In 2010 we published our findings from a collaborative research project with our colleagues at the University of Missouri, into primary lens luxation (PLL) in Lancashire Heelers, Miniature Bull and Jack Russell Terriers. The causative variant for the condition was found to be a single nucleotide variant (SNV) in the ADAMTS17 gene. Further research found the variant to segregate in a number of additional dog breeds. Continue reading
As part of our CGC Friends scheme, we launched a special yearly award, sponsored by Canine Genetic Testing (CAGT) – the Friends of the CGC Health and Welfare Award. All friends can nominate anybody that they know personally, or know of, that makes a positive impact on the health and/or welfare of dogs. This year’s winner was announced at our recent Research Day as Kathryne Wrigley. 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
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
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.
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
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’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
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
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
