PRA STUDY – WE NEED YOUR HELP!
Dr. Keiko Miyadera, a veterinary ophthalmologist and genetic researcher at the University of Pennsylvania, in collaboration with the ESS Foundation is offering complimentary PRA vision testing and DNA Blood draw, at the National, for our PRA research project and the DNA Bank at the University of Missouri. Please bring your dog’s pedigree, the U of Missouri DNA Bank forms, and fill out the PRA/Genetics Study online form. Testing will be available Wednesday through Friday and you can sign up at Show Central when you arrive. AKC registration or participation in the National Specialty is not required. Dogs with known DNA test status of “Affected” or dogs with any vision issue are encouraged to participate. Your dog could help us answer the question!
A mutation in the gene RPGRIP1 has previously been associated with PRA, a blinding retinal disease in dogs. This mutation runs in the ESSs and a DNA test has been available for over a decade. However, despite the mutation being rather common in ESSs, very few ESSs seemed to be clinically afflicted with PRA. The aim of the study is to find out if and how the DNA testing result correlate with vision and retinal health of ESSs. It is suspected that some dogs DNA tested as affected carry a modifier gene variant that rescues the dogs from going blind.
Duplicate samples will be sent to the University of Missouri for storage in the ESS Foundation DNA Bank. This valuable resource provides great opportunities for future research projects. Samples will be collected and submitted at no cost to the owner.