1983 - 1985: Specializzazione in Genetica Medica, Università di Roma "La Sapienza".
1981 - 1987: Attività didattica e di ricerca presso la Facoltà di Farmacia dell’Università degli Studi di Urbino “Carlo Bo”.
1977 - 1981: Laurea in Scienze Biologiche summa cum laude, Università degli Studi di Urbino “Carlo Bo”.
INCARICHI ISTITUZIONALI E MEMBERSHIP
2022 – presente: Membro del Consiglio di Amministrazione dellaFondazione Francesco Balsano
2021 - presente: Membro del Comitato scientifico della Fondazione Aldo Torsoli
2021 - presente: Membro del Comitato scientifico dell’Osservatorio Malattie Rare
2020 - presente: Esperto per la European Medicines Agency – Malta.
2019 - presente: Presidente Fondazione G. Lorenzini
2019 - presente: Membro del Comitato scientifico della Federazione Medico Sportiva Italiana (FMSI)
2016 - presente: Membro del Comitato Nazionale per la Biosicurezza, le Biotecnologie e le Scienze della Vita – CNBBSV, e Coordinatore del Sottogruppo di Genetica del CNBBSV, Presidenza del Consiglio dei Ministri.
2012 - presente: Consulente per la Genetica del Centro di Ricerca “IRCCS Neuromed”, Pozzilli (IS).
2016 - 2019: Presidente dell’Osservatorio Nazionale per le Professioni Sanitarie, MIUR.
2016 - 2019: Esperto per la European Medicines Agency – EMA, Londra.
2018 Delegato dellaConferenza dei Rettori Italiani – CRUI per i temi attinenti alla sanità universitaria.
2013 - 2018: Componente delConsiglio Superiore di Sanità, Ministero della Salute.
2016 - 2018: Presidente della Commissione Genetica Medica 06/A1 per l'Abilitazione Scientifica Nazionale, MIUR.
2009 - 2018: Presidente del Collegio dei Professori Ordinari di Genetica Med/03
2016 - 2017: Componente del Genome Project National Committee, Ministero della Salute.
2014 - 2017: Vicepresidentedella Conferenza dei Rettori Italiani – CRUI.
2002 - 2016: Componente del Comitato etico del Policlinico Tor Vergata – PTV.
2008 - 2015: Componente del Pharmacogenomics Working Party (PgWP) presso la European Medicines Agency - EMA, Londra.
2011 - 2013: Componente del Consiglio Direttivo dell’Agenzia Nazionale di Valutazione del Sistema Universitario e della Ricerca – ANVUR.
2010 - 2013: Componente dell’European Science Foundation (ESF)
2008 - 2011: Preside della Facoltà di Medicina e Chirurgia dell’Università di Roma “Tor Vergata”.
1998 - 2000: Componente del Comitato di Ricerca dell’Università degli Studi di Roma “Tor Vergata”.
1999 - 2000: Componente del Comitato Scientifico del Consiglio Nazionale delle Ricerche – CNR.
2006 - 2007: Componente del Gruppo di Lavoro su “Expert of Advanced Therapies”, Agenzia Italiana del Farmaco (AIFA).
2006: Componente del Comitato Malattie Rare e Delegato per la Regione Lazio, Ministero della Salute.
2000: Componente della Commissione di Studio sull’Utilizzazione delle Cellule Staminali, Dipartimento della Programmazione del Ministero della Sanità.
1998 - 2000: Componente del Comitato per la Ricerca, Università degli Studi di Roma “Tor Vergata”.
1999 - 2000: Componente del Comitato Scientifico del CNR (area “Tor Vergata”).
1998 - 1999: Componente del Gruppo di lavoro sulla clonazione, Presidenza del Consiglio dei Ministri.
1996 - 1998: Componente del Comitato Etico della Scuola di Medicina dell’Università degli Studi di Roma “Tor Vergata”.
1992 - 1995: Consulente della Polizia Scientifica, Ministero dell’Interno.
ALTRI INCARICHI
È esperto esterno presso l’Agencie d’évaluation de la recherche et de l’enseignement supérieur (AERES), in Francia; è stato componente della Commissione Nazionale Post-Genoma del Ministero dell'Università e della Ricerca Scientifica e Tecnologica (MURST); è stato rappresentante per l'Italia presso l'OECD (Organisation for Economic Co-Operation and Development) per i test genetici; è stato componente del "Groupe d'experts en Genetique moleculaire", presso il Ministère de la Santé, de la Famille et des Personnes Handicapées, in Francia; è revisore per of the National Research Agency (ANR), Francia, dal 2009. È membro del “Comitato dei Garanti” della Fondazione Biagio Agnes. È stato advisor per lo spin-off Onconetics (USA).
ESPERIENZA ACCADEMICA E DI RICERCA
2019 - presente: Presidente della Fondazione Giovanni Lorenzini, Milano
2019 - presente: Esperto Valutatore per laMaltese Medicine Authority
2001 - presente: Direttore della U.O.C. Laboratorio di Genetica Medica del Policlinico di Tor Vergata.
1999 - presente: Ordinario di Genetica Medica della Facoltà di Medicina e Chirurgia dell’Università degli Studi di Roma “Tor Vergata”.
2016 - presente: Adjunct Professor della University of Nevada, School of Medicine di Reno, USA.
2003 – 2019: Adjunct Professor della University of Arkansas for Medical Sciences, Little Rock, USA.
2020 – 2021 Diploma di Formazione manageriale per Dirigenti di Aziende Sanitarie, Executive programme, Università LUISS di Roma.
2013 - 2019: Presidente Fondazione Policlinico Tor Vergata Foundation
2011 - 2015: Direttore Scientifico del Centro di Ricerca Fatebenefratelli dell’Ospedale San Pietro di Roma.
1998 - 2011: Direttore della Scuola di Specializzazione in Genetica Medica, Università degli Studi di Roma “Tor Vergata”.
1996 - 1997: Visiting Professor “MiniSabbatical” presso la University of Southern California (USC), Los Angeles, USA.
1995 - 1999: Professore Associato di Genetica Umana presso l’Università degli Studi di Roma “Tor Vergata”.
1992 - 1995: Professore Associato di Genetica Molecolare presso la Facoltà di Medicina e Chirurgia dell’Università Cattolica di Milano, sede di Roma – Policlinico Gemelli.
1990: Associato del Groupe de Génétique Moléculaire INSERM U.91, Créteil, Francia.
1983 - 1992: Ricercatore di Genetica Molecolare presso l’Università di Urbino “Carlo Bo”.
1983 - 1984: Visiting Researcher presso l’Unité de Recherches de Biologie Prénatale INSERM U.73, Francia.
RICONOSCIMENTI
2018: SIMI Medal, Società Italiana di Medicina Interna
2017: Ordine al merito della Repubblica italiana
2017: Premio Nazionale Medicina, Pescara
2016: Premio Rocco Docimo, Cosenza
2015: Premio Gaetano Conte per Disordini Neuromuscolari
2014: Premio Benemerenza Scilla Cuore
2015: Premio Alvaro per Scienza e Cultura
2011: Premio Scanno per la Medicina (XXXIX edizione)
2011: Premio Nazionale Gentile di Fabriano per la Scienza e l'Innovazione, XV Edizione
2009: Premio Internazionale La Calabria nel Mondo
2009: Premio “Vittorio Aprile”, Roma
2004: Premio Pericle D'Oro per la Ricerca Scientifica
2003: Premio “Brutium” scienza
2002: Premio “Ferrari” Società Italiana Genetica Umana (SIGU)
1984: Premio Associazione Italiana Ricerca e Cura Handicap
ATTIVITÀ E AMBITI DI RICERCA SCIENTIFICA
Mappatura, identificazione e clonaggio di nuovi geni nell’uomo
Ha iniziato la sua attività di ricerca nel campo della Biochimica e della Genetica nel 1980.
