Professor Giuseppe Novelli (PhD) is Dean of the Medical School, at the Tor Vergata University of Rome, Italy and Head of the Human Genetics Research Unit at The Tor Vergata University of Rome (Italy). He is Adjunct Prof. at the Div. of Cardiology, University of Arkansas, Little Rock, (USA).

Professor Novelli is member of the Pharmacogenetics Working Party, EMEA (European Medicines Agency). He has also served for a period of 4 years as the member of OECD (Organisation for Economic Co-Operation and Development) in Genetic Tests Programs in Europe, and  for many years the Italian National Committee for Biotechnology, the National Committee on Genetic Testing of the Italian Ministry of Health. He served as expert the  Ministère de la Santé (France) and the Pharmacogenetics Advisory Board GlaxoSmithKline (GSK) (USA).

Professor Novelli spent both his undergraduate and postgraduate years studying biochemistry and genetics at Urbino University, Italy. He then spent 3 years as Associate Professor in Human Genetics at the Catholic University of Rome, before taking up his current position as Full Professor.

The Human Genetics Unit was established in 1999 under the leadership of Prof. Novelli, to advance human and medical genetics health care through excellence in basic, clinical and translational research. The unit undertakes a broad spectrum of research from the basic mechanisms of genetic diseases to translational projects involving gene therapy strategies and novel diagnostic methods for prenatal diagnosis. Prof. Novelli’s group, has made a significant and internationally recognised contribution towards understanding the relationship between disruption of the nuclear envelope lamin protein and premature aging. This includes the first demonstration that a mutation in the lamin gene can induce premature aging in humans. During the last 5 years Prof Novelli has tackled a new initiative, the use of gene targeting approaches to modify gene sequence in normal and mutated cells in vitro and in vivo.

Prof Novelli has over 300 original scientific publications including invited reviews for leader Journals in the field. The citation index is currently 12. The H-index is 37. He has long standing experience in project management, being PI for numerous projects funded by the Italian Ministry of Research, Italian Ministry of Health, Italian Telethon, and EU-FP6 (NACBO), Eu-FP6 (Euro-Laminopathies).

POSITION TITLE

Professor of Human Genetics, Department of Biopathology, Tor Vergata University, Rome, Italy

Dean of the School of Medicine, Tor Vergata University of Rome (Italy)

PROFESSIONAL EXPERIENCE

1981 - 1983    Assistant Researcher Urbino University

1983 - 1992    Assistant Professor Urbino University

1983 - 1984    Visiting Researcher Unite’ de Recherches de Biologie Prenatale INSERM U 73, Paris (France)

1990 - 1990:   Groupe de Gènètique Molèculaire INSERM U.91 Creteil (France).

1992 - 1995    Associate Professor Catholic University of Rome

1996:              Visiting Professor University of Southern California (Los Angeles), Department of Biochemistry and Molecular Biology;

1995 - 1999    Associate Professor Tor Vergata University of Rome

1999 -              Full Professor of Human Genetics Tor Vergata University of Rome, School of Medicine

2001                Director of Medical Genetics Laboratory at The Tor Vergata Hospital

2002                Professor of Medical Genetics Faculty of Science University of Urbino

2003                Adjunct Professor, Division of Cardiology, University of Arkansas, Little Rock, (USA)

2008                Dean of the School of Medicine, Tor Vergata University of Rome (Italy)

Activities

1999:   Member of the National Committee on Cloning (Italian Ministry of Health);

1999:   Consultant at the Criminal Police Division of Science and DNA analysis, Roma.

2000:   Member of the National Committee (Italian Ministry of Research) in Molecular Genetics;

2000:   Reviewer of INSERM (France) for scientific projects;

2000:   Member of the National Committee of Cell Stem Research (Italian Ministry of Health);

2000:   Member of the National Committee of Post-Genomic Project (Italian Ministry of Research);

2001:   Director of the Laboratory of Medical Genetics, Tor Vergata Hospital School;

2001:   Member of OECD (Organisation for Economic Co-Operation and Development) Genetic Tests Programs in Europe;.

