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Research Interests
  • In 1995, in Dr Michele D’Urso Laboratory as graduate student, he contributed to the identification and characterization of a novel gene, SYBL1, localised at Human Pseudoautosomal Region 2. Unlike all Xp PAR genes studied, this synaptobrevin like gene undergoes X inactivation. In addition, it is also inactive on the Y chromosome, thereby maintaining dosage compensation in an unprecedented way (D'Esposito et al. 1996, Nat Genet 13:227-9).
  • From 1996 to 1999, he was a PhD student at University of Bologna. In collaboration with Professor Antonino Forabosco, he worked on the project “The human pseudoautosomal region 1: characterisation, gene content and evolution”, contributing to the cloning of three novel pseudoautosomal human genes and two conserved mouse orthologs. These genes escape X inactivation and have a functional homologue on the Y chromosome (Gianfrancesco et al. 1998, Hum Mol Genet 7:407-14; Gianfrancesco et al. 1999, Hum Mol Genet 8:61-7; Ciccodicola et al. 2000, Hum Mol Genet 9:395-401; Gianfrancesco et al. 2001 Genome Res 11:2095-100).
  • From 2000, after the sequencing of the entire Human Genome, he shifted his interest on the identification of causative genes responsible for human diseases. Over the past few years, he contributed to the identification of several genes causing human diseases. In 2000, in the laboratory of Dr. D'Urso, he contributed to the identification of NEMO, a gene responsible for Incontinentia Pigmenti (Smahi et al. 2000, Nature 405:466-72).
  • From 2001 to 2003, he worked at the Institute of Population Genetics in Alghero (Sardinia, Italy). Working on Genetic Isolates from Sardinia (particularly from the Ogliastra region) that are instrumental to study multifactorial human diseases, he contributed to the identification of a susceptibility locus for human Uric Acid Nephrolithiasis (Gianfrancesco et al. 2003, Am J Hum Genet 72:1479-91).
  • From 2007, in collaboration with Douglas Marchuk of Duke University Medical Center, he focused on the identification of gene and mutations responsible for a vascular disease as Cerebral Cavernous Malformations (Gianfrancesco et al. 2007, Am J Med Genet 144:691-695; Gianfrancesco et al. 2008, Neuroscience 155:345-349, Liquori et al. 2008, Neurogenetics 9:25-31). With the availability of the next generation sequencing technologies, he currently aims to solve the genetic basis of complex disorders as Paget’s disease of bone (that is characterized by one or more areas of aggressive osteoclast-mediated bone resorption preceding imperfect osteoblast-mediated bone repair) and its associated neoplastic degenerations (Gennari et al. 2010, J Bone Miner Res 25:1375-1384, Albagha et al. 2011, Nat Genet 43:685-689, Gianfrancesco et al. 2012, J Bone Miner Res 27:443-52, Gianfrancesco et al. 2013, J Bone Miner Res 28:341-50, Albagha et al. 2013, J Bone Miner Res 28:2338-2346, Divisato et al. 2016, Am J Hum Genet in press). From 1995 to date scientific activity of Fernando Gianfrancesco is described in 62 manuscripts for a total citations of 1474 and Scopus h-index of 19.




Short CV

Education and Career Appointments

  • 2014 - Board Member of the Forum in Bone and Mineral Research (FBMR).
  • 2014 - Member of the Scientific Committee of the Italian Society for Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS).
  • 2012 - Teaching Staff Member of PhD program in Biomolecular Science of the Second University of Naples (SUN) Italy.
  • 2011-2012 Professor of Medical Genetics at University of Sannio, Benevento, Italy.
  • 2007-2009 Appointed “Subject Matter Expert in Genetics” at Parthenope University of Naples, Naples, Italy.
  • 2001 - Permanent Position (Full Researcher) National Research Council of Italy (CNR).
  • 2001 - Permanent Position (Full Researcher) at the Italian Genomics Research Company Shardna Life Sciences, Cagliari, Italy.
  • 28.04.2000 - PhD in Morphological and Molecular Sciences, University of Bologna, Italy.
  • 21.07.1994 - Degree with full marks in Biology from Federico II University of Naples, Naples, Italy.

Research Activities In Foreign Countries

  • 2015 - Visiting Scientist at Department of Biomedical Sciences and Medicine, University of Algarve (, Faro, Portugal.
  • 2008 - Visiting Scientist at Genomics Research Centre, Griffith University ( - Gold Coast, Queensland, Australia.
  • 2006 - Visiting Scientist at Department of Molecular Genetics and Microbiology, Duke University Medical Center ( - Durham, NC, USA
  • 2000 - Visiting Scientist at National Institute on Aging (NIA) ( , National Institute of Health (NIH) in Baltimore (MD) USA.


