Primary Hyperparathyroidism (PHPT) in Keeshonds 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 variant(s) that cause or contribute to PHPT in the breed, develop a DNA test in collaboration with Canine Genetic Testing and publish the research in a peer-reviewed publication; thereby enabling other DNA testing labs to offer the test should they wish to.
How can you help?
The Keeshond community can assist in this study by submitting samples from key dogs and by providing PHPT-specific information for samples they have already submitted.
Key dogs include:
- Dogs that are clinically affected with 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 PHPT
- Dogs over the age of 8 years that are still apparently healthy
To contribute samples to this study, you can request a sample collection (buccal swab) kit here.
Update PHPT-specific information
A very short PHPT-specific survey is available that will also help our research. You can complete this survey here.
Queries about this study can be addressed to Dr Louise Burmeister.