Neuro-ocular syndrome: a new research project to understand its origin

The aim of a new research project led by Giovanni Perini, professor at the Department of Pharmacy and Biotechnology at the University of Bologna, is to understand the mechanism for the development of neuro-ocular syndrome (NOC), a condition associated with defects of varying severity in the structure of the eye. The project is financed by the third edition of the Telethon-Cariplo Call for Applications.

The initiative, promoted by the Cariplo and Telethon Foundations, is dedicated to clarifying the still unknown aspects of the human genome that may be responsible for rare diseases. The project financed at the University of Bologna is one of 14 winners of the new call for applications, for a total of €3.2 million awarded, and 22 research groups involved.

Neuro-ocular syndrome (NOC) is characterised by mutations in the PRR12 gene, which is expressed in some neurons of the eye and brain. By analysing the transcript of the blood cells of patients with the disease, researchers at the University of Bologna will try to clarify the effects of the identified gene variants.

Genomic engineering techniques will be used to create cell models with PRR12 mutations to understand what happens in the patients' cells. Advanced technologies will be used to understand whether, and where, PRR12 binds DNA in the genome. This will help understand the function of the gene itself in the nucleus and how it interacts with nuclear proteins, paving the way for potential therapeutic treatments.