Ivana Trapani (Telethon Institute of Genetics and Medicine, Pozzuoli, Italy and Dept. of Advanced Biomedical Sciences, University of Naples "Federico II”, Naples, Italy) has been invited by Deniz Dalkara to hold a talk on Tuesday 14 June, 2 p.m. , in the conference room of the UCL , 13 Rue Moreau.

This talk will be on "Developing novel tools for studying and treating Stargardt disease"


Stargardt disease type 1(STGD1), caused by mutations in ABCA4, is the most common form of inherited macular degeneration, for which no treatment is currently available. Direct gene replacement represents an attractive therapeutic option for STGD1. However, the large size of ABCA4 makes unfeasible its packaging in the golden-standard vectors for retinal gene therapy, the Adeno-Associated Viral vectors (AAV). Here, I will describe how in the last years we have overcome such limitation of AAVs by developing an innovative gene therapy approach, which expands AAV packaging capacity. Additionally, I will present the development of a novel pig animal model of STGD1, which we generated, given the large similarities between the swine and human retina, as a relevant pre-clinical model to investigate the efficiency of gene therapy approaches.