DNA test developed for English shepherd disease
“It’s about prevention, rather than a cure, and it means a huge amount to the people who breed these dogs” – Katherine Stanbury.
Scientists have developed a DNA test for progressive retinal atrophy in English shepherd dogs after discovering the genetic mutation which causes it.
The inherited disease causes progressive degeneration of light sensitive cells at the back of the eye, leading to dogs becoming completely blind by the age of four or five. There is currently no treatment for it.
The new test will allow breeders to avoid passing on the genetic mutation to puppies, allowing the disease to be eliminated from the breed’s population.
The researchers from the University of Cambridge’s Department of Veterinary Medicine analysed DNA samples from six English shepherds which had progressive retinal atrophy and 20 which did not have the disease.
Using whole genome sequencing, the team were able to pinpoint the mutation responsible.
The genetic mutation is recessive, meaning it only causes the disease if it inherits a copy from both of its parents. When two dogs carrying the disease are bred together, there is a roughly one in four chance that the puppy will become blind.
The test has been made commercially available to help breeders avoid breeding dogs that will inherit the disease.
Katherine Stanbury, first author of the study, said: “For the price of a decent bag of dog food people can now have their English shepherd tested for progressive retinal atrophy prior to breeding.
“It’s about prevention, rather than a cure, and it means a huge amount to the people who breed these dogs. They no longer need to worry about whether the puppies are going to be healthy or are going to develop this horrible disease in a few years’ time.”
The study has been published in the journal Genes.
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Veterinary practices are being urged to help owners safely dispose of any unused and expired pet medicines - not just antibiotics - during November's Animal Medicines Amnesty. 
