A Focus on Eyes

Last month we told you about an eye disease variant we recently identified in the English Shepherd Breed. Today we wanted to give you a bit more information on the research we do into inherited eye diseases (IED), all of which is now carried out under the CRIEDD (Consortium to Research Inherited Eye Diseases in Dogs ) project. Continue reading

Canine Genetics Centre researchers collaborate with specialist veterinary neurologist to identify genetic cause of dog’s illness.

Most of the researchers who work in the Canine Genetics Centre (CGC) are geneticists and we regularly collaborate with colleagues from the veterinary profession to ensure that we fully understand the diseases that we investigate, and that the dogs we include in our investigations have been robustly diagnosed. Continue reading

Update on Primary Hyperparathyroidism in Keeshonds

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.

Epilepsy programme update

Alongside our current genetic investigations of idiopathic epilepsy in the Border Collie and Italian Spinone, we are embarking on an exciting new study starting this year to investigate the genetics of epilepsy in five new breeds – the Beagle, English Springer Spaniel, Giant Schnauzer, Hungarian Vizsla and Irish Setter. Continue reading

Exercise induced paroxysmal movement disorder in Weimaraners

The Kennel Club Genetics Centre has an archive of over 40,000 DNA samples that has been collected over decades.  This collection, which contains DNA from dogs of nearly two hundred different breeds of dog, has played a central role in all the KCGC’s successful research projects.  But it has also contributed to research done by teams of researchers from other institutions. Continue reading

Multiocular defect in Old English Sheepdogs

Multiolcular defect in Old English SheepdogsIn recent years multiple dogs of the Old English Sheepdog (OES) breed have been diagnosed with an ocular (eye) disease that can affect multiple parts of the eye and is therefore known as multiocular defect (MOD). Most affected dogs suffer from cataracts, but additional abnormalities can include any of the following:

  • microphakia (small lens),
  • lens coloboma (a hole in the lens),
  • macrophthalmos (enlarged globe),
  • retinal detachment,
  • vitreopathy and
  • retinal degeneration

Continue reading