2001:   Member of National Committee Biotechnology, President of Italian Ministry

2002:   Member of National Committee on Genetic Testing;

2003:  Member of the «GROUPE D’EXPERTS EN GENETIQUE MOLECULAIRE» Maladies neurologiques, musculaires, neuro-sensorielles et retards mentaux. Ministère de la santé, de la famille et des personnes handicapées (France).

2004:   Member of “Biosafety” President of Italian Ministry.

2005:   Member of the Pharmacogenetics Working Party, EMEA (European Medicines Agency), London;

2006:   Member of Working Group on “Expert of Advanced Therapies” Italian Agency of Medicine (AIFA).

2006:   Member of the Committee Rare Diseases Italian Ministry of Health and Delegate for the lazio Region.

2006:   Chair and founder member of the R.E.D.D. (Research for Drug Development)  Ltd. Committee

2006:   Member of the Scientific Advisory Board of Diatheva Ltd, (Fano, Italy).

2008:   Member of the Pharmacogenetics Advisory Board GlaxoSmithKline (GSK) (USA).

2008:   Member of European Science Foundation (ESF)

Recipient awards:

Italian Assn. Rsch. and Handicaps, 1984;

Italian Fedn. Study Hered. Dis. 1988, 89, 91, 94

Ferrari Awards for Molecular Genetics, SIGU meeting, Verona 2002

“Brutium” Award 2003 for scientific merits, Roma

Reviewer of:

Neuromuscular Disorders, Acta Myologica, Atherosclerosis, Clin Genet, Eur J Neurol, Eur J Hum Genet, Neuromusc Dis, J Endocrinol Invest; Chemistry/Today; Biol Neonat; Am J Med Genet., Genetica, Gene, J. Dermatol. Invest., Circulation, Cell Death and Differentiation, Am J Hum Genet, Human Genetics, Mechanisms of Ageing and Development, Molecular Medicine Today, Nature Genetics, BioTechniques, Gene, Hum Mol Genet., Trends in Genet, Trends in  Molecular Medicine, Biological Psychiatry, J. Med. Genet., J. Mol. Medicine. Current Opinion in Cardiology, Lancet. Gene Therapy, Mole Genet Metab, J. Mol Endocrinol, PLOS One, PLOS Genetics, Lancet Neurology, Lancet, New England J. Medicine.

Reviewing of grants for

U.S.-Israel Binational Science Foundation, Canada Genome, ECRare JTC, INSERM (France), Muscular Dystrophy Campaign-Grant (USA), Wellcome Trust (UK).

Member of the Editorial Board of:

Neuromuscular Disorders (1999-2003);

Clinical Genetics (pending)

Acta Myologica (pending)

Expert Opinion on Pharmacotherapy (pending)

BMC Medical Genetics (pending)

Encyclopedia of Life Science for Genetics and Molecular Biology (pending)

Membership:

American Society of Human Genetics (ASHG), 1988.

European Society of Human Genetics, Board  (ESHG), 1989.

Italian Society of Human Genetics (SIGU), 1997, Founder Member.

Human Genome Organization (HUGO), 1990

American Society of Gene Therapy, Board Committee (ASGT), 2005.

Public Population Project in Genomics (P3G), 2005

African Society of Human Genetics (AfSHG), 2007.

Research Projects Ongoing or Completed During the Last 3 Years:

