Society of Diabetology (SID)
2020–2024: Coordinator/Representative of Study and Working Groups of the Italian Society of Diabetology (SID)
2019–present: Member of the ClinGen “Monogenic Diabetes Expert Panel” (NIH)
2018–2024: Member of the Scientific Committee of the “Center for Studies and Research” of the Italian Society of Diabetology (SID)
2013–2016: Member of the Executive Board of the “Associazione Diabete Ricerca”
2013–present: Member of the Grant Review Committee for SID-FO.DI.RI. research project calls
2012–2016: Member of the Scientific Committee of the Italian Society of Diabetology (SID)
2012–2016: Member of the editorial staff of the SID “Journal Club”

AWARDS AND RECOGNITIONS
2023: Researcher Bonus -Lazio Region
2020: “Asclepiade di Bitinia” Award from the Italian Society of Diabetology (SID)
1997: Scholarship from the ATM Foundation “Davide De Marini”
1997: Best Abstract Award for Young Investigators -AICM

EDITORIAL ACTIVITIES
Peer reviewer for indexed journals including: Diabetologia; Diabetes; Obesity; Nutrition and Diabetes; Journal of Clinical Endocrinology and Metabolism; Journal of Endocrinological Investigation; Internal and Emergency Medicine; Acta Diabetologica; PLoS One; Pediatric Research; Journal of Diabetes and its Complications; International Journal of Genomics; Journal of Pediatric Endocrinology and Metabolism; Il Diabete.
Member of the Editorial Board of the journal Nutrition, Metabolism & Cardiovascular Diseases.

REVIEWING OF RESEARCH PROJECTS FOR NATIONAL AND INTERNATIONAL AGENCIES/INSTITUTIONS
2019–present: Reviewer of international research projects for the European Association for the Study of Diabetes (EASD)
2017–present: Reviewer of international research projects for Institut Pasteur
2016–present: Reviewer of international research projects for the French National Research Agency (ANR)
2015–present: Reviewer of national research projects for the Italian Society of Diabetology (SID)
2013–present: Reviewer of national research projects for the Diabetes Research Foundation (FORISID)

SCIENTIFIC OUTPUT AND BIBLIOMETRIC INDICATORS
- Publications in indexed journals: 83 (Scopus ID: 6506187077)
-Publications in non-indexed journals: 10
-Book chapters: 2
-Contributions to national and international conferences: 115
-Abstracts in indexed journals: 39 (ISI Web of Science)
-Application Notes: 1
-Hirsch (H) index: 27 (Scopus)
-Total citations: 2,451 (Scopus)
-Average citations per publication: 29.45 (Scopus)

The complete list of publications is available on PubMed:
https://pubmed.ncbi.nlm.nih.gov/?term=Prudente+S&sort=date


