Inherited Blindness May Have Met Its Match
In her earlier years, Shola, an English Shepherd Dog, served with the Edale Mountain Rescue Team in the U.K., aiding injured and stranded hikers. Unfortunately, Shola’s service was cut short due to progressive retinal atrophy (PRA), a genetic condition that led to her losing her sight.
While Shola’s condition was untreatable, recent advancements in research have led to the development of a gene test that could prevent PRA from being inherited by future puppies. This breakthrough has the potential to eventually eradicate PRA from dog populations altogether.
Dr. Katherine Stanbury, a veterinary researcher at the University of Cambridge and the study’s lead author, explained that PRA is irreversible once a dog’s vision begins to deteriorate. Owners may not notice the condition until their dog is middle-aged, by which time breeding may have already occurred.
Stanbury’s team identified the gene responsible for PRA by comparing DNA samples from six affected English Shepherds and 20 unaffected ones. The Cambridge team, which already assists dog owners with breeding practices to avoid genetic disorders, developed a commercial mouth-swab test to detect the presence of this gene.
The gene associated with PRA is recessive, meaning that both breeding dogs must carry the gene for it to manifest in their puppies. Given the high level of inbreeding in dogs, the likelihood of this gene pairing is relatively high compared to other species. Dr. Cathryn Mellersh, a senior author of the study, highlighted that testing for PRA is now affordable and straightforward, allowing breeders to avoid producing puppies with this condition.
This research not only aids in the prevention of PRA but may also provide insights into similar human conditions, such as retinitis pigmentosa. Meanwhile, although Shola is no longer on the rescue team, her daughters, who are free from PRA, have successfully completed their training with Mountain Rescue Search Dogs England. Notably, one of her daughters recently saved a man’s life, continuing the legacy of service that Shola started.
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