• 2002-2004: “Genetics and Genomics of Atherosclerosis” Italian Ministry of University and Research.
• 2002-2004: ”Dissecting mendelian phenotypes” Italian Ministry of University and Research (Fondi FIRB).
• 2002-2004: “Operative network on Neuromuscular Disorders”, Italian Ministry of Health.
• 2002-2004:” Neurogenetics of neurodegenerative Disorders” Italian Ministry of Health.
• 2002-2004: “ Research of cystic fibrosis phenotype modifier genes” Italian Ministry of Education, University and Research.
• 2003- 2005: “MAD and laminophaties” Italian Telethon.
• 2005-2007: Pathophysiology and therapeutical approaches in MADA, a rare progeroid syndrome. Rare Disease Project: Conv. N. 526/A13. Italian National Institute of Health.
• 2005-2009: EU Grant 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. Italina Ministry of Universitry and Reseaerch.
• 2004-2007: Genetics of Cystic Fibrosis. Regione Lazio, Italy.
• 2005-2008: EU Grant FP6-2004-LIFESCIHEALTH-5: Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical
• 2006-2008:  Biomarkers identification in heart failure. Italian Ministry of Health.
• 2005-2007: Myotonic dystrophy type 1 and type : from pathogenesis to development of innovative gene therapies (PRIN # 2005064759). Italian Ministry of University and Research.
• 2006-2007: Development of  screening programs for beta-thalassemia prevention in Albania. Italian Ministry for Foreign Affairs
• 2007-2008: Development of  screening programs for cystic fibrosis prevention in Albania. Italian Ministry for 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. Italian Telethon Grant.
• 2007-2009: Identification of biomarkers during steorid doping. Italian Ministry of Health.
• 2008- Surface patterned, structured complex inorganic-organic hybrid nanomaterials for applications in health, chemistry and energy (SCINACE). Collaborative project. Large scale integrating project . EU FP7, submitted
• 2007-2009: Study of efficacy of statins in association with biphosphonate in Mandibuoloacral dysplasia and Hutchinson-Gilford Progeria. Italian Drug Agency (AIFA). Approved.
• 2008-2010: New Gene therapy approach for DM1 and DM2. Association Franciase contre le Myopathies, FM (France). Approved.

Patent

• 2000: N. MI2000A 002041: “Metodo per la determinazione del Gene SMN1” depositato in data 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.)
• 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

Scientific Contribution to the Organisation of International Conferences

1) Genome Medicine: Gene Therapy for the Millennium, 30 September – 3 October, 2001, Rome, Italy. Co-organizer

2) EMBO WORKSHOP 2005 ”CHROMOSOME STRUCTURAL ELEMENTS: FROM DNA SEQUENCE TO FUNCTION”. Villa Mondragone, Monte Porzio Catone, Rome, Italy  September 29-October 3, 2005 Session Chair and Speaker at EMBO meeting on Chromosome Structural Elements, Sept 05, Rome, Italy. Co-organizer, Session Chair and Speaker.

3) 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands. Co-organizer and speaker.

4) FP6 EU Meeting "Euro-Laminopathies" –Monte Porzio Catone, Roma, 23-25 marzo 2007. Co-organizer and Chair of session

5) EMBO Workshop 2009 “The Multiple faces of lamins in aging & Disease” 6-9 January, 2009, IMBA, Vienna, Austria. Scientific Organiser.

Invited speaker in International Conferences (2002-2008)

1. “Genetics of atherosclerosis” 2^nd International Symposium “CAD in the new millennium: from bench to bedside” Rome, 3-4 June 2002

2. “Les Mutations Génétiques”. Journée Franco-Italienne « Génome humain et biotechnologies ». Paris, 14 Juin 2002.

3. “Rare diseases and orphan drugs”. International Conference “Pharmacogenomics and Pharmacogenetics”. Rome, 18-23 September 2006

4. “Science between  advancement of knowledge and global market: ethics and practice of research in the third millennium”. International Conference “Geni, Genomi e Malattie dell’uomo”. Rome, 16 October 2003

5. “Update on atopic eczema/Dermatisis Syndrome. Croatia, 25-28  April 2004

6. “Cardiac Pacing and Electrophisiology” World Congress. Rome, 2-6 December 2007

7. “Genomics research in Africa Implications for disease diagnosis Treatment and Drug Development”. AfSHG the Annual Meeting of the African Genetic. “Genomic Biomarker in Pharmacogenetics and Pharmacogenomics”. El Cairo, 2-5 November 2007

8. “Update on HIV and related Co-infections”. I International Workshop. Venice, 13-14 November 2007

9. “Pharmacogenetics of cardiovascular disease” III Congreso de la Sociedad Espanola de Farmacogenetica y Farmacogenomica. Santiago de Compostela, 15-17 November 2007

10. “Genetics therapy and Stem Cell”. California Pacific Institute San Francisco SFHR, 26 October2007

11.  “Pharmacogenetics of  Osteoarticular Disorders” 2 International Meeting “Genetic Tests and Genomic Biomarkers: Regulation, Qualification and Validation”. Florence, 19 April 2008.

