Scientists at Trinity College Dublin (TCD) have pinpointed a genetic target which may have a key role to play in the treatment of many forms of blindness.

Developing therapies for genetic forms of blindness is challenging, however the team has found that a specific gene - SARM1 – is a key driver in the damage that ultimately leads to impaired vision and sometimes blindness.

In a disease model, the scientists showed that deleting this gene protects vision after a chemical kick starts the chain of dysfunction that mimics a host of eye conditions.

In other words, therapies that target the suppression of SARM1 activity may offer new options for treating a number of diseases that can have a major impact on quality of life. Currently, there are no treatment options for many of these diseases.

Details of these findings have been published in the International Journal of Molecular Sciences and according to the paper’s first author, Laura Finnegan, a PhD Candidate at TCD, impaired vision and blindness “is extremely debilitating for millions of people across the globe”.

“In response to injury, SARM1 contributes to a process that leads to the degeneration of specialised cells and their axons in the eye. When this happens it essentially means that the optic nerve can no longer deliver signals from the eye to the brain,” she explained.

According to the paper’s senior author, Prof Jane Farrar of TCD, another important finding was that visual function was still preserved when reassessed four months after SARM1 was deleted. This indicates that the benefits remain over time.

“This raises hopes that a targeted therapy delivered early enough may offer people diagnosed with an ocular neuropathy long-lasting preservation of sight.

“We have a way to go before such a therapy is available, but this work represents a significant step, sheds light on the pathway forward and offers hope that a range of diseases involving the optic nerve - from maternally inherited conditions such as Leber Hereditary Optic Neuropathy to the more commonly known glaucoma - will one day be treatable via such therapies,” Prof Farrar said.

The research is the result of a collaboration between Professor Farrar’s lab in TCD’s School of Genetics and Microbiology and that of Professor Andrew Bowie’s in the School of Biochemistry and Immunology in the Trinity Biomedical Sciences Institute. 

The paper pubished in the International Journal of Molecular Sciences can be viewed here.