Scientists at the Kennel Club Genetics Centre at the Animal Health Trust are investigating the genetic causes of both Primary Hyperparathyroidism (PHPT) and Progressive Retinal Atrophy (PRA) in the Keeshond breed. The AHT, based in Newmarket, Suffolk (in the UK) is a relatively small, but world-renowned and highly respected canine genetics research team, with a proven track record of identifying many disease-causing mutations. We are proud of the work that we do, but also of the successful collaborations we have with other veterinary and genetic experts in the field, from all over the world.
PRA in the breed is a relatively new discovery, and is therefore not currently considered a major problem. However, our aim is to identify the causal mutation and develop a DNA test to prevent it from becoming a much larger problem in the future. PRA has traditionally been one of our areas of expertise, and we have identified the mutations that cause multiple forms of PRA, including cord1 in Dachshunds, PRA1 and PRA2 in Golden Retrievers, PRA3 in Tibetan Spaniels, and RCD4 in Gordon Setters and other breeds, all of which have been published in peer-reviewed scientific journals and for which DNA tests are available.
PHPT in the breed presents a slightly unusual obstacle in that a DNA test has been available in the USA for a number of years. However, the research underlying that mutation has never been published in a peer-reviewed scientific journal, and the test is only available from a single lab. As such, breeders and scientists really have no way of knowing what they are actually testing for, and the process of testing is more laborious and costly than it could be. Working alongside Dr Barbara Skelly (University of Cambridge), our aim is to independently identify the genetic mutation that causes PHPT in the breed, develop a DNA test of our own and publish the research in a peer-reviewed publication; thereby enabling other DNA testing labs to offer the test should they wish to.
For both PHPT and PRA, the Keeshond community can assist in these studies by submitting samples from key dogs i.e.:
- Dogs that are clinically affected with PRA or PHPT,
- Dogs that have tested positive for PHPT with the current DNA test, whether currently clinically affected or not,
- Dogs closely related to those affected with PRA or PHPT
- Dogs over the age of 8 years that are still apparently healthy, and for PRA in particular, those that have had their eyes examined by a veterinary ophthalmologist who found no ocular abnormalities.
Owners are welcome to communicate directly with the AHT. All communication and information provided regarding samples submitted will be treated in the strictest confidence, and no Keeshond dog or owner information will be shared with anyone outside of the AHT research team.