In January of this year we published our research into an inherited eye disease called retinopathy with vitamin E deficiency (RVED) in English Cocker Spaniels. You may have heard of this disease before under a different name, perhaps central progressive retinal atrophy or retinal pigment epithelial dystrophy. Continue reading
On Friday March 21st, 2025, the Canine Genetics Centre team welcomed thirty enthusiastic delegates to the University of Cambridge’s West Hub building for their second Research Day.
Over the course of the day the delegates were treated to talks on the CGC’s inherited eye disease, idiopathic epilepsy and intervertebral disc disease research and how the CGC investigates new and emerging diseases. The talks were well received, with everyone asking lots of questions and really engaging with the researchers about the work that the CGC does. 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
The CGC Idiopathic Epilepsy (IE) project is progressing well. We are still collecting samples from affected dogs of any age and unaffected dogs aged 8 or older across the five breeds: Beagles, English Springer Spaniels, Giant Schnauzers, Hungarian Vizslas, and Irish Setters. The IE team is now collating and extracting DNA from around 250 new samples submitted since the project’s launch. The graph shows samples received and kit requests still awaiting return—the target is 200 per breed. Continue reading
The Cocker Spaniel is one of the most popular dog breeds in the UK and so it is unsurprising that a number of inherited diseases have been reported over the years in this breed including Progressive Retinal Atrophy (PRA), Retinal Dysplasia (RD) and Retinopathy with Vitamin E Deficiency (RVED). A DNA test for PRA (prcd) has been available for a long time and so this disease is now, fortunately, very rare in this breed. Very recently, the Canine Genetics Centre has also solved the cause of RVED in this breed and so, with the use of DNA testing, this disease should be easy to eradicate in a few generations. Continue reading
The CGC’s idiopathic epilepsy research project has taken on a real Vizsla vibe this week, as dozens of Vizsla owners from around the world have reached out to support our work. Continue reading
On November 14th 2024 Dr. Cathryn Mellersh, Head of the Canine Genetics Centre, gave an online presentation to our supporters and stakeholders. Cathryn started her presentation by summarising the areas of research that the CGC has been involved with over the last twelve months, including details of the impressive list of peer-reviewed publications that the team has produced. Continue reading
Our team at the Canine Genetics Centre are often contacted to collaborate with veterinary professionals and owners from around the world when it comes to challenging canine genetic problems. We recently received a communication from a Welsh Springer Spaniel breeder from Australia asking for our expertise regarding two wobbly puppies out of one litter of nine. Continue reading
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
