Advanced optical genome mapping (OGM) has been used to identify how vision-loss disease Fuchs Endothelial Corneal Dystrophy (FECD) progresses and potential therapeutic developments.
A study, published in eBioMedicine journal and led by the UCL Institute of Ophthalmology, revealed that understanding the mechanisms behind FECD is key to developing new treatments for FECD and other diseases related to genetic mutations.
Findings of those with FECD highlighted the significance of the extreme genetic instability on a molecular level that enables a high frequency of mutations, which was heavily impacted by both patient age and size.
It said that a key factor in developing FECD is the expansion of a specific DNA sequence within the TCF4 gene, called CTG18.1, and researcher aimed to develop further experiments to examine how and when this genetic change happens.
Lead author Christina Zarouchlioti said: 'We are excited to share these results and the impact they might have for the future of patients with FECD. We also know that the study’s implications extend beyond FECD, positioning it as a valuable model for understanding a growing number of other diseases, such as Huntington’s disease and myotonic dystrophies, which share similar mechanisms.'