12. BioMonterrey 08, International Biotechnology Congress and Exhibition. “Bioscience and Biotechnology for Social Welfare” October 15-17th, 2008, CINTERMEX (Monterrey, Mexico). “The future of forensic DNA analysis”

Recent and Relevant Articles (selected from 2004-2008)

• Contino G, Amati F, Pucci S, Pontieri E, Pichiorri F, Novelli A, Botta A,Mango R, Nardone AM, Sangiuolo FC, Citro G, Spagnoli LG, Novelli G. Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. Gene. 2004 Mar 17;328:69-74.
• Dotti C, D'Apice MR, Rogliani P, Novelli G, Saltini C, Amicosante M. Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity. Sarcoidosis Vasc Diffuse Lung Dis. 2004 Mar;21(1):29-34.
• Giardina E., Novelli G., Costanzo A.,  Nisticò G., Bulli C., Sinibaldi C., Sorgi M.L., Cimenti S., Pallone F., Taccari E., Borgiani P.: Psoriatic Arthritis and CARD15 Gene Polymorphisms: No Evidence for Association in the Italian Population. J. Invest. Dermatol. 122, 1106-1108 (2004).
• Dotti C, D'Apice MR, Rogliani P, Novelli G, Saltini C, Amicosante M.: Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity. Sarcoidosis Vasc Diffuse Lung Dis. 2004 Mar;21(1):29-34.
• D'Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G.: Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism. Prenat Diagn. 2004 Dec 15;24(12):981-3.
• Giardina E, Capon F, De Rosa MC, Mango R, Zambruno G, Orecchia A, Cimenti S, Giardina B, Novelli G.: Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus. Ann Hum Genet. 2004 Nov;68(Pt 6):639-45.
• Sangiuolo F, Filareto A, Giardina E, Nardone AM, Pilu G, Pietropolli A, Bertini E, Novelli G.: Prenatal diagnosis of spinal muscular atrophy with respiratory di stress (SMARD1) in a twin pregnancy. Prenat Diagn. 2004 Oct;24(10):839-41.
• Amati F, Biancolella M, D'Apice MR, Gambardella S, Mango R, Sbraccia P, D'Adamo M, Margiotti K, Nardone A, Lewis M, Novelli G.: Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. Gene Expr. 2004;12(1):39-47.
• Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol. 2004 Sep;13(3):164-6.
• Gruenert DC, Kunzelmann K, Novelli G, Colosimo A, Kapsa R, Bruscia E. Oligonucleotide-based gene targeting approaches. Oligonucleotides. 2004;14(2):157-8;
• Rossi L, Castro M, D'Orio F, Damonte G, Serafini S, Bigi L, Panzani, Novelli G, Dallapiccola B, Panunzi S, Di Carlo P, Bella S, Magnani M. Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients. Blood Cells Mol Dis. 2004 Jul-Aug;33(1):57-63.
• Vallo L, Bonifazi E, Borgiani P, Novelli G, Botta A. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population. Mol Cell Probes. 2005 - February;19(1):71-74.
• Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri ML, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G. In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement. Hum Gene Ther. 2005 Jul;16(7):869-80.
• Mango R, Biocca S, Del Vecchio F, Clementi F, Sangiuolo F, Amati F, Filareto A, Grelli S, Spitalieri P, Filesi I, Favalli C, Lauro R, Mehta JL, Romeo F, Novelli G.  In Vivo and In Vitro Studies Support That a New Splicing Isoform of OLR1 Gene Is Protective Against Acute Myocardial Infarction. Circ Res. 2005 Jun 23; [Epub ahead of print]
• Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G.  Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet. 2005 Jun 1;14(11):1489-502. Epub 2005 Apr 20.
• Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K.  Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A. 2005 May 15;135(1):66-8.
• Pesce CD, Bolacchi F, Bongiovanni B, Cisotta F, Capozzi M, Diviacco S, Quadrifoglio F, Mango R, Novelli G, Mossa G, Esposito C, Ombres D, Rocchi G, Bergamini A. Anti-gene peptide nucleic acid targeted to proviral HIV-1 DNA inhibits in vitro HIV-1 replication. Antiviral Res. 2005 Apr;66(1):13-22.
