February 27 1959, Italy



Uni: tel.
06 /20900665 - 06/20900664

Giuseppe Novelli
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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).



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

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



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)



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)



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:




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 2005CHROMOSOME 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” 2nd International Symposium “CAD in the new millennium: from bench to bedside” Rome, 3-4 June 2002
  1. “Les Mutations Génétiques”. Journée Franco-Italienne « Génome humain et biotechnologies ». Paris, 14 Juin 2002.
  1. “Rare diseases and orphan drugs”. International Conference “Pharmacogenomics and Pharmacogenetics”. Rome, 18-23 September 2006
  1. “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
  1. “Update on atopic eczema/Dermatisis Syndrome. Croatia, 25-28  April 2004
  1. “Cardiac Pacing and Electrophisiology” World Congress. Rome, 2-6 December 2007
  1. “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
  1. “Update on HIV and related Co-infections”. I International Workshop. Venice, 13-14 November 2007
  1. “Pharmacogenetics of cardiovascular disease” III Congreso de la Sociedad Espanola de Farmacogenetica y Farmacogenomica. Santiago de Compostela, 15-17 November 2007
  1. “Genetics therapy and Stem Cell”. California Pacific Institute San Francisco SFHR, 26 October2007
  1.  “Pharmacogenetics of  Osteoarticular Disorders” 2 International Meeting “Genetic Tests and Genomic Biomarkers: Regulation, Qualification and Validation”. Florence, 19 April 2008.
  1. 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)


Invited paper


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 ( 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)

Novelli IP Novelli citation index