Il suo interesse principale è stata la mappatura, identificazione e caratterizzazione delle malattie umane di origine genetica (Sindrome di Laron, Fibrosi Cistica, Sindrome di DiGeorge, Displasia Mandibuloacrale, Atassia di Friedrich, Atrofia Muscolare Spinale, Distrofia Miotonica, Psoriasi, Galattosemia, Anemia emolitica ereditaria, Aterosclerosi e infarto del miocardio, neuromiopatia vacuolare, Ipoplasia aplasia della Patella). The Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study(J. Med. Genet.: 34 Issue: 10 Pages: 798-804, 1997) ha fornito la prova scientifica del fatto che i pazienti con delezione della regione 22q11 manifestano uno spettro eterogeneo di sintomi e fenotipi. Questo studio fondamentale, citato più di 398 volte, ha fornito l’evidenza per la prima volta della complessità fenotipica associata a questa sindrome e ha suggerito il coinvolgimento di diversi geni localizzati all’interno della regione cromosomica 22q11.
Nello stesso anno, il prof. Novelli ha focalizzato i suoi studi sulla mappatura genica della regione che gli ha permesso di isolare e caratterizzare un nuovo gene, UFD1L, responsabile del processo di ubiquitinazione, espresso durante lo sviluppo, localizzato all’interno della regione deleta 22q11(Hum Mol Genet., 6, 259-265, 1997). Dopo l’isolamento, il prof. Novelli ha studiato la struttura, l’espressione e la conservazione di questo gene durante l’evoluzione e il suo ruolo patogenetico. Per questi studi (un totale di 24 articoli in peer-review), il prof. Novelli ha scritto due editoriali (Trends Genet. 1999 Jul;15(7):251-4 e Mol. Med. Today, 2000 Jan;6(1):10-1). I risultati ottenuti in questo periodo gli hanno fruttato la partecipazione a un consorzio dell’UE diretto da P. Scambler e favorito la sua collaborazione con ricercatori e genetisti, al fine di caratterizzare i meccanismi molecolari coinvolti nella patogenesi della malattia.
In collaborazione con Dr. Meisterernst M. (Monaco, Germania), il prof. Novelli ha pubblicato in seguito il clonaggio di un nuovo gene, PCQAP (PC2 glutamine/Q-rich-associated protein), che mappa all’interno della regione di delezione e codifica una proteina che costituisce una sottounità del grande complesso multiproteico PC2 (Genomics, 2001 Jun 15;74(3):320-32).
Continuando le ricerche in questo campo ha focalizzato la sua attenzione nello studio degli effetti di regolamentazione dell’aploinsufficienza della regione 22q11 durante lo sviluppo, analizzando il pattern di espressione del gene ortologo MM16 negli embrioni di topo in diversi stadi di sviluppo (Gene. 2007, 391(1‑2):91‑102) e studiandone i meccanismi morfogenetici in un modello murino della malattia. (Cardiovasc Pathol. 2006 Jul-Aug;15(4):194-202). Ulteriori studi hanno portato a dimostrare che la somministrazione periconcezionale di acido folico e metonina sono in grado di influire sull’incidenza di difetti congeniti e possono probabilmente indurre selezione negativa di embrioni che presentano anomalie di sviluppo (Cardiovasc Pathol. 2008 Apr 14).
In una pubblicazione del 2002 (Am J. Hum Genet., Aug;71(2):426-31), Novelli ha dimostrato per la prima volta che la mutazione di un singolo nucleotide nel LMNA gene è responsabile di una Sindrome Progeroide, la Displasia Mandibuloacrale (MAD) e ha suggerito che questa proteina è coinvolta attivamente nell’invecchiamento precoce. Mutazioni nel LMNA gene sono state trovate finora come causative di circa 26 malattie differenti, chiamate “Laminopatie”, tra cui la Distrofia Muscolare, Cardiomiopatie, Distrofia Muscolare, Lipodistrofia, Resistenza all’insulina, Diabete, e invecchiamento Prematuro. Il coinvolgimento in questo campo è documentato finora in 11 articoli peer-review apparsi in prestigiose riviste (i.e. Hum Mol Genet., Exp Cell Res., Aging Cell, J Clin Endocrinol Metab, Physiol Genomics) e ha portato all’istituzione di un Network Europeo sovvenzionato dal finanziamento UE FP6 “Euro-laminopathies” no. 018690 (http://www.projects.mfpl.ac.at/euro-laminopathies/php/index.php).
L’identificazione e la caratterizzazione di un’isoforma di splicing del recettore endoteliale per lipoproteine ossidate (ox-LDLs): LOXIN, codificata dal gene OLR1 ha portato a dimostrare un ruolo protettivo di LOXIN nelle malattie correlate con l’overespressione di LOX-1, come l’arteriosclerosi e i tumori (Rev. In Int J. Mol. Sci.2017).
Terapia genica
In collaborazione con D. Gruenert (San Francisco, USA), il prof. Novelli ha sviluppato una tecnica innovativa di gene targeting basata sull’uso di oligonucleotidi al fine di ripristinare una corretta funzione genica attraverso meccanismi di ricombinazione omologa basata sull’uso di piccoli frammenti di DNA (SFHR: Small Fragment Homologous Replacement). In una serie di articoli pubblicati su Hum Mol Genet., Mol Therapy, Biotechniques, Hum Gene Ther., J. Clin Invest) hanno dimostrato la validità di queste tecniche per correggere cellule umane mutate in vitro e in vivo. Recenti sviluppi e l’uso di nuove strategie hanno portato a dimostrare che SFHR potrebbe essere usato in protocolli di terapia clinica per le malattie genetiche, e di terapia genica cellulare. Questa tecnica rappresenta il prototipo dell’attuale gene-editing approach.
Cellule staminali
Utilizzando analisi immunoistochiamica e FACS è stato possibile isolare e cartterizzare cellule multipotenti derivate dal citotrofoblasto umano (hCTMCs) da prelievi di villo coriale (CVS). Queste cellule rappresentano una fonte sicura e conveniente di cellule per terapia cellulare cosi come un target ideaale in protocolli di terapia genica fetale in utero (Cloning Stem Cells.2009).
Successivamente è stato sviluppato un protocollo originale per il trattamento della Fibrosi Polmonare in un modello murino. Questo studio ha aperto nuove prospettive per l’utilizzo delle cellule AECII derivate da cellule staminali HUES Nella terapia di una malattia polmonare ancora letale e incurabile (Eur Resp J. 2012)
Un modello di cellule staminali tumorali è stato sviluppato da cellula estaminali umane derivate da membrane amniotica e corionica. Queste cellule sono in grado di differenziare in cellule neurali e iniziare una processo spontaneo di trasformazione acquisendo un fenotipo NB-like (Stem Cell Res Ther.2014).
Infine è stato messo a punto un protocollo che permette di riprogrammare cellule staminali umane pluripotenti indotte (hiPSCs) da pazienti affetti da malattie genetiche. Le cellule hiPS rappresentano un strumento importante per la salute dell’uomo, in quanto rappresentano un valido modello in vitro per lo studio delle malattie monogeniche, permettendo di studiare il loro meccanismo patogenetico in protocolli di terapia genica e cellulare (Cell Reprogram. 2015). L’analisi dei composti volatili (VOCs) rilasciati in vitro
Durante la riprogrammazione di tali cellule e durante il loro differenziamneto è stato caratterizzato successivamente (Sci Reports, 2017; Bioprotocols, 2017).