• Zaffanello M, Zamboni G, Schadewaldt P, Borgiani P, Novelli G. Neonatal screening, clinical features and genetic testing for galactosemia. Genet Med. 2005 Mar;7(3):211-2.
• Hofer AC, Tran RT, Aziz OZ, Wright W, Novelli G, Shay J, Lewis M.  Shared phenotypes among segmental progeroid syndromes suggest underlying pathways of aging. J Gerontol A Biol Sci Med Sci. 2005 Jan;60(1):10-20. Review.
• Merlini L, Sabatelli P, Columbaro M, Bonifazi E, Pisani V, Massa R, Novelli G. Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve. 2005 Jun;31(6):764-7.
• Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G.: Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics. 2005 Jul 26; [Epub ahead of print].
• Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri ML, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G. : In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. Hum Gene Ther. 2005 Jul;16(7):869-80.
• Mango R, Vecchione L, Raso B, Borgiani P, Brunetti E, Mehta JL, Lauro R, Romeo F, Novelli G. Pharmacogenomics in cardiovascular disease: the role of single nucleotide polymorphisms in improving drug therapy. Expert Opin Pharmacother. 2005 Dec;6(15):2565-76. Review. PMID: 16316297 [PubMed - indexed for MEDLINE].
• Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.Neurology. 2005 Nov 22;65(10):1631-5. PMID: 16301493 [PubMed - indexed for MEDLINE].
• Torre P, Bertoli M, Di Giovanni S, Scommegna S, Conte C, Novelli G, Cianfarani S. Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy. J Endocrinol Invest. 2005 Jul-Aug;28(7):657-62. PMID: 16218051 [PubMed - indexed for MEDLINE].
• Del Vecchio F, Filareto A, Spitalieri P, Sangiuolo F, Novelli G. Cellular genetic therapy. Transplant Proc. 2005 Jul-Aug;37(6):2657-61. Review. PMID: 16182776 [PubMed - indexed for MEDLINE].
• Guarino S, Perricone C, Guarino M, Giardina E, Gambardella S, Rosaria D'Apice M, Bulli C, Perricone R, Novelli G. Gonadal mosaicism in hereditary angioedema. Clin Genet. 2006 Jul;70(1):83-5. No abstract available. PMID: 16813612 [PubMed - in process].
• Giardina E, Predazzi I, Sinibaldi C, Peconi C, Amerio P, Costanzo A, Paradisi A, Capizzi R, Paradisi M, Chimenti S, Taccari E, Novelli G. PSORS2 markers are not associated with psoriatic arthritis in the Italian population. Hum Hered. 2006;61(2):120-2. Epub 2006 May 30. PMID: 16733365 [PubMed - in process].
• Novelli G, Borgiani P, Mango R, Romeo F, Mehta JL.  OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample. Eur J Hum Genet. 2006 May 17; [Epub ahead of print] No abstract available. PMID: 16724009 [PubMed - as supplied by publisher].
• Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L. Identification of a novel mutation in the SRY gene in a 46, XY female patient. Eur J Med Genet. 2006 Apr 17; [Epub ahead of print], PMID: 16675314 [PubMed - as supplied by publisher].
• Bonifazi E, Gullotta F, Vallo L, Iraci R, Nardone AM, Brunetti E, Botta A, Novelli G. Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I. Clin Chem. 2006 Feb;52(2):319-22. PMID: 16449216 [PubMed - indexed for MEDLINE].
• Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta. 2006 Mar;1762(3):329-34. Epub 2005 Dec 6. PMID: 16376058 [PubMed - indexed for MEDLINE].
• Falconi M, Biocca S, Novelli G, Desideri A. Molecular dynamics simulation of human LOX-1 provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant. BMC Struct Biol. 2007 Nov 7;7:73. PMID: 17988382 [PubMed - indexed for MEDLINE].
• Borgiani P, Perricone C, Ciccacci C, Romano S, Novelli G, Biancone L, Petruzziello C, Pallone F.  Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population. Gastroenterology. 2007 Sep;133(3):1049-51; author reply 1051-2. PMID: 17854611 [PubMed - indexed for MEDLINE].
• Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. Epub 2007 Sep 11. PMID: 17848409 [PubMed - indexed for MEDLINE].
• Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G, Fumagalli L, Marino B, Businaro R.  Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol. 2008 Apr 14; [Epub ahead of print] PMID: 18417366 [PubMed - as supplied by publisher].
• Vecchione L, Gargiul E, Borgiani P, Predazzi I, Mango R, Romeo F, Magnani M, Novelli G. Genotyping OLR1 gene: a genomic biomarker for cardiovascular diseases. Recent Patents Cardiovasc Drug Discov. 2007 Jun;2(2):147-51. PMID: 18221114 [PubMed - indexed for MEDLINE]
• Biocca S, Filesi I, Mango R, Maggiore L, Baldini F, Vecchione L, Viola A, Citro G, Federici G, Romeo F, Novelli G. The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization. J Mol Cell Cardiol. 2008 Mar;44(3):561-70. Epub 2007 Dec 7. PMID: 18191942 [PubMed - in process].
• Alghisi F, Angioni A, Tomaiuolo AC, D'Apice MR, Bella S, Novelli G, Lucidi V. Diagnosis of atypical CF: A case-report to reflect. J Cyst Fibros. 2008 Jan 2; [Epub ahead of print] PMID: 18180206 [PubMed - as supplied by publisher]
• Perricone C, Borgiani P, Romano S, Ciccacci C, Fusco G, Novelli G, Biancone L, Calabrese E, Pallone F. ATG16L1 Ala197Thr is not associated with susceptibility to Crohn's disease or with phenotype in an Italian population. Gastroenterology. 2008 Jan;134(1):368-70. No abstract available. PMID: 18166373 [PubMed - indexed for MEDLINE].
•  Mattioli E, Columbaro M, Capanni C, Santi S, Maraldi NM, D'Apice MR, Novelli G, Riccio M, Squarzoni S, Foisner R, Lattanzi G.Drugs affecting prelamin A processing: effects on heterochromatin organization. Exp Cell Res. 2008 Feb 1;314(3):453-62. Epub 2007 Nov 24. PMID: 18093584 [PubMed - indexed for MEDLINE].
• Giardina E, Pietrangeli I, Martone C, Asili P, Predazzi I, Marsala P, Gabriele L, Pipolo C, Ricci O, Solla G, Sineo L, Spinella A, Novelli G.  In silico and in vitro comparative analysis to select, validate and test SNPs for human identification. BMC Genomics. 2007 Dec 12;8:457. PMID: 18076761 [PubMed - indexed for MEDLINE].
• Borgiani P, Ciccacci C, Forte V, Romano S, Federici G, Novelli G. Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians. Pharmacogenomics. 2007 Nov;8(11):1545-50. PMID: 18034619 [PubMed - in process].
• Giardina E, Paolillo N, Sinibaldi C, Novelli G. R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis. and atopic dermatitis in Italian patients. Dermatology. 2008;216(1):83-4. No abstract available. PMID: 18032906 [PubMed - indexed for MEDLINE].
• Pisani V, Panico MB, Terracciano C, Bonifazi E, Meola G, Novelli G, Bernardi, G, Angelini C, Massa R. Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve. 2008 Nov;38(5):1405-11.PMID: 18816606 [PubMed - in process].
• Conte C, Gambardella S, Bulli C, Rinaldi F, Di Marino D, Falconi M, Bramanti P, Desideri A, Novelli G. Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients. Genet Test. 2008 Sep;12(3):437-42. PMID: 18666859 [PubMed - in process].
• di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle. 2008 Jul 1;7(13):2030-7. Epub 2008 Apr 11. PMID: 18604166 [PubMed - indexed for MEDLINE].
• Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. Clin Genet. 2008 Oct;74(4):374-83. Epub 2008 Jun 28. PMID: 18554282 [PubMed - in process].
• Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G, Fumagalli L, Marino B, Businaro R. Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol. 2008 Apr 14. [Epub ahead of print] PMID: 18417366 [PubMed - as supplied by publisher].
• Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, D'Apice MR, Bettin MD, Pignatti PF, Castaldo G, Novelli G. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibros. 2008 Sep;7(5):347-51. Epub 2008 Feb 14. PMID: 18280224 [PubMed - in process].

