Genetic eye diseases are the most frequent cause of blindness in children and adults in the developed world and represent a very heterogeneous group of disorders both from the clinical and the molecular point of view. To date, more than 190 loci causing retinal diseases (RD), such as retinitis pigmentosa (RP), and other neuroretinal inheritable conditions leading to eye diseases have been listed. Molecular genetic studies revealed that mutations in more than 120 chromosomal genes can lead to RD, including RP. Pathogenic mutations were identified in genes that have an important function in photoreceptor cells or adjacent cell layers but also in novel genes isolated by positional cloning. Little is known how mutations in these genes lead to premature cell death in retina and the mechanisms of pathogenesis are poorly understood. The molecular elucidation of RD and genotype/phenotype correlations may serve as a key to understanding the pathogenesis and, perhaps, provide a better tool for use in clinical diagnosis, prognosis, and genetic counselling. Our results strongly suggest the presence of additional unidentified genes that are involved in the pathogenesis of RP.

• 2007−To date, Naples, University of Naples “Parthenope”, Professor of Genetics
• 2001−To date, Naples, Institute of Genetics and Biophysics "A: Buzzati-Traverso", CNR, Senior Researcher.
• 2001−To date, Naples, Institute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Group leader.
• 2000−2001, Naples, Institute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Researcher.
• 2000−2004, Naples, IGB-TIGEM Sequencing Core, Supervisor.
• 1996−2000, Naples, International Institute of Genetics and Biophysics, CNR, Researcher (Temporary position).

• 1981−1987, Naples, University Federico II of Naples, Course in Biological Sciences.
• 1985−1987, Naples, IIGB, CNR, Predoctoral research training under the supervision of Dr. M.D'Urso.
• 1987, Naples, University Federico II of Naples, Degree in Biological Sciences with full marks and honours.
• 1993−1996, Modena, University of Modena, PhD course in Morphological Science.

• Organization and characterization of human Xq28 genes.
• Positional sequencing and isolation of RPGR gene involved in X-linked Retinitis pigmentosa.
• Identification and characterization of retina specific genes.
• Mutational and transcriptional analysis of PPARG gene in human colon cancer.

• 1989, 1990, 1992, CNR fellowship on the project: "Mapping and sequencing of the human genome" (1 year, each).
• 1993, AIRC long term fellowship.

• 1987, Bethesda Md. USA, NICHHDD, NIH, Postdoctoral fellow in the laboratory of Prof. Michael Zasloff.
• 1989, St.Louis Mo. USA, School of Medicine Washington University, Visiting Research Associate.
• 1991, South San Francisco Ca. USA, Genetech Inc., Visiting Scientist Specialist.
• 1992−1993, Foster City Ca. USA, Applied Biosystem Inc., Visiting Scientist.

• Costa V, Casamassimi A, Esposito K, Villani A, Capone M, Iannella R, Schisano B, Ciotola M, Di Palo C, Corrado FC, Santangelo F, Giugliano D, Ciccodicola A. Characterization of a novel polymorphism in PPARG regulatory region associated with type 2 diabetes and diabetic retinopathy in Italy. J Biomed Biotechnol. 2009;2009:126917. Epub 2008 Dec 25.
• Salvatore P, Casamassimi A, Sommese L, Fiorito C, Ciccodicola A, Rossiello R, Avallone B, Grimaldi V, Costa V, Rienzo M, Colicchio R, Williams-Ignarro S, Pagliarulo C, Prudente ME, Abbondanza C, Lamberti F, Baroni A, Buommino E, Farzati B, Tufano MA, Ignarro LJ, Napoli C. Detrimental effects of Bartonella henselae are counteracted by L-arginine and nitric oxide in human endothelial progenitor cells. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9427-32. Epub 2008 Jun 30.
• Ross MT, et al. Ciccodicola A, et al. The DNA sequence of the human X chromosome. Nature. 2005; 434:325−37.
• Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exon in X−linked retinitis pigmentosa. Nat Genet. 2000; 25:462−6.
• Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israel A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Genomic rearrangement in NEMO impairs NF−kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000; 405:466−72.

• Rando Allikmets, Columbia University, New York, USA
• Carmen Ayuso, Fundacion Jimenez Diaz, Madrid, Spain
• Alberto Auricchio, TIGEM, Naples, Italy
• Sandro Banfi, TIGEM, Naples, Italy
• Frans P. Cremers, University of Nijmegen, Netherlands
• Christina Fasser, Retina International, Zurich, Switzerland
• Paolo Gasparini, IRCCS Burlo Garofolo, Trieste, Italy
• Lyn Griffiths, Griffith University Gold Coast, Australia
• Elio Marciano, University of Naples, Italy
• Claudio Napoli, Second University Naples, Italy
• Paola Salvatore, Federico II University, Naples, Italy
• Francesca Simonelli, Federico II Unversity, Naples, Italy
• Alan F. Wright, MRC, Edinburgh, UK

Amelia Casamassimi Incarico di collaborazione  
Valerio Costa PostDoc  
Teresa Esposito CNR Researcher (Ricercatore)  
Annamaria Franze' CNR Researcher (Ricercatore)  
Fernando Gianfrancesco CNR Researcher (Ricercatore)  
Sara Magliocca PhD Student (Dottorando)  
Maria Rosaria Ambrosio PhD Student (Dottorando)  
Margherita Scarpato PhD Student (Dottorando)  
Francesca Letizia PhD Student (Dottorando)  
Roberta Esposito Undergraduate Student (Tesista)  
Marianna Aprile PhD Student (Dottorando)  
Mariarosaria Figliolia Administrative Officer (Collaboratore di Amministrazione)  
Federica Maria Maistrello Undergraduate Student (Tesista)