Medicina Personalizzata, Farmacogenetica e Farmacogenomica
La medicina personalizzata permette ai medici di conoscere la costituzione molecolare di ciascun paziente. La conoscenza del profilo genetico specifico del paziente aiuta il medico nel selezionare i pazienti a cui offrire una terapia specifica per le caratteristiche dell’individuo. La medicina personalizzata è un'estensione diretta della medicina genomica che utilizza le informazioni genetiche per prevenire o curare la malattia negli adulti o nei loro figli. In questo campo il prof. Novelli ha sviluppato un protocollo originale e identificato nuovi biomarcatori genomici per l'efficacia dei farmaci e dei loro effetti avversi (Pharmacogenomics 2014,2015, 2016, 2017). Recenti studi sono stati indirizzati alla sindrome di Stevens-Johnson, una necrolisi epidermica tossica associata a farmaci specifici (Plos One 2016, Pharmacogenomics 2017).
Inoltre ha evidenziato come le variazioni genetiche nei geni candidati di microRNA (miRNA o miR) potrebbero contribuire alla suscettibilità a malattie complesse come diabete, lupus e malattia di Chron (Acta Diabetol, 2016, Molec Diagn Ther, 2017).
Analisi del DNA Forense
Il prof. Novelli ha introdotto per la prima volta in Italia l’analisi del DNA ad uso forense (Nature 1991). Insieme al suo gruppo ha sviluppato molti protocolli e piattaforme per l’analisi del DNA sulla scena del crimine.
Contributo alla diffusione della scienza
Giuseppe Novelli è stato coinvolto attivamente nella divulgazione scientifica in Italia a vari livelli, nel campo della Genetica Umana, medica e molecolare, tenenedo conferenze pubbliche su diversi argomenti. Ha regolarmente rilasciato interviste e contribuisce agli organi più autorevoli della stampa italiana come quotidiani, riviste cartacee, online scientifiche o intervenendo a programmi radiofonici e televisivi.
PRINCIPALI PROGETTI DI RICERCA
− 2002-2004: “Genetics and Genomics of Atherosclerosis” MIUR.
− 2002-2004:” Dissecting mendelian phenotypes” MIUR (Fondi FIRB).
− 2002-2004: “Operative network on Neuromuscular Disorders”, Ministero della Salute.
− 2002-2004:” Neurogenetics of neurodegenerative Disorders” Ministero della Salute.
− 2002-2004: “Research of cystic fibrosis phenotype modifier genes” MIUR.
− 2003- 2005: “MAD and laminophaties” Telethon Italia.
− 2005-2007: Pathophysiology and therapeutical approaches in MADA, a rare progeroid syndrome. Rare Disease Project: Conv. N. 526/A13. Istituto Superiore della Sanità.
− 2005-2009: Finanziamento UE FP6 NACBO “Novel and improved nanomaterials, chemistries and apparatus for nanobiotechnology”.
− 2005-2007: AIRC (Associazione Italiana Per La Ricerca Sul Cancro) “Genomics of Human Prostate Cancer”. − 2005-2007: Congentital heart defects: genetics, embryology and clinical apsects. MIUR.
− 2004-2007: Genetics of Cystic Fibrosis. Regione Lazio.
− 2005-2008: Finanziamento UE FP6-2004-LIFESCIHEALTH-5: Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical
− 2006-2008: Biomarkers identification in heart failure. Ministero della Salute.
− 2005-2007: Myotonic dystrophy type 1 and type: from pathogenesis to development of innovative gene therapies (PRIN # 2005064759). MIUR.
− 2006-2007: Development of screening programs for beta-thalassemia prevention in Albania. Ministero degli Esteri.
− 2007-2008: Development of screening programs for cystic fibrosis prevention in Albania. Ministero degli Esteri.
− 2006-2008: Causes, evolution and progression of nasal polyps; role of modifier genes and a new approach through CGH array. Cystic Fibrosis Foundation, Italia.
− 2007-2009: Development of an RNA interference-based system for the molecular cell therapy of myotonic dystrophy. FinanziamentoTelethon.
− 2007-2009: Identification of biomarkers during steorid doping. Ministero della Salute.
− 2007-2009: Study of efficacy of statins in association with biphosphonate in Mandibuoloacral dysplasia and Hutchinson-Gilford Progeria. Agenzia italiana del farmaco (AIFA). Approved.
− 2008-2010: New Gene therapy approach for DM1 and DM2. Association Franciase contre le Myopathies, FM (France). Approved.
− 2009-2012 EU-FP7, BIO-NMD, Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of Neuromuscular Disorders.
− 2010-2012: “Lipid metabolism and cancer: LOX-1 a new potential molecular target in colon cancer therapy”. Fondazione Umberto Veronesi.
− 2016: “Undiagnosed diseases: a joint Italy- USA project”. Ministero degli Esteri.
− 2021: “Synthetic Antibodies neutralize SARS-CoV-2 infection of mammalian cells”. Fondazione Roma.
− 2021: “GeCoBioMark”, POR-FESR Gruppi di Ricerca 2020.
− 2021: “STEMCOmAb”, FISR2020.
− 2022: “UNDINE”, HORIZON-HLTH-2021-DISEASE-04-07
MEMBERSHIP DI SOCIETÀ SCIENTIFICHE
2019: Academia Europaea
2010: Oligonucleotide Therapeutics Society (OTS)
2008: Accademia Medica di Roma
2007: African Society of Human Genetics (AfSHG)
2005: Board Committee,American Society of Gene Therapy (ASGT)
2002 American Society of Gene & Cell Therapy (ASGCT)
1997: Founder Member, Italian Society of Human Genetics (SIGU)
1990: Human Genome Organization (HUGO)
1989: European Society of Human Genetics, Board (ESHG)
1988: American Society of Human Genetics (ASHG)
PARTECIPAZIONE A COMITATI EDITORIALI
2021 - presente: COVID MDPI (Editor in Chief)
2020 - 2021: Genes (Guest Editor “Covid-19 and Molecular Genetics”)
2019 - presente IJMS -International Journal of Molecular Sciences (Editorial Board Member)
2019 - presente Diabetes Monitor Journal (Co-Editor)
2019 - presente Human Genomics (Associate Editor)
2009 - presente: Plos One (Associate Editor)
2001 - presente: Acta Myologica (Associate Editor)
2005 – presente: Frontiers in Pharmacology
2005 – presente: Frontiers in Genetics
2004 - 2019: BMC Medical Genetics
2004 - presente: Encyclopedia of Life Science for Genetics and Molecular Biology
2000 - presente: La Clinica Terapeutica
2002 - presente: Journal of Cardiovascular Medicine
2004 - 2019: Journal Inflammation & Allergy – Drug Targets (IADT)
2010 - 2019: Genetics Research International
2005 - 2008: Journal of Pharmacogenomics & Pharmacoproteomics
1999 - 2013: Clinical Genetics, 1999-2013
1999 - 2003: Neuromuscular Disorders
ATTIVITÀ DI REVIEWER PER RIVISTE SCIENTIFICHE
Acta Myologica, Advances in Pharmacological Sciences; Amer J Med. Genet., Asian J Andrology, Arch. Dermatol., Ann Hum Biol, Expert Review of Anticancer Therapy; Atherosclerosis, BMC Medical Genetics; BBA Gene Structure & Expression, BioTechniques, Clin Genet, Eur J Neurol, Brain, Current Opinion in Cardiology, Eur J Hum Genet, Eur. Heart Journal, Neuromusc Dis, J Endocrinol Invest; Chemistry/Today; Biol Neonat; Am J Med Genet., Genetica, Gene, J. Dermatol. Invest., Circulation, Circulation Res, Cell Death and Differentiation, Development, Am J Hum Genet, Human Genetics, Hum Reproduction, Mechanisms of Ageing and Development, Molecular Medicine Today, Mol Genet Metab, Nature Genetics, Neuromuscular Disorders, Gene, Gene Express, Gene Therapy, Hum Mol Genet., Hum Mutat., Pharmacogenomics, Trends in Genet, Trends in Molecular Medicine, Biological Psychiatry, Thrombosis and Haemostasis, The Journal of Cardiovascular Pharmacology , J. Endocrinol Invest., J. Med. Genet., J. Mol. Medicine, J. Gene Medicine, J. Cardiovasc Pharmacol, Lancet, Gene Therapy, Mole Genet Metab, Mol. Hum. Repr.; J. Mol Endocrinol, Journal of Clinical Endocrinology and Metabolism, Molecular Cytogenetics; Mol. Therapy, PLOS One, PLOS Genetics, Lancet Neurology, Lancet, New England J. Medicine, Int J. Exp. Pathol., Vaccine, Seminar Ophtalmol.
