News

Born to run (with a Border Collie)

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In this week’s feature, we talk to Jim Johnson, Idiopathic Epilepsy Study Coordinator at the Canine Genetics Centre (CGC). Jim joined the team over three years ago, not long after its move to the University of Cambridge. Working closely with Dr Sally Ricketts and Dr Chris Jenkins in the idiopathic epilepsy team, Jim liaises with dog owners, breeders, and vets to encourage participation in epilepsy research. We spoke to Jim about his work and how his Border Collie, Nell, ensures he never sits still for long. Continue reading →

First genetic investigation of idiopathic epilepsy in the Italian Spinone published

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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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Spotlight on the Keeshond

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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 →

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

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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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Presentation about the CGC Biobank – What? Uses? Why?

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The CGC’s DNA sample collection is unique. Developed over the last quarter of a century, and comprising DNA samples from over 42,000 different dogs, it has been used to identify over 30 different mutations that cause inherited diseases in well over 40 different breeds. But beyond its historic use, the CGC’s sample collection is the foundation for all the CGC’s current research projects, including our investigations of inherited eye diseases, idiopathic epilepsy and intervertebral disc disease. Continue reading →

High five to our five epilepsy breeds – but we’re not done yet!

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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 →

Spotlight on the Italian Spinone

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This is the second in our series of ‘Spotlight’ articles where we focus on a breed that the Canine Genetics Centre (CGC) has worked closely with over many years to investigate the inheritance of disorders that represent a challenge to their health.  This time we describe our work with the Italian Spinone breed community to understand the underlying genetics of two devastating diseases, one of which has now had a DNA test available for over 15 years that has been successfully used to reduce the number of affected dogs born with this debilitating disease. Continue reading →

Crufts 2025: The world’s greatest dog show

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Members of the Canine Genetics Centre team have attended Crufts, the World’s greatest dog show, for as long as any of us can remember. Crufts has always been a great opportunity for us to meet up with breeders, owners and Breed Club representatives with whom we have been working closely, to update them on their various research projects and to discuss new potential areas of research. And customers of our DNA testing service, Canine Genetics Testing (CAGT), have also been able to purchase DNA tests at Crufts, typically at a special discounted rate. Continue reading →

The Canine Genetics Centre’s unique DNA sample collection

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Unique is a word that is often overused. But when it comes to discussing the Canine Genetics Centre’s collection of DNA samples, which dates back to the early 1990s, we are confident that use of the word unique is justified. The CGC is fortunate to have a dedicated member of staff, Bryan McLaughlin, who manages this unique canine resource and has been a member of the CGC for 19 years. Continue reading →

Multiocular Defect in the Cocker Spaniel – The Next Challenge

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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 →