  • 2012 - Recipient of the 2012 European Calcified Tissue Society (ECTS)/Amgen Bone Biology Fellowship
  • 2010 - Award from Italian Society for Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS) for the oral communication “Interaction between allelic variants of TNFRSF11A and mutations of p62/SQSTM1 influence the clinical expression of Paget's disease” at 10th Annual Meeting, September 29-October 2, 2010, Brescia, Italy.
  • 2008 - Griffith Health Distinguished Visiting Researcher Award from Griffith University, Queensland, Australia.
  • 2000  - Second Fellow Prize from Telethon Foundation on the Scientific Research Project E0927 Incontinentia Pigmenti type 2 (IP2): isolation and characterization of the gene through transcriptional and sequence analysis.
  • 2000 - Fellow Prize from Telethon Foundation on Scientific Research Project E0927 Incontinentia Pigmenti type 2 (IP2): isolation and characterization of the gene through transcriptional and sequence analysis.
  • 1997 -  Fellow Prize from the Scientific Committee of the Italian Society of Human Genetics (SIGU) ( for the oral communication “A novel Pseudoautosomal gene encodes a putative GTP-binding protein”.

Memberships in Scientific Societies

  • The American Society of Human Genetics (ASHG).
  • The American Society for Bone and Mineral Research (ASBMR).
  • European Calcified Tissue Society (ECTS).
  • Italian Society of Human Genetics (SIGU).
  • Italian Society for Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS).

External International Examiner

  • Jury Member for PhD thesis Genetic and functional analysis of the PDB6 locus in Paget’s Disease of Bone of Dr Iris Alexandra Lopes da Silva (Universidade Do Algarve, Portugal) (Year 2015).        
  • International Member of Portuguese Agency for Assessment and Accreditation of Higher Education (A3ES)(Year 2015).
  • Referee of the European Research Council (ERC) Starting Grant 2013 project proposals - 6th Call (Year 2013).
  • Referee of the European Research Council (ERC) Starting Grant 2012 project proposals - 5th Call (Year 2012).
  • Griffith University (Australia), International Examiner for the PhD thesis titled “Genomic Analysis of Complex Disease in the Norfolk Island “Bounty” Mutineer Descendants”    Year: 2011.

International Patents

  • Gianfrancesco F - International application number PCT/IB2015/053731 - Diagnostic marker for Paget disease of bone.
  • Pirastu M, Gianfrancesco F, Esposito T, Ombra MN - International application number PCT/IT2003/000627 (WO 2004/035828 A3) - Diagnostic and Therapeutic Means for Kidney Stone Related Pathologies.

Selected Publications
  • Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F. ZNF687 mutations in severe Paget's disease of bone associated with giant cell tumor. Am J Hum Genet 2016 in press.
  • Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A, Gianfrancesco F*, Griffiths LR*. Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. Hum Mol Genet 2013, 22: 3654-3666 (*joint senior authors). 
  • Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes JD, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. Nat Genet 2011, 43:685-689.
  • Gennari L*, Gianfrancesco F*, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G. SQSTM1 gene analysis and gene-environment interaction in paget's disease of bone. J Bone Miner Res 2010, 25:1375-1384 (*joint first authors).
  • Gianfrancesco F, Esposito T, Ombra MN, Forabosco P, Maninchedda G, Fattorini M, Casula S, Vaccargiu S, Casu G, Cardia F, Deiana I, Melis P, Falchi M, Pirastu M. Identification of a novel gene and a common variant associated with in a Sardinian genetic isolate. Am J Hum Genet 2003, 72:1479-91.
  • The International Incontinentia Pigmenti (IP) Consortium. France (Smahi, A, Courtois G, Vabres, P, Yamaoka S, Solange Heuertz, Munnich A, and Israel A.) Germany (Heiss, NS, Klauck S, Kioschis P, Wiemann S and Poustka A.) Italy (Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A and D’Urso M.) U.K (Woffendin H, Jakins T, Donnai D, Stewart H and Kenwrick SJ.) USA (Aradhya S, Yamagata T, Levy, M, Lewis, RA and Nelson, DL.) Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature 2000; 405:466-72.
  • D'Esposito M, Ciccodicola A, Gianfrancesco F, Esposito T, Flagiello L, Mazzarella R, Schlessinger D, D'Urso M. A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation. Nat Genet 1996; 13:227-9.
  • Prof. Leonor Cancela, Faro, Portugal.
  • Prof. Laetitia Michou, Centre de recherche du CHUQ, Quebec City, Canada.
  • Prof. Stuart H Ralston, Western General Hospital, Edinburgh, UK.
  • Prof. Lyn Griffiths, Griffith University, Queensland, Australia.
  • Prof. Miikka Vikkula, de Duve Institute, Universitè catholique de Louvain, Brussels.
  • Prof. Douglas Marchuk, Duke University Medical Center - Durham, NC, USA.


Keywords: Bone and Mineral Disorders, Paget’s Disease of Bone.

Fernando Gianfrancesco

CNR Researcher (Ricercatore)

+39 081 6132255

Staff Members:

Giuseppina Divisato
Fellow (Borsista)

Marianna Fico
Undergraduate Student (Tesista)

Giorgio Fortunato
Undergraduate Student (Tesista)

Valentina Imperatore
Undergraduate Student (Tesista)

hilal kalkan
PhD Student (Dottorando)

Magdalena Kostrzewa
PhD Student (Dottorando)

Sara Martino
Undergraduate Student (Tesista)

Ciro Menale
External Collaborator

Sharon Russo
Undergraduate Student (Tesista)

Federica Scotto di Carlo
PhD Student (Dottorando)

Chiara Siniscalchi
External Collaborator

Emanuele Vizziello
Undergraduate Student (Tesista)