LIBRI PUBBLICATI
Dallapiccola B., Novelli G.: Genetica Medica Essenziale, Ed. Phoenix Phoenix, 1998
Novelli G., Giardina E., Genetica Medica Pratica, Arcane, 2003
Dallapiccola B., Novelli G.: Genetica Medica Essenziale, Ed. Il Minotauro, Collana Phoenix, 2006
Dallapiccola B., Novelli G.: Genetica Medica Essenziale, Ed. CIC Internazionali, 2nd, 2012
Dallapiccola B., Novelli G.: Genetica Medica, Edizioni Scientifiche Falco, 2022
IMPACT
Giuseppe Novelli ha ottenuto quattro brevetti internazionali.
− 2000: N. MI2000A 002041: “Metodo per la determinazione del Gene SMN1” filed on 19/09/2000. Italian. Y: no; LC: no.
− 2004: N. MI2004A000251: “Production of a monoclonal antibody for UBE4A protein and its use in diagnostics”. Italian. Y: yes; LC: 1 (Abcam ltd.).
− 2005: WO /2005/080430 - Anti-ube4a/ufd2b polyclonal antibody and its use thereof as diagnostic and prognostic marker of 11q23 region alterations. International Application No.: PCT/IB2005/000305. Publication Data: 03.04.2006. International Filing Date: 08.02.2005. IPC: C07K16/40, G01N33/68, C07K16/00.
− 2006: WO/2006/137101 - Alternative splicing isoform of LOX-I protein encoding gene, and uses thereof. International Application No.: PCT/IT2006/000470. Publication Date: 28.12.2006. International Filing Date: 20.06.2006. IPC: C12Q 1/68 (2006.01). Y: yes; LC: 1.
Ha principalmente focalizzato la sua attività di ricerca su Genetica Umana, Molecolare e Medica. Ha contribuito all’identificazione di diversi geni nell’uomo. Ha caratterizzato la causa molecolare della Sindrome di Laron, la Displasia Mandibuloacrale, la Psoriasi e l’Artrite Psoriasica. Attualmente studia le basi genetiche delle malttie complesse, la cartterizzazione di linee cellulari di iPS e l’identificazione di nuovi biomarcatori genomici per la farmacogenetica.
Ha istituito un Centro di Eccellenza per lo studio della genomica, delle malattie complesse e multifattoriali presso l’Università degli Studi di Roma "Tor Vergata", finanziati dal MIUR nel 2001.
Ha costituito Bioscience Genomics, spin-off dell’Università “Tor Vergata”.
Ha coordinato diversi progetti di ricerca finanziati dal MIUR, CNR, Ministero della Salute, Telethon, AFM, EU FP5, EU FP6 e EU FP7, Ministero degli Esteri, Fondazione Veronesi, AIRC, AIFA, ISS.
INDICATORI BIBLIOMETRICI
ORCID: 0000-0002-7781-602X
Total number of publications in peer-review journals: 675
Total number of citations: 24215 (Scopus)
H index: 68 (Scopus), 85 (Google Scholar)
PUBBLICAZIONI 2021-2024
1. Bastard, P. et al. Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs. (2023) Science immunology, 8 (90), p. eabp8966.
2. Vancheri, C. et al. Downregulation of Circulating Hsa-miR-200c-3p Correlates with Dyslipidemia in Patients with Stable Coronary Artery Disease. (2023) International Journal of Molecular Sciences, 24 (2), art. no. 1112.
3. Marchionni, E. et al. Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype. (2023) Bone Reports, 19, art. no. 101728.
4. Centofanti, F. et al. Indole-3-carbinol in vitro antiviral activity against SARS-Cov-2 virus and in vivo toxicity. (2022) Cell Death Discovery, 8 (1), art. no. 491.
5. Biancolella, M. et al. COVID-19 annual update: a narrative review. (2023) Human Genomics, 17 (1), art. no. 68.
6. Reichardt, J.K.V. et al. J’Accuse…. Or The Plight of pro-bono Volunteer Scientists in Academic Publishing. (2022) Human Genomics, 16 (1), art. no. 44.
7. Matuozzo, D. et al. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. (2023) Genome Medicine, 15 (1), art. no. 22.
8. Biancolella, M. et al. COVID-19 2022 update: transition of the pandemic to the endemic phase. (2022) Human Genomics, 16 (1), art. no. 19.
9. Li, Y. et al. p63: a crucial player in epithelial stemness regulation. (2023) Oncogene, 42 (46), pp. 3371-3384.
10. Bolze, A. et al. Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis. (2022) Journal of Clinical Immunology, 42 (7), pp. 1354-1359.
11. De Benedittis, G. et al. ATG5 gene expression analysis supports the involvement of autophagy in microangiopathic complications of type 2 diabetes. (2023) Nutrition, Metabolism and Cardiovascular Diseases, 33 (9), pp. 1797-1799.
12. Latini, A. et al. Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors. (2022) Journal of Cellular and Molecular Medicine, 26 (19), pp. 4940-4948.
13. Graziani, L. et al. Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report. (2023) Genes, 14 (8), art. no. 1589.
14. Trivisano, M. et al. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms. (2022) Seizure, 101, pp. 211-217.
15. Murdocca, M. et al. COVID-19: S-Peptide RBD 484–508 Induces IFN-γT-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients. (2023) Viruses, 15 (7), art. no. 1417.
16. Fortugno, P. et al. RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis. (2022) Human Molecular Genetics, 31 (15), pp. 2535-2547.
17. Novelli, G. et al. Genetics: A Starting Point for the Prevention and the Treatment of Obesity. (2023) Nutrients, 15 (12), art. no. 2782.
18. Ferese, R. et al. Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4). (2022) Clinical Genetics, 102 (2), pp. 155-156.
19. Visconti, V.V. et al. In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array. (2023) International Journal of Molecular Sciences, 24 (12), art. no. 10129.
20. Labriola, J.M. et al. Peptide-Antibody Fusions Engineered by Phage Display Exhibit an Ultrapotent and Broad Neutralization of SARS-CoV-2 Variants. (2022) ACS Chemical Biology, 17 (7), pp. 1978-1988.
21. Graziani, L. et al. A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome. (2023) American Journal of Medical Genetics, Part A, 191 (6), pp. 1565-1569.
22. Quatrana, A. et al. Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1. (2022) Human Molecular Genetics, 31 (12), pp. 2010-2022.
23. Latini, A. et al. PCSK3 Overexpression in Sjögren’s Syndrome Patients May Be Regulated by rs4932178 SNP in Its Promoter Region and Correlates with IFN-γGene Expression. (2023) Genes, 14 (5), art. no. 981.
24. Miersch, S. et al. Ultrapotent and broad neutralization of SARS-CoV-2 variants by modular, tetravalent, bi-paratopic antibodies. (2022) Cell Reports, 39 (9), art. no. 110905.
25. Bucciol, G. et al. Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children. (2023) Journal of Allergy and Clinical Immunology, 151 (4), pp. 832-840.
26. Brodin, P. et al. Studying severe long COVID to understand post-infectious disorders beyond COVID-19. (2022) Nature Medicine, 28 (5), pp. 879-882.
27. Murdocca, M. et al. From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging. (2023) Mechanisms of Ageing and Development, 211, art. no. 111790.
28. Novelli, G. et al. COVID-19 and Molecular Genetics. (2022) Genes, 13 (4), art. no. 676.
29. Tangye, S.G. et al. Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity. (2023) Journal of Allergy and Clinical Immunology, 151 (4), pp. 818-831.
