A novel disease in the Segugio Italiano dog breed – our search for the causal variant

Our research project dedicated to inherited eye disease (IED) in dogs, CRIEDD, often sees us work in close collaboration with veterinary ophthalmologists. When they see novel diseases, or a disease emerging in a new breed of dog, they will send us DNA samples so that we can work together to identify the genetic cause. Continue reading

The Canine Genetics Centre team never gives up – an update on our Wobbly Welshies research

In November of 2024 we shared details of research that the Canine Genetics Centre had started, in collaboration with dog breeders and clinicians in Australia, to identify the genetic cause of an apparently novel inherited neurological disorder in Welsh Springer Spaniels. Continue reading

When your life passions and job align – meet our resident “crazy dog lady!

This week we turn our attention to another of our valuable team members, our Bioinformatician and “crazy dog lady”, Ellen Schofield. Ellen joined our group back in 2016 when we were still based at the Animal Health Trust and moved with the team to Cambridge in 2021. We talked to Ellen about her work, and learn about how she came to find a job that, simply put, seems made for her! Continue reading

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

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

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

Collaboration across the world to identify genetic cause for wobbly puppies

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

BIG data gives us BIG results but also BIG headaches!

A couple of weeks ago Bryan gave you an overview on our sample database, but how do we get from those samples to creating a DNA test for breeders to use? Well, it’s a long process and this week we are going to explain how we use whole-genome sequencing (WGS) to find plausible candidate variants which are then taken into our lab for validation. Continue reading