Giuseppe Novelli - Curriculum Vitae#

  • 1983 to 1985: Postgraduate Speciality in Medical Genetics. University "La Sapienza", Rome, Italy
  • 1981 to 1987: Didactic and Research Activity, University Researcher, Faculty of Chemistry, University of Urbino “Carlo Bo”, Urbino, Italy
  • 1977 to 1981: Biological Science Degree, with honours, University of Urbino “Carlo Bo”, Urbino, Italy

  • 2018 - present Delegate (Healthcare issues), Conference of Italian Universities Rectors – CRUI, Italy
  • 2016 to present Member and Coordinator of Genetics Working Group, National Committee for Biosafety, Biotechnologies and Life Sciences (CNBBSV), Italian Presidency of the Council of Ministers, Italy
  • 2016 to present Chairman, National Observatory for Healthcare Professions, Ministry of Education, University and Research, Italy
  • 2016 to present Expert, European Medicines Agency – EMA, London
  • 2016 to present Member of the Undiagnosed Rare Disease Network Italy
  • 2013 to present Member, Health Council of the Italian Ministry of Health, Rome, Italy
  • 2012 to present Genetics Consultand, Research Centre “IRCCS Neuromed”, Pozzilli (IS), Italy
  • 2009 to 2018 President of the Italian College of Professors of Medical Genetics
  • 2015 to 2018 Vice-President, Conference of Italian Universities Rectors - CRUI, Italy
  • 2016 to 2018 Chairman, Medical Genetics Committee for National Scientific Certification, Ministry of Education, University and Research, Italy
  • 2016 to 2017 Member, Genome Project National Committee, Italy at Ministry of Health
  • 2002 to 2016 Member, Ethical Committee University Hospital Tor Vergata – PTV, Rome, Italy
  • 2008 to 2015 Member, Pharmacogenomics Working Party (PgWP) of European Medicines Agency, EMA, London, UK
  • 2011 to 2013: Member of the Board, ANVUR -National Agency for Quality Assessment of University and Research, Italy
  • 2008 to 2011: Dean, Faculty of Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy 2008 2010 to 2013: Member of European Science Foundation (ESF)
  • 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
  • 2001 Member of OECD (Organisation for Economic Co-Operation and Development), Genetic Tests Programs in Europe
  • 2000 Member, Study Committee on the Use of Stem Cells at the Italian Ministry of Health
  • 1998 to 2000 Member, Research Committee, University of Rome Tor Vergata, Rome, Italy
  • 1999 to 2000 Member, Scientific Council of Experimental Institute of National Council of Research Italy – CNR, Rome, Italy
  • 1998 to 1999 Member, Working Groupe on “Cloning”, Presidency of Council Italian Ministry
  • 1996 to 1998 Member, Ethical Committee School of Medicine, University of Rome Tor Vergata, Rome, Italy
  • 1992 to 1995 Consultand, Italian Ministry of Interior (Scientific Police)

  • His 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)
  • Giuseppe Novelli 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
  • In 2002 publication (Am J. Hum Genet., Aug;71(2):426-31), Novelli 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 his 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 (
  • Identification and characterization of a splicing isoform of the endothelial receptor for oxidized low-density lipoprotein (ox-LDLs) : LOXIN, encoded by the OLR1 gene. They demonstrated a protective role of LOXIN in pathologies correlated with LOX-1 overexpression such as atherosclerosis and tumors (Rev. In Int J. Mol. Sci.2017)

The publications of Giuseppe Novelli has an index "h" Hirsch is 68, and his name is among the TIS (Top Italian Scientists

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