30. Spitalieri, P. et al. Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids. (2022) Cells, 11 (7), art. no. 1235.
31. Brandimarte, B. et al. Nebulization of pharmacological solutions with an innovative medical device based on microvaporization. (2023) Heliyon, 9 (3), art. no. e14673.
32. Zhang, Q. et al. Human genetic and immunological determinants of critical COVID-19 pneumonia. (2022) Nature, 603 (7902), pp. 587-598.
33. Lee, D. et al. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. (2023) Science, 379 (6632), art. no. eabo3627.
34. Andreakos, E. et al. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. (2022) Nature Immunology, 23 (2), pp. 159-164.
35. Centofanti, F. et al. Synthetic Methodologies and Therapeutic Potential of Indole-3-Carbinol (I3C) and Its Derivatives. (2023) Pharmaceuticals, 16 (2), art. no. 240.
36. Alfano, M. et al. Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing. (2022) eLife, 11, art. no. e80229.
37. Novelli, G. et al. Organoid factory: The recent role of the human induced pluripotent stem cells (hiPSCs) in precision medicine. (2023) Frontiers in Cell and Developmental Biology, 10, art. no. 1059579.
38. Colona, V.L. et al. Will GWAS eventually allow the identification of genomic biomarkers for COVID-19 severity and mortality?. (2021) Journal of Clinical Investigation, 131 (23), art. no. e155011.
39. Ferese, R. et al. Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations. (2023) Frontiers in Neurology, 14, art. no. 1296924.
40. Biancolella, M. et al. Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso. (2021) Human Genomics, 15 (1), art. no. 65.
41. Matera, M.G. et al. The impact of genomic variants on patient response to inhaled bronchodilators: a comprehensive update. (2023) Expert Opinion on Drug Metabolism and Toxicology, 19 (5), pp. 285-295.
42. Arkin, L.M. et al. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio. (2021) Journal of Investigative Dermatology, 141 (12), pp. 2791-2796.
43. Di Lorenzo, F. et al. DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. (2023) International Journal of Molecular Sciences, 24 (3), art. no. 2490.
44. Murdocca, M. et al. Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients. (2022) Aging, 14 (4), pp. 1651-1664.
45. Petrone, V. et al. Expression profile of HERVs and inflammatory mediators detected in nasal mucosa as a predictive biomarker of COVID-19 severity. (2023) Frontiers in Microbiology, 14, art. no. 1155624.
46. Colona, V.L. et al. Update on human genetic susceptibility to COVID-19: susceptibility to virus and response. (2021) Human Genomics, 15 (1), art. no. 57.
47. Spitalieri, P. et al. Effects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies. (2021) Cellular and Molecular Bioengineering, 14 (6), pp. 613-626.
48. Mbarek, H. et al. Poking COVID-19: Insights on genomic constraints among immune-related genes between Qatari and Italian populations. (2021) Genes, 12 (11), art. no. 1842.
49. Novelli, G. et al. COVID-19 one year into the pandemic: from genetics and genomics to therapy, vaccination, and policy. (2021) Human Genomics, 15 (1), art. no. 27.
50. Visconti, V.V. et al. Epigenetics of myotonic dystrophies: A minireview. (2021) International Journal of Molecular Sciences, 22 (22), art. no. 12594.
51. Ferradini, V. et al. Clinical features of lmna-related cardiomyopathy in 18 patients and characterization of two novel variants. (2021) Journal of Clinical Medicine, 10 (21), art. no. 5075.
52. Murdocca, M. et al. LOX-1 and cancer: an indissoluble liaison. (2021) Cancer Gene Therapy, 28 (10-11), pp. 1088-1098.
53. Vinh, D.C. et al. Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β. (2021) Journal of Clinical Immunology, 41 (7), pp. 1425-1442.
54. Grosso, V. et al. Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture. (2021) Frontiers in Genetics, 12, art. no. 743230.
55. Miersch, S. et al. Tetravalent SARS-CoV-2 Neutralizing Antibodies Show Enhanced Potency and Resistance to Escape Mutations. (2021) Journal of Molecular Biology, 433 (19), art. no. 167177.
56. Caputo, V. et al. Pharmacogenomics: An update on biologics and small-molecule drugs in the treatment of psoriasis. (2021) Genes, 12 (9), art. no. 1398.
57. Ferradini, V. et al. Genetic and epigenetic factors of takotsubo syndrome: A systematic review. (2021) International Journal of Molecular Sciences, 22 (18), art. no. 9875.
58. Asano, T. et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. (2021) Science Immunology, 6 (62), art. no. eabl4348.
59. Bastard, P. et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. (2021) Science Immunology, 6 (62), art. no. eabl4340.
60. Accogli, A. et al. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. (2021) Neurology, 97 (6), pp. E577-E586.
61. Murdocca, M. et al. Urine lox-1 and volatilome as promising tools towards the early detection of renal cancer. (2021) Cancers, 13 (16), art. no. 4213.
62. Murdocca, M. et al. Peptide platform as a powerful tool in the fight against covid-19. (2021) Viruses, 13 (8), art. no. 1667.
63. Mauriello, A. et al. Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia. (2021) Cell Death and Disease, 12 (8), art. no. 762.
64. Ferese, R. et al. Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. (2021) Frontiers in Genetics, 12, art. no. 682050.
65. Novelli, G. Six years as university rector changed how I do genetics. (2021) Nature, 595 (7868), p. 494.
66. Biancolella, M. et al. Genetics and Genomics of Breast Cancer: update and translational perspectives. (2021) Seminars in Cancer Biology, 72, pp. 27-35.
67. Botta, A. et al. A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles. (2021) Frontiers in Genetics, 12, art. no. 668094.
68. Vancheri, C. et al. Two reck splice variants (Long and short) are differentially expressed in patients with stable and unstable coronary artery disease: A pilot study. (2021) Genes, 12 (6), art. no. 939.
69. De Benedittis, G. et al. Emerging role of microRNAs and long non-coding rnas in sjögren’s syndrome. (2021) Genes, 12 (6), art. no. 903.
70. Latini, A. et al. mRNA expression analysis confirms CD44 splicing impairment in systemic lupus erythematosus patients. (2021) Lupus, 30 (7), pp. 1086-1093.
71. Novelli, G. et al. A focus on the spread of the delta variant of SARS-CoV-2 in India. (2021) Indian Journal of Medical Research, 153 (5), pp. 537-541.
72. Sancho-Shimizu, V. et al. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. (2021) Journal of Experimental Medicine, 218 (6), art. no. e20210446.
73. Cecchetti, C. et al. Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C. (2021) Frontiers in Endocrinology, 12, art. no. 675096.
74. Casasco, M. et al. Medical-health recommendations for the Serie A League [Raccomandazioni medico-sanitarie per la Lega Serie A]. (2021) Medicina dello Sport, 74 (1), pp. 1-21.
75. Murdocca, M. et al. Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired Dna repair capacity. (2021) Aging, 13 (4), pp. 4926-4945.
76. Ferradini, V. et al. Variants in mhy7 gene cause arrhythmogenic cardiomyopathy. (2021) Genes, 12 (6), art. no. 793.
77. Latini, A. et al. Altered expression of miR-142, miR-155, miR-499a and of their putative common target MDM2 in systemic lupus erythematosus. (2021) Epigenomics, 13 (1), pp. 5-13.
78. Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. (2021) Cell Death and Disease, 12 (4), art. no. 310.
EDUCATION AND TRAINING
1983 - 1985: Specialization in Medical Genetics, University of Rome "La Sapienza".
1981 - 1987: Teaching and research activity at the Faculty of Pharmacy of the University of Urbino "Carlo Bo".
1977 - 1981:Degree in Biological Sciences summa cum laude, University of Urbino "Carlo Bo".
