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Former Rescue Dog Helps Develop Genetic Test to Eradicate Eye Disease

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Rithani

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3 min read

22 Jul, 2024

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A retired mountain rescue dog named Shola has played a vital role in developing a genetic test to eliminate a debilitating eye condition from her breed. Shola, an English shepherd, suffers from progressive retinal atrophy (PRA), an inherited disease leading to blindness. PRA affects over 100 dog breeds and has no treatment.


Katherine Stanbury, lead author of the University of Cambridge study, revealed that Shola began having vision issues at four years old. Diagnosed with PRA, it was later discovered her brother also had the condition. Stanbury's team identified the specific genetic variant responsible for PRA in English shepherds and developed a £48 (INR 5185) DNA test to detect the gene.


This test can determine if dogs carry none, one, or two copies of the PRA variant. Though PRA variants are usually breed-specific, the team plans to screen any dog with inherited eye diseases for this new variant.


The research started when Shola and her brother were flagged by their breeder. Published in Genes, the study involved whole genome sequencing of PRA-affected and unaffected English shepherds, leading to the discovery of the PRA variant. The test will help identify PRA early, preventing affected dogs from breeding and potentially eradicating the disease from the breed.


Stanbury emphasized the importance of genetic diversity, noting that carriers can still breed with clear dogs. The father of Shola's offspring was tested, ensuring her descendants wouldn't develop PRA. Two of Shola's daughters have completed mountain rescue training, and one of her sons is a therapy dog.


"One of the rescue dogs recently saved a man's life," Stanbury said. "The owners now know that none of those dogs will go blind, preserving their valuable training."

This breakthrough offers hope for the future health of English shepherds and other breeds affected by PRA.

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