Tag: Primary Hyperparathyroidism (PHPT)

Spotlight on the Keeshond

Posted on | by Canine Genetics Centre

At the beginning of March 2025 the Canine Genetics Centre launched a genetic test for primary hyperparathyroidism (PHPT) in Keeshonds. The research underpinning the new test was achieved in collaboration with Professor Claire Wade (University of Sydney), Professor Kerstin Lindblad-Toh (Uppsala University and the Broad Institute), Dr Barbara Skelly (University of Cambridge) and dedicated members of the Keeshond community, without whom the work would not have been possible. The journey to develop a DNA test for PHPT started way back in 2000, with a special dog called Anni, and in for month’s spotlight article Anni’s owner and breeder, Jane Saunders, very kindly tells the story in her own words: Continue reading →

Update on Primary Hyperparathyroidism in Keeshonds

Posted on | by Canine Genetics Centre

We are still trying to identify the genetic change that causes Primary Hyperparathyroidism (PHPT) in the Keeshond. It is proving to be much more challenging than initially anticipated, which may explain, at least in part, why the original research was never completed and published.

As part of the original Give a Dog a Genome project, we used short-read based Whole Genome Sequencing (WGS) to sequence a PHPT case and an epilepsy case (as a PHPT control). We have sequenced a further case and a progressive retinal atrophy (PRA) case as a control, giving us two cases and two controls. These data have enabled us to independently identify the chromosome that harbours the causative genetic mutation for PHPT, however we have been unable to precise variant.

We have recently been awarded a small grant from CamVet to undertake long-read sequencing of the candidate region in an attempt to identify additional variants. Preliminary data suggests that the region of interest is highly structurally complex and very difficult to interrogate, but sequencing and data analysis is ongoing.