INSTITUTIONAL ASSIGNMENTS AND MEMBERSHIP2022 - present:Member of the Board of Directors, Balsano Foundation, Rome
2021 - present:Member of the Scientific Committee of the Aldo Torsoli Foundation
2021 - present:Member of the Scientific Committee of the Observatory for Rare Diseases
2020 - present: Expert for the European Medicines Agency – Malta.
2019 - present: President of the Giovanni Lorenzini Foundation Italy
2019 - present:Member of the Scientific Committee of the Italian Sports Medical Federation (FMSI)
2016 - present: Member of the National Committee for Biosafety, Biotechnology and Life Sciences – CNBBSV, and Coordinator of the Genetics Subgroup of the CNBBSV, Presidency of the Council of Ministers.
2012 - present:Consultant for Genetics of the Research Center "IRCCS Neuromed", Pozzilli (IS).
2016 - 2019: President of the National Observatory for Health Professions, MIUR.
2016 - 2019: Expert for the European Medicines Agency – EMA, London.
2018 Delegate of the Conference ofItalian Rectors – CRUI for issues related to university health.
2013 - 2018: Member of the Superior Council of Health, Ministry of Health.
2016 - 2018: President of the Medical Genetics Commission 06/A1 for the National Scientific Qualification, MIUR.
2009 - 2018: President of the Board of Full Professors of Genetics Med/03
2016 - 2017: Member of the Genome Project National Committee, Ministry of Health.
2014 - 2017: Vice President of the Conference of Italian Rectors – CRUI.
2002 - 2016:Member of the Ethics Committee of the Policlinico Tor Vergata – PTV.
2008 - 2015:Member of the Pharmacogenomics Working Party (PgWP) at the European Medicines Agency - EMA, London.
2011 - 2013:Member of the Board of Directors of the National Agency for the Evaluation of the University and Research System – ANVUR.
2010 - 2013: Member of the European Science Foundation (ESF)
2008 - 2011: Dean of the Faculty of Medicine and Surgery of the University of Rome "Tor Vergata".
1998 - 2000:Member of the Research Committee of the University of Rome "Tor Vergata".
1999 - 2000:Member of the Scientific Committee of the National Research Council – CNR.
2006 - 2007:Member of the Working Group on "Expert of Advanced Therapies", Italian Medicines Agency (AIFA).
2006: Member of the Rare Diseases Committee and Delegate for the Lazio Region, Ministry of Health.
2000: Member of the Study Commission on the Use of Stem Cells, Department of Planning of the Ministry of Health.
1998 - 2000:Member of the Research Committee, University of Rome "Tor Vergata".
1999 - 2000:Member of the Scientific Committee of the CNR ("Tor Vergata" area).
1998 - 1999: of the Working Group on Cloning, Presidency of the Council of Ministers.
1996 - 1998:Member of the Ethics Committee of the School of Medicine of the University of Rome "Tor Vergata".
1992 - 1995:Consultant of the Scientific Police, Ministry of the Interior.
OTHER ASSIGNMENTSHe is an external expert at the Agencie d'évaluation de la recherche et de l'enseignement supérieur (AERES), in France; he was a member of the National Post-Genome Commission of the Ministry of University and Scientific and Technological Research (MURST); he was representative for Italy at the OECD (Organisation for Economic Co-Operation and Development) for genetic testing; he was a member of the "Groupe d'experts en Genetique moleculaire", at the Ministère de la Santé, de la Famille et des Personnes Handicapées, in France; he has been a reviewer for the National Research Agency (ANR), France, since 2009. He is a member of the "Board of Trustees" of the Biagio Agnes Foundation.
ACADEMIC AND RESEARCH EXPERIENCE2019 - present: President of the Giovanni Lorenzini Foundation, Milan.
2019 - present: Expert Evaluator for theMaltese Medicine Authority.
2001 - present:Director of the U.O.C. Laboratory of Medical Genetics of the Policlinico di Tor Vergata.
1999 - present:Professor of Medical Genetics at the Faculty of Medicine and Surgery of the University of Rome "Tor Vergata".
2016 - present:Adjunct Professor of the University of Nevada, Reno School of Medicine, USA.
2003 – 2019: Adjunct Professor at the University of Arkansas for Medical Sciences, Little Rock, USA.
2020 – 2021 Management Training Diploma for Executives of Healthcare Companies, Executive programme, LUISS University of Rome.
2013 - 2019: President of Fondazione Policlinico Tor Vergata Foundation
2011 - 2015: Scientific Director of the Fatebenefratelli Research Center of the San Pietro Hospital in Rome.
1998 - 2011: Director of the School of Specialization in Medical Genetics, University of Rome "Tor Vergata".
1996 - 1997: Visiting Professor "MiniSabbatical" at the University of Southern California (USC), Los Angeles, USA.
1995 - 1999: Associate Professor of Human Genetics at the University of Rome "Tor Vergata".
1992 - 1995: Associate Professor of Molecular Genetics at the Faculty of Medicine and Surgery of the Catholic University of Milan, Rome – Policlinico Gemelli.
1990: Associate of the Groupe de Génétique Moléculaire INSERM U.91, Créteil, France.
1983 - 1992: Researcher of Molecular Genetics at the University of Urbino "Carlo Bo".
1983 - 1984: Visiting Researcher at the Unité de Recherches de Biologie Prénatale INSERM U.73, France.
AWARDS2023:“Celia Carrion Perez de Tudela” Award for your outstanding research contributions in the field of lipodystrophies and progeria syndromes, International Association of Relatives and People Affected of Lipodystrophy, Spain.
2023: “Radici”, Award Ass Cariatesi (CS)
2018: SIMI Medal, Italian Society of Internal Medicine
2017:Order of Merit of the Italian Republic
2017: National Medicine Award, Pescara
2016: Rocco Docimo Award, Cosenza
2015:Gaetano Conte Award for Neuromuscular Disorders
2014: Premio Benemerenza Scilla Cuore
2015: Alvaro Prize for Science and Culture
2011: Scanno Prize for Medicine (XXXIX edition)
2011: Premio Nazionale Gentile di Fabriano per la Scienza e l'Innovazione, XV Edition
2009:International Prize Calabria in the World
2009:"Vittorio Aprile" Award, Rome
2004:Pericle D'Oro Award for Scientific Research
2003:"Brutium" Science Award
2002:"Ferrari" Award Italian Society of Human Genetics (SIGU)
1984:Italian Association of Handicap Research and Treatment Award
ACTIVITIES AND AREAS OF SCIENTIFIC RESEARCH Mapping, identification and cloning of new genes in humansHe began his research activity in the field of Biochemistry and Genetics in 1980.
His main interest has been the mapping, identification and characterization of human diseases of genetic origin (Laron syndrome, Cystic fibrosis, DiGeorge syndrome, Mandibuloacral dysplasia, Friedrich's ataxia, Spinal muscular atrophy, myotonic dystrophy, psoriasis, galactosemia, hereditary hemolytic anemia, atherosclerosis and myocardial infarction, vacuolar neuromyopathy, Patella aplasia hypoplasia). The Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study(J. Med. Genet.: 34 Issue: 10 Pages: 798-804, 1997) provided scientific evidence that patients with deletion of the 22q11 region manifest a heterogeneous spectrum of symptoms and phenotypes. This fundamental study, cited more than 398 times, provided evidence for the first time of the phenotypic complexity associated with this syndrome and suggested the involvement of several genes located within the chromosomal region 22q11.
In the same year, Prof. Novelli focused his studies on the gene mapping of the region that allowed him to isolate and characterize a new gene, UFD1L, responsible for the ubiquitination process, expressed during development, located within the region deleta 22q11 (Hum Mol Genet., 6, 259-265, 1997). After isolation, Prof. Novelli studied the structure, expression and preservation of this gene during evolution and its pathogenetic role. For these studies (a total of 24 peer-reviewed articles), Prof. Novelli wrote two editorials (Trends Genet. 1999 Jul;15(7):251-4 and Mol. Med. Today, 2000 Jan;6(1):10-1). The results obtained during this period have earned him the participation in an EU consortium directed by P. Scambler and favored his collaboration with researchers and geneticists, in order to characterize the molecular mechanisms involved in the pathogenesis of the disease.