Invited paper

• Novelli G., Amati F., Dallapiccola B.:UFD1L AND CDC45L: Role of either, neither or both in DiGeorge syndrome and related phenotypes? Trends Genet 15, 251-252 (1999).
• Botta A, Amati F, Novelli G.: Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse models. Trends Genet. 2001 Oct;17(10):551-4.
• Novelli G, Margiotti K, Sangiuolo F, Reichardt JK.: Pharmacogenetics of human androgens and prostatic diseases. Pharmacogenomics. 2001 Feb;2(1):65-72. Review.
• Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G.: Towards the pharmacogenomics of cystic fibrosis. Pharmacogenomics. (2002) 3:75-87. Review.
• Novelli G, Gruenert DC: Genome medicine: gene therapy for the millennium. Parmacogenomics. (2002);3(1):15-8.
• Novelli G. D’Apice MR: The strange case of the ‘lumper’ lamin A/C gene and human premature ageing. (2003) Trends in Molecular Medicine, Sep;9(9):370-5.
• Novelli G., Borgiani P., Giardina E., Mango R., Contino G., Mehta JL: Role of genetics in prevention of coronary atherosclerosis. Curr. Op. Cardiol. (2003) 2003 Sep;18(5):368-371
• Novelli G. The genome after 50 years after Watson and Crick Genomes 2. Eur J Hum Genet. 2004 Apr;12(4):338.
• Novelli G, Margiotti K, Chiocca AM, Spera E, Micali F, Reichardt JK. Pharmacogenetics of human androgens and prostate cancer--an update.Pharmacogenomics. 2004 Apr;5(3):283-94.
• Sangiuolo F, D'Apice MR, Gambardella S, Di Daniele N, Novelli G. Toward the pharmacogenomics of cystic fibrosis--an update. Pharmacogenomics. 2004 Oct;5(7):861-78. Review.
• Sangiuolo F, Novelli G.: Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques. Cytogenet Genome Res. 2004;105(2-4):435-41.
• Novelli G, Contino G.: Memories from our genes. Eur J Hum Genet. 2008 Feb 20; [Epub ahead of print] No abstract available. PMID: 18285830 [PubMed - as supplied by publisher]
• Sangiuolo F, Scaldaferri ML, Filareto A, Spitalieri P, Guerra L, Favia M, Caroppo R, Mango R, Bruscia E, Gruenert DC, Casavola V, De Felici M, Novelli G. Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR). Front Biosci. 2008 Jan 1;13:2989-99. Review PMID: 17981772 [PubMed - indexed for MEDLINE].
• Sirugo G, Hennig BJ, Adeyemo AA, Matimba A, Newport MJ, Ibrahim ME, Ryckman KK, Tacconelli A, Mariani-Costantini R, Novelli G, Soodyall H, Rotimi CN, Ramesar RS, Tishkoff SA, Williams SM. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet. 2008 Jul;123(6):557-98. Epub 2008 May 30. Review.

Books 

“Genetica”: S.E. Curtoni, Dallapiccola B., De Marchi M., Momigliano Richiardi P., A. Piazza, A. Ballabio, G. Novelli. II ediz. UTET, Torino (1996).

“Genetica Medica Essenziale”: B. Dallapiccola., G. Novelli. Phoenix Editrice,  Soc. Coop. a.r.l., Roma (1998).

“Genetica medica pratica”: G. Novelli, E. Giardina, Aracne Ed., Roma , 2003

“Genetica Medica Essenziale”: B. Dallapiccola., G. Novelli. II. Ed. Il Minotauro, Roma (2006).

