12 February 2019
A study funded by national sight loss charity Fight for Sight has identified a new way of diagnosing corneal dystrophy.
The findings by researchers at University College London is also supporting the development of new targeted treatments for the sight-threatening condition.
Led by Dr Alice Davidson, researchers used a new method to sequence the gene mutation that is responsible for over three quarters of Fuchs Endothelial Corneal Dystrophy (FECD). They applied a new technique called No Amp Targeted Sequencing, which enabled the mutation to be sequenced accurately for the first time in patients.
It is reported that the technique is able to detect FECD in patients before symptoms present and will help the development of treatments that target the specific mutation.
The results could have wider implications for over 40 diseases, including Huntington’s disease, which is caused by a similar type of mutation, researchers highlighted.
Speaking about the findings, Dr Davidson said: “I am enormously excited by our application of this innovative method. The technique has already improved our understanding of FECD biology and hopefully, in the future, will help facilitate more effective diagnosis and treatment for patients.”
Director of research, policy and innovation at Fight for Sight, Dr Neil Ebenezer, added: “Currently some gene sequences are very difficult to faithfully recreate, so this new technique means researchers will be able to more accurately recreate gene sequences, improve diagnosis and help develop treatments. It’s particularly exciting as this technique also has potential applications for more than 40 other conditions.”
Image credit: Pixabay
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