At Wisdom Panel, we’re passionate about using genetics to contribute to breakthroughs in pet health. That’s why we’re excited to share groundbreaking research from the University of Cambridge on progressive retinal atrophy (PRA), a form of inherited blindness, in English Shepherds. Conducted in collaboration with our own scientists, this study—and the development of a new genetic test—offers hope for future generations of the breed.
Understanding PRA in English Shepherds
Progressive retinal atrophy is a category of genetic disorders affecting the light-sensitive cells at the back of the eye. PRA is progressive, meaning the condition will worsen over time. Dogs with PRA experience a gradual deterioration in their vision, ultimately resulting in total blindness. To date, there is no treatment.
English Shepherds are one of many breeds in which PRA occurs. Wanting to understand what causes this devastating condition, Cambridge researchers solicited genetic samples from pet parents and breeders of English Shepherds. Using these samples and genotyping information provided by Wisdom Panel, they identified the specific gene mutation responsible for this form of PRA.
Further, researchers determined that PRA in English Shepherds is recessive. That means dogs must inherit two copies of the gene to develop the condition. Dogs with only one copy of the gene are carriers. They won’t develop PRA but can pass the mutation on to their offspring.
The role of genetic testing
With this critical information on the genetic cause of PRA in English Shepherds, the next step was to develop a DNA test to screen for the mutation.
By utilizing a test that can identify carriers, breeders can take proactive steps to manage their breeding programs and prevent PRA from being passed on to the puppies. So, while this condition cannot be cured, leveraging genetic testing to make informed breeding decisions can prevent it entirely in future generations.
The impact beyond English Shepherds
In addition to informing research on other dog breeds in which PRA occurs, this work may shed light on a similar progressive eye disease in humans. These new findings could, in turn, contribute to advancements in targeted gene therapy.
Final thoughts
This pioneering research demonstrates how genetic testing can make a positive impact on pet health. By working to eliminate inherited diseases in breeds like the English Shepherd, we’re paving the way for a future where more dogs—and potentially people—can enjoy healthier lives.
Additional resources
Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd
