“Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS – related retinal effects” – Drs. Daniele Galatolo and Giulia De Riso

Août 31, 2024 | Recherche en 2024

The overall aim of this project is to identify the potential role of DNA methylation changes as biomarker of ARSACS progression. We previously demonstrated that patients affected by ARSACS showed changes in DNA methylation pattern, indicating that epigenetics might have a role in disease pathogenesis. These findings encouraged us to get deeper in this field and hypothesize that changes in DNA methylation could constitute a biomarker of disease progression. To achieve our aim, we will analyze the most biologically significant regions of the human methylome in a large group of patients in the context of patients' clinical history and disease progression. Grant: $49,500 Duration : one year Contact: Dr. Daniele Galatolo Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit IRCCS Stella Maris Foundation via dei Giacinti 2, 56128 Calambrone (Pisa) - Italy daniele.galatolo@fsm.unipi.it

Dr Giulia De Rosi

Co-project investigator