Scientific leadership profile

Throughout my career, I have designed studies, reported results and defended positions that made the fields of research in which I was active made move forward.  My primary focus was the mapping, identification and characterization of human-disease genes (Laron dwarfism, cystic fibrosis, DiGeorge syndrome, Mandibuloacral dysplasia, Friedrich ataxia vitamin-E-deficiency, spinal muscular atrophy, hypoplastic glomerulocystic kidney disease, myotonic dystrophy, psoriasis, galactosemia, hereditary nonspherocytic haemolytic 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 the scientific evidence showing that patients with 22q11 deletion provide a large spectrum of symptoms and phenotypes. This landmark study (cited more 398 times) provided the first of the complexity of the phenotype associated to this syndrome and suggest the involvement of different genes mapping in the 22q11 region. In the same year, I started in searching for genes mapping in the region and isolate and characterized a novel one, UFD1L, a developmentally expressed ubiquitination gene, which is deleted in 22q11 syndrome (Hum Mol Genet., 6, 259-265, 1997). After the isolation, I studied the structure , the expression, the conservation during evolution and its role in the syndrome.  For these studies (in total 24 peer-reviewed articles), I 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 allowed my participation to a EU consortium (chaired by P. Scambler) and facilitated collaboration with basic researchers and geneticists, trying to find the pathophysiological pathways and molecular mechanisms underlying some of the observations that I had made in my first studies.  In collaboration with Dr. Meisterernst M (Munich, Germany), we published the cloning of a novel gene, PCQAP (PC2 glutamine/Q-rich-associated protein), that maps to the DiGeorge typically deleted region and encodes a protein identified as a subunit of the large multiprotein complex PC2 (Genomics, 2001 Jun 15;74(3):320-32). 

During the last 5 years I continued researches in this field focusing my attention studying the regulatory effects of 22q11 haploinsufficiency during development by analyzing the expression pattern of the orthologous MM16 genes in mouse embryos at different stages of development (Gene. 2007, 391(1-2):91-102) and studying the morphogenetic mechanisms in a mouse model for this disorder (Cardiovasc Pathol. 2006 Jul-Aug;15(4):194-202). Recently, we also demonstrated that folic acid and methionine periconceptional supplementations may influence the incidence of congenital defects and may probably induce negative selection of embryos presenting developmental anomalies (Cardiovasc Pathol. 2008 Apr 14; [Epub ahead of print]).

In 2002 publication (Am J. Hum Genet., Aug;71(2):426-31), I demonstrated for the first time that a single nucleotide mutation in the LMNA gene is responsible of a progeroid syndrome, the mandibuloacral dysplasia (MAD) and suggest that this protein is actively involved in premature aging. Mutations in the LMNA gene have been found at present in about 26 different diseases called as “laminopathies” which include muscular dystrophy, cardiomyopathy, lipodystrophy, insulin-resistance, diabetes, and premature aging. The involvement of my research group in this field is documented at present by 11 peer reviewed papers appeared on prestigious journals (i.e. Hum Mol Genet., Exp Cell Res., Aging Cell, J Clin Endocrinol Metab, Physiol Genomics) and the establishment of an European Network funded by an EU grant FP6 “Euro-laminopathies” no. 018690 (http://www.projects.mfpl.ac.at/euro-laminopathies/php/index.php). Based on my last researches, I received few months ago the authorisation of the Italian Drug Agency and local Ethical Committee in start with the first clinical trial for treatment of premature aging syndromes based on a innovative therapy.

In my gene therapy research, I demonstrated in collaboration with D. Gruenert (San Francisco, USA) that oligonucleotide-base gene targeting strategy is able to restore a normal gene function by homologous recombination using small DNA fragment (SFHR) (Small Fragment Homologous Replacement). This approach uses small DNA fragments (SDF) to target specific genomic loci and induce sequence and subsequent phenotypic alterations. In a series of papers published on Hum Mole Genet., Mol Therapy, Biotechniques, Hum Gene Ther., J. Clin Invest) we demonstrated the efficiency of this techniques to correct mutated human cells in vitro and in vivo. Recent advances in gene targeting and novel strategies have led to the suggestion that SFHR might be used as clinical therapy for genetic disease and used in the cellular genetic therapy approach (paper submitted).

In recognition of my work, I received several awards in my country, invitations to many conferences and meetings, Scientific Discipline and Academic involvements, Editorial Board membership and commercialisation activities, as in described in CV.

My citation index, excluding own citations, is currently 12 (average citations per item) and the H index is 37. Published items for year and citations for year are reported below (The latest 20 years are displayed)