Analysis showing an association between CPT1A and cataracts in Northern breeds published

The Canine Genetics Centre has a successful track record investigating the genetic basis of inherited eye diseases in dogs. However, some eye diseases have been more challenging to investigate than others, and cataracts have been no exception. Many breeds are predisposed to develop inherited forms of cataracts, but their inheritance is generally more complex than for other eye diseases, such as progressive retinal atrophy, so identifying underlying genetic risk factors is harder. Continue reading

First genetic investigation of idiopathic epilepsy in the Italian Spinone published

We have recently published our preliminary genetic investigation of idiopathic epilepsy in the Italian Spinone breed in the peer-reviewed, open access journal, PLOS One.

Jenkins CA, De Risio L, Lophatananon A, Lewis TW, Foster D, Johnson J, Lohi H, Mellersh CS, Ricketts SL. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5;20(3):e0315546. doi: 10.1371/journal.pone.0315546.

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Paper detailing Retinopathy with vitamin E deficiency (RVED) in English Cocker Spaniels has been published

In collaboration with James Oliver, head of ophthalmology at Dick White Referrals, we have been researching retinopathy with vitamin E deficiency (RVED) in the English Cocker Spaniel (ECS) for a number of years. It has been a challenging project, so we are over the moon to report that we have identified the variant associated with the disease, and all of our findings have now been published in G3 Genes|Genomes|Genetics.

Oliver, J. A. C., Stanbury, K., Schofield, E., McLaughlin, B., & Mellersh, C. S. (2025). A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog. G3 Genes|Genomes|Genetics. https://doi.org/10.1093/g3journal/jkaf016

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First genetic investigation of a movement disorder in Norwich Terriers published

Norwich Terrier GWAS PxDWe have recently published our preliminary genetic investigation of paroxysmal dyskinesia (PxD), a movement disorder, that is prevalent in the numerically small Norwich Terrier breed and for which no cause has been established to date in this breed. Our paper has been published in the peer-reviewed, open access journal, Animal Genetics.

Jenkins CA, De Risio L, Dietschi E, Leeb T, Rytz U, Schawalder P, Schoenebeck JJ, Mellersh CS, Ricketts SL. A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich TerrierAnim Genet. 2024 Oct 12. doi: 10.1111/age.13479

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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