PROGRESSIVE RETINAL ATROPHY (PRA)
research in the english springer spaniel
Thank you - 918 samples received (target 1000).
Sample recruitment for this study closed in June and we're pleased to report that we've received a fantastic 918 DNA samples from English Springer Spaniels. That's 99% of our target and enough samples for us to progress the research. A huge thank you to all who have participated in the study, we couldn't complete the research without the DNA samples so your contribution really is vital.
The next stage of research is to process all of the DNA and test each sample for the CORD1 mutation and the new modifier mutation, recently identified in another breed, which determines an early onset form of PRA. This will give us an idea of the frequency of both of these mutations in the English Springer Spaniel population, something which is not currently known.
Additionally, we are trying to determine if there are other genetic variants that cause PRA in English Springer Spaniels. Therefore, these samples will also be useful for further validation of any new variants found, which could help us develop modified, and more effective, DNA tests for PRA in the future.
Prize draw and test results -
The first 1,000 samples submitted to the AHT by 01 June 2016 will receive a free, confidential DNA test for the CORD1 mutation as well as being entered into a prize draw to win £100 Marks and Spencer’s vouchers. The winner will be contacted by the AHT at the end of the recruitment process.
CORD1 testing will proceed from June 2016, carried out in randomised batches and test results will be issued confidentially to owners in these batches. For this reason, we kindly ask you to be patient with receiving these test results. Eligible English Springer Spaniels include Kennel Club registered or non-registered dogs and those living or bred in the UK.
For more information and/or to submit your sample and for more details, please contact Rebekkah Hitti at firstname.lastname@example.org.
PRA research and DNA testing so far
PRA is a blinding disease for which there is no treatment, affecting over 100 breeds of dog. The English Springer Spaniel is one of the breeds affected by PRA and a mutation in the RPGRIP1 gene (CORD1 PRA mutation) was found as a causal mutation in the breed. This DNA test has been offered since 2007 to the English Springer Spaniel breed to help reduce the prevalence of the CORD1 mutation in the population.
Since the CORD1 PRA mutation was discovered, it has been difficult to explain why some genetically affected dogs lose their eyesight rapidly, at a very young age, yet others do not go blind until much later on, or even not at all throughout their lifetimes. There have also been some dogs clinically diagnosed with PRA that are not genetically affected for the CORD1 mutation, indicating that the English Springer Spaniel is one of a number of breeds carrying more than one genetic mutation for PRA.
Next stage of PRA research in the English Springer Spaniel
It is exciting to report that geneticists at the Animal Health Trust have recently identified a new candidate mutation for PRA in a different breed. This has been acknowledged as a potential “modifying” mutation that determines whether dogs affected for the CORD1 mutation will develop early onset PRA. We want to investigate whether this “modifying” mutation is present in the English Springer Spaniel breed at all. Additional potential candidate mutations are being identified as our research into PRA progresses, and these interesting variants need investigating further too.
In order to validate these mutations and investigate how common they are in today’s UK English Springer Spaniel population, the AHT needs DNA from 1,000 English Springer Spaniels, in the form of cheek swabs that can be collected by owners in their own home.
The DNA samples will not only enhance understanding of the mutations that cause PRA in the English Springer Spaniel breed, but additionally will provide a permanent DNA bank to contribute to future research in English Springer Spaniels.