FUNDED RESEARCH PROJECTS (last 10 years)
2024: SID-AMD Research Funding “DIsentangling heterogeneIty aMong womEN with geStatIONal diAbetes meLlitus in iTalY (DIMENSIONALITY)” -Principal Investigator
2023: PNRR Ministry of Health: “Towards a personalized precision medicine in rare disease: tirzepatide (a dual glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonist) monotherapy in patients with Wolfram syndrome type 1” (PI Prof. Lorenzo Piemonti) -Co-PI
2023: PRIN Ministry of University and Research: “Multi-omics analysis of pancreatic islet cells to unravel and validate new functional loci for beta cell targeted prediction, prevention and treatment of human type 2 diabetes” (PI Prof. Piero Marchetti) -Co-PI
2022: Current Research Program, Ministry of Health: “Genetic and epigenetic studies to disentangle the disease heterogeneity in Italian patients with type 2 diabetes mellitus” -Principal Investigator
2020: PON Ministry of University and Research: “Development of diagnostic biomarkers for precision medicine and personalized therapy” -Collaborator
2019: AIFA Call 2018: “Study protocol for interventional/observational clinical trial Intraclass safety and efficacy comparison among SGLT-2 inhibitors in elderly patients with type 2 diabetes. A pragmatic, phase IV, multicenter, open-label, randomized controlled trial (GliflOzin in eLderly Diabetic patiENts: A praGmatic intraclass Evaluation trial: GOLDEN AGE)” (PI Prof. Angelo Avogaro) -Co-PI
2019: University (Large Projects), Sapienza University of Rome: “MicroRNAs as biomarkers of all-cause mortality and major acute cardiovascular events in patients with type 2 diabetes” (PI Prof. Giuseppe Pugliese) -Co-PI
2018: Current Research Program, Ministry of Health: “Precision medicine in diabetes: role of genetics in dissecting heterogeneity among patients with type 2 diabetes” - Principal Investigator
2017: Research program supported by Eli-Lilly and Fondazione Diabete Ricerca: “Insights into the molecular pathogenesis of early-onset type 2 diabetes in Italy: a pilot study towards precision medicine” -Principal Investigator
2017: University (Medium Projects), Sapienza University of Rome: “Towards precision medicine: insights into the molecular pathogenesis of early-onset type 2 diabetes” (PI Prof. Vincenzo Trischitta) -Co-PI
2016: University (Medium Projects), Sapienza University of Rome: “Clinical and genetic characterization of familial adult-onset diabetes” (PI Prof. Vincenzo Trischitta) -Co-PI
2015: Current Research Program, Ministry of Health: “Identification of disease genes responsible for familial adult-onset diabetes mellitus” -Principal Investigator
2015: Current Research Program, Ministry of Health: “Role of rare genetic variants in susceptibility to cardiovascular disease in patients with type 2 diabetes” -Principal Investigator

PARTICIPATION IN CONSORTIA, NETWORKS AND NATIONAL/INTERNATIONAL CLINICAL STUDIES
2024-present: “DIsentangling heterogeneIty aMong womEN with geStatIONal diAbetes meLlitus in iTalY (DIMENSIONALITY): a multi-centric prospective cohort study to improve the knowledge of gestational diabetes in Italy and the prediction and management of adverse cardiometabolic outcomes in mothers and offspring”
2022-present: “Towards a personalized precision medicine in rare disease: tirzepatide monotherapy in patients with Wolfram syndrome type 1”: multicenter national non-randomized phase 2 interventional study to determine the efficacy of tirzepatide in increasing endogenous insulin production and correcting glycemic lability in patients with Wolfram syndrome 1.
2019-present: “GOLDEN AGE” — GliflOzin in eLderly Diabetic patiENts: A praGmatic intraclass Evaluation trial: pragmatic, phase IV, multicenter, randomized controlled trial comparing intraclass safety and efficacy among SGLT-2 inhibitors in elderly patients with type 2 diabetes.
2015–2018: TRIBBLES Consortium: international consortium studying the role of Tribbles genes in human disease.
2013–2016: MEDIGENE FP7 EU-Network: European network to study genetic and environmental factors and their interaction in the etiopathogenesis of the insulin resistance syndrome in Mediterranean populations.
2013-present: “Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes” (ClinicalTrials.gov Identifier: NCT02311244, (https://www.summerstudyindiabetes.it/), national network for the identification of new molecular promoters of mortality and morbidity in patients with type 2 diabetes.
2011-present: “FDA Study” Further understanding Familial Diabetes of the Adulthood: national multicenter clinical-molecular and functional study for the clinical and genetic characterization of multigenerational forms of diabetes.
2005–2008: ENPP1 Consortium: international consortium to study the role of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 gene (ENPP1) in insulin resistance, obesity and type 2 diabetes.
2004–2015: GENIUS-T2D Consortium: “GENetics of type 2 diabetes in Italy and US”, international consortium to study the genetics of insulin resistance, insulin secretion and type 2 diabetes.