In collaboration with Dr. Meisterernst M. (Munich, Germany), Prof. Novelli subsequently published the cloning of a new gene, PCQAP (PC2 glutamine/Q-rich-associated protein), which maps within the deletion region and encodes a protein that constitutes a subunit of the large multiprotein complex PC2 (Genomics, 2001 Jun 15;74(3):320-32).
Continuing his research in this field, he focused his attention on the study of the regulatory effects of haploinsufficiency of the 22q11 region during development, analyzing the expression pattern of the MM16 orthologist gene in mouse embryos at different stages of development (Gene. 2007, 391(1-2):91-102) and studying its morphogenetic mechanisms in a mouse model of the disease. (Cardiovasc Pathol. 2006 Jul-Aug;15(4):194-202). Further studies have shown that periconceptional administration of folic acid and methonin are able to influence the incidence of congenital defects and may probably induce negative selection of embryos presenting with developmental abnormalities (Cardiovasc Pathol. 2008 Apr 14).
In a 2002 publication (Am J. Hum Genet., Aug;71(2):426-31), Novelli demonstrated for the first time that the mutation of a single nucleotide in the LMNA gene is responsible for a Progeroid Syndrome, Mandibuloacral Dysplasia (MAD) and suggested that this protein is actively involved in premature aging. Mutations in the LMNA gene have been found so far to be causative to about 26 different diseases, called "Laminopathies", including Muscular Dystrophy, Cardiomyopathies, Muscular Dystrophy, Lipodystrophy, Insulin Resistance, Diabetes, and Premature Aging. The involvement in this field is documented so far in 11 peer-reviewed articles published in prestigious journals (i.e. Hum Mol Genet., Exp Cell Res., Aging Cell, J Clin Endocrinol Metab, Physiol Genomics) and led to the establishment of a European Network funded by EU FP6 funding "Euro-laminopathies" no. 018690 (http://www.projects.mfpl.ac.at/euro-laminopathies/php/index.php).
The identification and characterization of an endothelial lipoprotein oxidized lipoprotein receptor splicing isoform (ox-LDLs): LOXIN, encoded by the OLR1 gene, has led to demonstrate a protective role of LOXIN in diseases related to LOX-1 overexpression, such as arteriosclerosis and tumors (Rev. In Int J. Mol. Sci.2017).
Gene therapyIn collaboration with D. Gruenert (San Francisco, USA), Prof. Novelli has developed an innovative gene targeting technique based on the use of oligonucleotides in order to restore proper gene function through homologous recombination mechanisms based on the use of small DNA fragments (SFHR: Small Fragment Homologous Replacement). In a series of articles published in Hum Mol Genet., Mol Therapy, Biotechniques, Hum Gene Ther., J. Clin Invest) they demonstrated the validity of these techniques to correct mutated human cells in vitro and in vivo. Recent developments and the use of new strategies have led to evidence that SFHR could be used in clinical therapy protocols for genetic diseases, and cell gene therapy. This technique represents the prototype of the current gene-editing approach.
Stem cellsUsing immunohistochic analysis and FACS, it was possible to isolate and characterize multipotent cells derived from human cytotrophoblasts (hCTMCs) from chorionic villus sampling (CVS). These cells represent a safe and convenient source of cell therapy cells as well as an ideaal target in in utero fetal gene therapy protocols (Cloning Stem Cells. 2009).
Subsequently, an original protocol for the treatment of Pulmonary Fibrosis in a mouse model was developed. This study has opened new perspectives for the use of AECII cells derived from HUES stem cells in the therapy of a still lethal and incurable lung disease (Eur Resp J. 2012)
A model of cancer stem cells was developed from human stem cells derived from amniotic and chorionic membranes. These cells are able to differentiate into neural cells and initiate a spontaneous process of transformation by acquiring an NB-like phenotype (Stem Cell Res Ther. 2014).
Finally, a protocol has been developed that allows the reprogramming of induced pluripotent human stem cells (hiPSCs) from patients suffering from genetic diseases. HiPS cells represent an important tool for human health, as they represent a valid in vitro model for the study of monogenic diseases, allowing to study their pathogenetic mechanism in gene and cell therapy protocols (Cell Reprogram 2015). Analysis of volatile compounds (VOCs) released in vitro
During the reprogramming of these cells and during their differentiation it was subsequently characterized (Sci Reports, 2017; Bioprotocols, 2017).
Personalized Medicine, Pharmacogenetics and PharmacogenomicsPersonalized medicine allows doctors to know the molecular constitution of each patient. The knowledge of the specific genetic profile of the patient helps the doctor in selecting patients to whom to offer a specific therapy for the characteristics of the individual. Personalized medicine is a direct extension of genomic medicine that uses genetic information to prevent or treat disease in adults or their children. In this field, Prof. Novelli has developed an original protocol and identified new genomic biomarkers for the efficacy of drugs and their adverse effects (Pharmacogenomics 2014, 2015, 2016, 2017). Recent studies have been directed to Stevens-Johnson syndrome, a toxic epidermal necrolysis associated with specific drugs (Plos One 2016, Pharmacogenomics 2017).
It also highlighted how genetic variations in microRNA candidate genes (miRNA or miR) could contribute to susceptibility to complex diseases such as diabetes, lupus and Chron's disease (Acta Diabetol, 2016, Molec Diagn Ther, 2017).
Prof. Novelli is currently involved in Covid-19 host-genetics identifying for the first time life-threating mutations in genes coding for interferons (Zhang et al, Science, 2020). In this context, he identified the first monoclonal antibodies against SARS-CoV-2 and discovered one of the first antiviral molecules against COVID-19.
Contribution to the dissemination of scienceGiuseppe Novelli has been actively involved in scientific dissemination in Italy at various levels, in the field of Human Genetics, medical and molecular, holding public conferences on different topics. He has regularly given interviews and contributes to the most authoritative organs of the Italian press such as newspapers, paper magazines, online scientific or speaking on radio and television programs.
MAIN RESEARCH PROJECTS− 2002-2004: "Genetics and Genomics of Atherosclerosis" MIUR.
− 2002-2004: "Dissecting mendelian phenotypes" MIUR (FIRB Funds).
− 2002-2004: "Operative network on Neuromuscular Disorders", Ministry of Health.
− 2002-2004: "Neurogenetics of neurodegenerative disorders" Ministry of Health.
− 2002-2004: "Research of cystic fibrosis phenotype modifier genes" MIUR.
− 2003- 2005: "MAD and laminophaties" Telethon Italia.
− 2005-2007: Pathophysiology and therapeutical approaches in MADA, a rare progeroid syndrome. Rare Disease Project: Conv. n. 526/A13. Istituto Superiore della Sanità.
− 2005-2009: EU funding FP6 NACBO "Novel and improved nanomaterials, chemistries and apparatus for nanobiotechnology".
− 2005-2007: AIRC (Italian Association for Cancer Research) "Genomics of Human Prostate Cancer". − 2005-2007: Congentital heart defects: genetics, embryology and clinical apsects. MIUR.
− 2004-2007: Genetics of Cystic Fibrosis. Lazio Region.
− 2005-2008: EU funding FP6-2004-LIFESCIHEALTH-5: Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical
− 2006-2008: Biomarkers identification in heart failure. Ministry of Health.
− 2005-2007: Myotonic dystrophy type 1 and type: from pathogenesis to development of innovative gene therapies (PRIN # 2005064759). MIUR.
− 2006-2007: Development of screening programs for beta-thalassemia prevention in Albania. Ministry of Foreign Affairs.
