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Sandro Banfi

Sandro Banfi, M.D. is an Associate Investigator at the Telethon Institute of Genetics and Medicine (TIGEM).

Short CV

  • M.D, University of Naples, 1989
  • Board Certified in Neurology, University of Naples, 1993
  • Postdoctoral Fellow, Baylor College of Medicine, 1994


CV of Sandro Banfi [pdf]

Scientifc Interest

This laboratory aims at an efficient exploitation of public sequence and gene expression databases to identify genes, either coding or non-coding, of high biological interest and possibly involved in the pathogenesis of human eye inherited disorders.


  • Association for Research in Vision and Ophthalmology (ARVO)
  • American Society for Human Genetics
Sandro Banfi
Sandro Banfi

Research Group

TIGEM / Sandro Banfi

Telethon Institute of Genetics and Medicine (TIGEM) / Sandro Banfi


Telethon Institute of Genetics and Medicine (TIGEM)

Via Pietro Castellino, 111
80131 Naples

Phone: +39-081-6132228
Fax: +39-081-5609877

Email: banfi(AT)

Key Publications

  1. Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VA, Konkle B, Stone E, Sun J, Jacobs J, Dell’Osso L, Hertle R, Ma J, Redmond TM, Zhu-X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Fraser Wright J, Volpe NJ, Wellman McDonnell J,  Auricchio A, High KA, Bennett J.
    Vision in a Safety Study of Gene Transfer for Leber Congenital Amaurosis.
    N Engl J Med. 2008 May 22; 358(21):2240-8. Epub 2008 Apr 27
  2. Trifunovic D, Karali M, Campogampiero D, Ponzin D, Banfi S, Marigo V.
    A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas.
    Invest Ophthalmol Vis Sci. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2330-6.
  3. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S.
    “Clinical and molecular genetics of Leber’s congenital amaurosis (LCA): a multicenter study of Italian patients,
    Invest Ophthalmol Vis Sci., 48(9): 4284-90, 2007.
  4. Karali M,  Peluso I, Marigo V, Banfi S. Identification and characterization of microRNAs expressed in the mouse eye.
    Invest Ophthalmol Vis Sci., 48(2): 509-15 (2007).
  5. Ziviello C, Simonelli F,  Testa F,  Anastasi M, Bianchi Marzoli S, Falsini B,  Ghiglione D, Macaluso C, Manitto MP,  Garrè C,  Ciccodicola A, Rinaldi E, and Banfi S. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
    Journal of Medical Genetics, 2005 Jul;42(7):e47
  6. Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A, Banfi S. Natural antisense transcripts (NATs) associated with genes involved in eye development.
    Hum Mol Genet. 2005 Apr 1;14(7):913-23.
  7. Boccia A,  Petrillo M,  di Bernardo D,  Guffanti A,  Mignone F,  Confalonieri S,  Luzi L,  Pesole G,  Paolella G,  Ballabio A and  Banfi S.
    DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
    Nucleic Acids Research, 2005, 33(Database Issue):D505-D510.
  8. Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi  S.
    Identification and characterization of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

    European Journal of Human Genetics, 2003, 11: 155-162.
  9. Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A and Banfi S.
    Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibers and eye coloboma
    Development, 2002, 129: 805-813.
  10. Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S.
    A novel homeobox gene, vax2, controls the patterning of the eye dorso-ventral axis. 
    Proceedings of National Academy of Sciences USA 96(19): 10729-10734, 1999.

Research Groups