Anne Marie Kubacz, a resident of Jackson, New Jersey, highlights the impact of the popular Disney movie "Big Red" from 1962 on the Irish Setter breed. The movie's popularity propelled the Irish Setter to a Top 10 ranking in American Kennel Club registrations. However, Kubacz suggests that achieving such a high ranking came at a cost, implying potential negative consequences for the breed.
“By the early ’70s, there was an explosion of progressive retinal atrophy (PRA), which began as night blindness in the breed. Breeders unknowingly produced puppies that showed signs around 6 weeks of age and became blind by 1 to 2 years old,” says Kubacz, health chair of the Irish Setter Club of America (ISCA) Foundation. “It was an emotionally charged disease, and everyone wanted to do the right thing.”
In their quest for answers, the parent club collaborated with Gustavo Aguirre, VMD, PhD, a professor at the University of Pennsylvania School of Veterinary Medicine specializing in medical genetics and ophthalmology. Dr. Aguirre's research revealed that rod-cone dysplasia type 1-PRA, a condition found in young Irish Setters, was caused by a nonsense mutation in the cGMP phosphodiesterase β-subunit gene (PDE6B). This discovery was based on a study published in Science in September 1978, which highlighted the critical role of cGMP in the disease. The identification of the gene and mutation in 1994 enabled breeders to utilize a direct DNA test, allowing them to selectively breed carriers (dogs responsible for spreading the unwanted gene) with genetically normal dogs and choose genetically clear offspring for future breeding purposes.
“Because of rcd-1, our club has always been a proponent of supporting research to help advance the health of our breed as well as that of all dogs,” says Kubacz, one of eight ISCA representatives — more than any other club — who attended the 2019 AKC Canine Health Foundation National Parent Club Canine Health Conference sponsored by Purina.
“Although our club usually sends two or three people, our board members felt it was important for more of us to attend this year,” Kubacz says. “They felt it was important to learn about the outcomes of the Canine Health Foundation work we support and to help sort out the currently available genetic testing for rcd-1 and other diseases. We really are at a crossroads.”
The AKC Canine Health Foundation National Parent Club Canine Health Conference shed light on the significance of genetic testing for canine diseases, including the introduction of new panel DNA testing. These tests have implications for both breed diversity and the overall health of dog breeds. With concerns arising about the preservation of rare dog breeds and a decline in purebred dog breeding, these topics have gained increasing importance among parent clubs and breeders. Notably, the Irish Setter, once ranked in the Top 10, has now dropped to 77th in AKC breed registrations, further emphasizing the need for attention to these issues.
“The AKC Canine Health Foundation is committed to advancing the health of dogs through sound scientific research while also providing educational outreach for breeders, veterinarians and other dog professionals,” says Dr. Diane Brown, CEO of the Foundation. “Thanks to our partnership with Purina, we are able to hold the canine health conference every other year to bring these groups together with canine health researchers, including geneticists, to share and discuss complex matters such as DNA testing and breed diversity.”
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