Fighting a genetic eye disease that leads to progressive blindness: Schnyder’s corneal dystrophy (SCD). This is the aim of Massimo Santoro‘s research project, who is professor at University of Padua and Principal Investigator at Advanced Biomedical Research Foundation – VIMM. Telethon Foundation has guaranteed its team a loan of 240 thousand euros for the three-year period 2021/2024.
Schnyder’s corneal dystrophy (SCD) is a rare genetic disease. It’s caused by several autosomal dominantly inherited mutations in UBIAD1 gene: only one copy of the mutated gene is enough to develop the disease. Its onset usually occurs within the age of 40 and causes an abnormal deposition of cholesterol in the cornea. In this way, the eye progressively becomes opaque until it leads to complete blindness.
At the moment it isn’t possible to eradicate the genetic mutation. The only way is proceeeding by surgery. There are two techniques: cornea transplant (more invasive) or laser treatment. However, no intervention is decisive; the disease can recur.
The goal of Santoro’s team is therefore twofold. It aim’s to investigate the molecular mechanisms underlying the disease and to develop a more effective therapy. “Knowing the functions of UBIAD1 protein, both when normal and mutated, is fundamental to understand the disease and define the correct therapeutic approach – says Professor Santoro – Our research group aims to use animal models and tissues derived from SCD patients to study the pathological molecular mechanisms resulting from the mutations of the UBIAD1 gene. The goal is to understand the cellular defects underlying this pathology in humans. These results will constitute the knowledge on which to base the development of adequate therapeutic strategies (pharmacological, genetic and cellular) to treat patients with SCD in the future. “