− 2007-2008: Development of screening programs for cystic fibrosis prevention in Albania. Ministry of Foreign Affairs.
− 2006-2008: Causes, evolution and progression of nasal polyps; role of modifier genes and a new approach through CGH array. Cystic Fibrosis Foundation, Italy.
− 2007-2009: Development of an RNA interference-based system for the molecular cell therapy of myotonic dystrophy. Telethon financing.
− 2007-2009: Identification of biomarkers during steorid doping. Ministry of Health.
− 2007-2009: Study of efficacy of statins in association with biphosphonate in Mandibuoloacral dysplasia and Hutchinson-Gilford Progeria. Italian Medicines Agency (AIFA). Approved.
− 2008-2010: New Gene therapy approach for DM1 and DM2. Association Francese contre le Myopathies, FM (France). Approved.
− 2009-2012 EU-FP7, BIO-NMD, Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of Neuromuscular Disorders.
− 2010-2012: "Lipid metabolism and cancer: LOX-1 a new potential molecular target in colon cancer therapy". Umberto Veronesi Foundation.
− 2016: "Undiagnosed diseases: a joint Italy- USA project". Ministry of Foreign Affairs.
− 2021: "Synthetic Antibodies neutralize SARS-CoV-2 infection of mammalian cells". Rome Foundation.
− 2021: "GeCoBioMark", POR-FESR Research Groups 2020.
− 2021: "STEMCOmAb", FISR2020.
− 2022: "UNDINE", HORIZON-HLTH-2021-DISEASE-04-07
MEMBERSHIP OF SCIENTIFIC SOCIETIES2019: Academia Europaea
2010:Oligonucleotide Therapeutics Society (OTS)
2008:Medical Academy of Rome
2007:African Society of Human Genetics (AfSHG)
2005: Board Committee,American Society of Gene Therapy (ASGT)
2002 American Society of Gene & Cell Therapy (ASGCT)
1997:Founder Member, Italian Society of Human Genetics (SIGU)
1990:Human Genome Organization (HUGO)
1989:European Society of Human Genetics, Board (ESHG)
1988: American Society of Human Genetics (ASHG)
PARTICIPATION IN EDITORIAL BOARDS2021 - present: COVID MDPI (Editor in Chief)
2020 - 2021: Genes (Guest Editor "Covid-19 and Molecular Genetics")
2019 - present IJMS -International Journal of Molecular Sciences (Editorial Board Member)
2019 - present Diabetes Monitor Journal (Editor)
2019 - present Human Genomics (Associate Editor)
2009 - present:Plos One (Associate Editor)
2001-present:ActaMyologica(AssociateEditor)
2005 – present: Frontiers in Pharmacology
2005 – present: Frontiers in Genetics
2004 - 2019:BMC Medical Genetics
2004 - present:Encyclopedia of Life Science for Genetics and Molecular Biology
2000 - present:The Therapeutic Clinic
2002 - present:Journal of Cardiovascular Medicine
2004 - 2019:Journal Inflammation & Allergy – Drug Targets (IADT)
2010 - 2019:Genetics Research International
2005 - 2008:Journal of Pharmacogenomics & Pharmacoproteomics
1999 - 2013:Clinical Genetics, 1999-2013
1999 - 2003:Neuromuscular Disorders
REVIEWER FOR SCIENTIFIC JOURNALSActa Myologica, Advances in Pharmacological Sciences; Amer J Med. Genet., Asian J Andrology, Arch. Dermatol., Ann Hum Biol, Expert Review of Anticancer Therapy; Atherosclerosis, BMC Medical Genetics; BBA Gene Structure & Expression, BioTechniques, Clin Genet, Eur J Neurol, Brain, Current Opinion in Cardiology, Eur J Hum Genet, Eur. Heart Journal, Neuromusc Dis, J Endocrinol Invest; Chemistry/Today; Biol Neonat; Am J Med Genet., Genetics, Gene, J. Dermatol. Invest., Circulation, Circulation Res, Cell Death and Differentiation, Development, Am J Hum Genet, Human Genetics, Hum Reproduction, Mechanisms of Ageing and Development, Molecular Medicine Today, Mol Genet Metab, Nature Genetics, Neuromuscular Disorders, Gene, Gene Express, Gene Therapy, Hum Mol Genet., Hum Mutat., Pharmacogenomics, Trends in Genet, Trends in Molecular Medicine, Biological Psychiatry, Thrombosis and Haemostasis, The Journal of Cardiovascular Pharmacology , J. Endocrinol Invest., J. Med. Genet., J. Mol. Medicine, J. Gene Medicine, J. Cardiovasc Pharmacol, Lancet, Gene Therapy, Mole Genet Metab, Mol. Hum. Repr.; J. Mol Endocrinol, Journal of Clinical Endocrinology and Metabolism, Molecular Cytogenetics; Mol. Therapy, PLOS One, PLOS Genetics, Lancet Neurology, Lancet, New England J. Medicine, Int J. Exp. Pathol., Vaccine, Seminar Ophtalmol.
PUBLISHED BOOKSDallapiccola B., Novelli G.: Essential Medical Genetics, Ed. Phoenix Phoenix, 1998
Novelli G., Giardina E., Genetica Medica Pratica, Arcane, 2003
Dallapiccola B., Novelli G.: Genetica Medica Essenziale, Ed. Il Minotauro, Collana Phoenix, 2006
Dallapiccola B., Novelli G.: Genetica Medica Essenziale, Ed. CIC Internazionali, 2nd, 2012
Dallapiccola B., Novelli G.: Genetica Medica, Edizioni Scientifiche Falco, 2022
IMPACTGiuseppe Novelli has obtained four international patents.
− 2000: N. MI2000A 002041: "Method for the determination of the SMN1 gene" filed on 19/09/2000. Italian. Y: no; LC: No.− 2004: N. MI2004A000251: “Production of a monoclonal antibody for UBE4A protein and its use in diagnostics”. Italian. Y: yes; LC: 1 (Abcam ltd.).
− 2005: WO /2005/080430 - Anti-ube4a/ufd2b polyclonal antibody and its use thereof as diagnostic and prognostic marker of 11q23 region alterations. International Application No.: PCT/IB2005/000305. Publication Data: 03.04.2006. International Filing Date: 08.02.2005. IPC: C07K16/40, G01N33/68, C07K16/00.
− 2006: WO/2006/137101 - Alternative splicing isoform of LOX-I protein encoding gene, and uses thereof. International Application No.: PCT/IT2006/000470. Publication Date: 28.12.2006. International Filing Date: 20.06.2006. IPC: C12Q 1/68 (2006.01). Y: yes; LC: 1.
He has mainly focused his research activity on Human, Molecular and Medical Genetics. It has contributed to the identification of several genes in humans. It has characterized the molecular cause of Laron Syndrome, Mandibuloacral Dysplasia, Psoriasis and Psoriatic Arthritis. He is currently studying the genetic basis of complex diseases, the characterization of iPS cell lines and the identification of novel genomic biomarkers for pharmacogenetics. He established a Center of Excellence for the study of genomics, complex and multifactorial diseases at the University of Rome "Tor Vergata", funded by MIUR in 2001. He founded Bioscience Genomics, a spin-off of the "Tor Vergata" University.
He has coordinated several research projects funded by MIUR, CNR, Ministry of Health, Telethon, AFM, EU FP5, EU FP6 and EU FP7, Ministry of Foreign Affairs, Veronesi Foundation, AIRC, AIFA, ISS.
BIBLIOMETRICSORCID: 0000-0002-7781-602X
Prof. Novelli is the author of 680 international peer-reviewed papers with an H-index of 68 and 25,031 citations (Scopus).Prof. Novelli, is named in the world’s top 2% of Scientists List .(https://ecebm.com/2023/10/04/stanford-university-names-worlds-top-2-scientists-2023/)