Retinal and eye abnormalities are among the clinical hallmarks in ARSACS and have been described since first reports. Those defects have been confined to an unexplored field by a molecular point of view, compared to those related to brain and cerebellum that have been obvious targets for in vitro and in vivo studies so far. The goal of this study is to investigate the molecular mechanisms underlying retinal and eye abnormalities using retinal pigment epithelium (RPE) cells as model, and to identify potential targets for future pharmacological tests in more complex systems like ARSACS animal models. Objectives of this projects are:

i) To generate a knock-out model of ARPE-19 cells, a widely used RPE cell line.

ii) To characterize the knock-out phenotype assaying main molecular defects so far observed in other ARSACS models, and test principal RPE-related features.

iii) To perform a multi-omics analysis to understand the altered mechanisms that drive to retinal abnormalities and to identify druggable targets potentially able to ameliorate, halt, or slow down the progression of ocular phenotype.

Grant: $46,000

Duration : one yea


Dr. Daniele Galatolo

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit

IRCCS Stella Maris Foundation

via dei Giacinti 2,

56128 Calambrone (Pisa) – Italy