INVITED LECTURES (last 10 years)
July 3 2025: “The Genetics of Gestational Diabetes”, The 19+ One Day on Hyperglycemia in Pregnancy, Rome.
March 21 2025: “Multifactorial Diseases: Diabetes. Approaches for study: theoretical, experimental and practical aspects”, Training Course “Genomics and the New Frontiers of Medicine”, National Federation of the Order of Biologists. CSS-Mendel Institute, Rome.
March 7 2025: “Epigenetic mechanisms: how the nine months in utero can condition the metabolic health of the offspring”, Conference “Pregnancy and Metabolic Alterations: the importance of programming”, Pisa.
October 26 2024: “Monogenic Diabetes: from diagnosis to precision therapy”, 30th National Congress of the Italian Society of Diabetology (SID), Rimini.
July 6 2023: “Pregnancy as a window of vulnerability for the offspring’s metabolic diseases: genetics, epigenetics and technology”, The 16+ One Day on Hyperglycemia in Pregnancy, Rome.
May 22 2023: “Monogenic Diabetes in the Adult”, Panorama Diabete -Multidisciplinary and Multidimensional Forum of the SID, Riccione.
December 14 2022: “Identification of new disease genes for Monogenic Diabetes: state of the art and future perspectives”, Training Course “New Clinical, Molecular and Functional Updates on Some Genetic Diseases”, CSS-Mendel Institute, Rome.
October 8 2022: “Genetics of Diabetes: OGM Diabetes (epigenetics and endocrine disruptors)”, Regional Joint AMD-SID Congress Piemonte-Valle d’Aosta, “PDRR: Diabetes plan for recovery and resilience”, Turin.
November 13 2019: “Capillary electrophoresis, current methods and applications for diagnostics and research”, Training Course “New Technological Innovations in Molecular Genetics: Strategies and Methods in Research and Diagnosis”, CSS-Mendel Institute, Rome.
May 16 2018: “Multigenerational Diabetes”, 27th National Congress of the Italian Society of Diabetology (SID), Rimini.
April 5 2019: “Adult Patient: Case II”, Conference “Monogenic Diabetes in the pediatric and adult patient -2nd Edition”, San Giovanni Rotondo.
November 6 & 13 2018: “Real-time PCR: from theory to practice”, Residential theoretical-practical course, CSS-Mendel Institute, Rome.
March 23 2018: “Adult Patient: between type 2 diabetes and monogenic diabetes”, Conference “Monogenic Diabetes in the pediatric and adult patient”, San Giovanni Rotondo.
November 17 2017: “Gestational diabetes and epigenetics”, Congress “Insulin resistance in the three ages of the woman”, Pisa.
November 23 2017: “Familial adult-onset diabetes -Molecular causes and clinical characteristics”, Conference “Research at Casa Sollievo -Deepening Complex Diseases and Phenotypes”, San Giovanni Rotondo.
June 11 2017: “Expanding the Knowledge on the Spectrum of Familial Diabetes in Adult Patients”, 77th American Diabetes Association Scientific Sessions, San Diego, USA.
May 27 2017: “The big bang of genome editing technology: development and applications of CRISPR/Cas9 technology”, VIII Meeting Stem Cell Research Italy, Chieti.
February 25 2016: “Genetic polymorphisms and response to hypoglycemic drugs”, Seminars in Diabetology, Metabolic Diseases and Nutrition, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples.
May 6 2016: “What is CRISPR/Cas9 technology?”, 26th National Congress of the Italian Society of Diabetology (SID), Rimini.
May 15 2015: “Applications of MEDISCOPE in locus refining and strategic decisions”, Annual MEDIGENE Meeting 2015, Barcelona, Spain.
April 24 2015: “TRIB3 genetic variability, glucose homeostasis and coronary artery disease”, International Workshop: Tribbles pseudokinases: at the crossroad of metabolism, cancer, immunity and development, Budapest, Hungary.
March 20 2015: “Genomic Medicine: A Revolution in Medical Practice in the 21st Century?”, Conference, University of Naples Federico II, Naples.
June 14 2014: “Mutations in the APPL1 gene may contribute to familial diabetes mellitus”, 74th American Diabetes Association Scientific Sessions, San Francisco, USA.