The Canine Genetics Centre (CGC) is enormously proud of its publication record. Since the year 2000 the CGC team members have published well over 100 peer-reviewed papers, the majority in open-access scientific journals with global readership. However we are often asked “why publish our results and give away our secrets”, so this week we are going to answer that very question. Continue reading
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
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.
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
We 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 Terrier. Anim Genet. 2024 Oct 12. doi: 10.1111/age.13479
Back in March, CAGT launched a DNA test for progressive retinal atrophy (PRA) in the English Shepherd Dog breed (PRA6). Since then we have been working on a manuscript detailing our research and we are very pleased to announce that it was published last Sunday in Genes.
Stanbury K, Schofield EC, McLaughlin B, Forman OP, Mellersh CS. Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd. Genes. 2024; 15(7):952. doi: 10.3390/genes15070952
The Canine Genetics Centre has had an important study published, in collaboration with Wisdom Panel, on the genetics of progressive retinal atrophy in dogs. The paper describes the frequency of two genetics variants, called RPGRIP1ins44 and MAP9del, in 132 different breeds of dog. Both the variants were originally identified in Miniature Longhaired Dachshunds, and both are known to modify the development and progression of PRA. Continue reading
In 2017, as part of the Give a Dog a Genome project, we sequenced the genome of an Old English Sheepdog (OES) that had been diagnosed with hereditary cataracts under the BVA/KC/ISDS Eye Scheme. This was the start of a project that turned out to be a lot more complex than we initially thought it would be, and that was disrupted by both covid and our move from the Animal Health Trust to the University of Cambridge, but that we finally concluded at the end of last year. Continue reading
