The Animal Health Trust’s (AHT’s) Kennel Club Genetics Centre has released three new DNA tests that could improve the lives of so many pets. These new tests are for Progressive Retinal Atrophy (PRA) in Lhasa Apsos, Shaking Puppy Syndrome in Border Terriers and OculoSkeletal Dysplasia (OSD) in Northern Inuits.

Dr Cathryn Mellersh, Head of Canine Genetics at the Animal Health Trust, says, “Our team have been working really hard on these projects and a lot of work has gone on behind the scenes to bring these new tests to the market promptly after the mutations were discovered.

“The research has been spurred on by very engaged and proactive breeders who have been fantastic in helping us collect DNA samples from enough dogs to base the research upon. The tests for PRA4 and OSD3 highlight our expertise in identifying the genetic mutations for inherited eye diseases in the dog, and we are thrilled to be able to help fight inherited blindness through these new tests.”

PRA4 in the Lhasa Apso

The long-awaited DNA test for PRA in the Lhasa Apso – named PRA4 – was introduced at the City of Birmingham Championship show on 3 September.

A DNA test for PRA in Lhasa Apsos has been released

PRA can cause degenerative blindness in dogs and the percentage of carriers for this mutation in the UK Lhasa Apso population has been calculated at around 15 percent. This means approximately one in seven UK Lhasa Apsos is likely to be a carrier and one in 145 dogs is likely to be affected with this type of PRA.

Research was funded by the Lhasa Apso Breed Council, and both the UK and Europe Lhasa Apso communities, including members of the International Lhasa Apso Congress, submitted samples which helped researchers at the AHT to find the disease-causing mutation which has a recessive mode of inheritance.

Shaking Puppy Syndrome (or Spongiform LeucoEncephaloMyelopathy (SLEM)) in the Border Terrier

This devastating neurological disease causes severe tremors, predominantly in the hind limbs of affected puppies as soon as they start to walk. This creates a side-to-side shaking characteristic and in the most affected pups, it is fatal.

The University of Missouri has collaborated with the AHT and Wisdom Health to investigate this disease, and to identify the mutation responsible for Shaking Puppy Syndrome. The disease is a simple recessive trait and therefore has the potential to be controlled within the population with prompt and robust DNA testing.

The AHT DNA Testing Service will be the first DNA testing provider to offer this test in the UK and Europe: the DNA test is available to purchase now. Further research is ongoing, and the research will be published in a peer-reviewed journal upon completion.

Dr Mellersh continues, “With regards to the test for shaking puppy syndrome, it has been a privilege to be able to collaborate on this research which has been led by the University of Missouri. The key individuals involved in this research breakthrough are Dr. Ana Kolicheski and Dr. Gary Johnson from Missouri. The AHT was able to assist Missouri by supplying a number of DNA samples from affected cases in the UK, which helped to confirm the mutation discovered in the US is the same mutation segregating in affected Border Terriers in the UK.

“It can be very difficult to identify the gene linked to an emerging neurological disease such as this, but the result is fantastic and we are very pleased to be able to quickly offer the DNA test for the UK and European market. Now, there is no reason for any more Border Terriers to be born with shaking puppy syndrome, illustrating the enormous potential of DNA testing when implemented quickly and effectively across a breed.”

OculoSkeletal Dysplasia (OSD3) in the Northern Inuit 

OSD is a severe condition where dogs show a variety of skeletal malformations, including shortened limbs (dwarfism), and blindness at an early age. The disease looks similar to OSD in Labradors and Samoyeds but is genetically different, so has been named OSD3.

The AHT has launched a DNA test to detect the mutation which was discovered by a collaborative team of ophthalmologists and geneticists at the AHT. Northern Inuits, Utonagans, Tamaskan dogs and other wolf-a-like dogs can now be tested for this recessive mutation.

Although not an official Kennel Club registered breed, Northern Inuit breeders have been proactive in the research which led to this successful DNA test development. The test was launched at a special breed health day at the Animal Health Trust on 23 September, before the test was made available online on 28 September, and the AHT says the uptake of the test has been excellent so far. 

Dr Mellersh says, “Being able to launch three new DNA tests in such quick succession is testament to the close relationship the AHT has with dog breeding communities and also with veterinary specialists and other scientists with whom we collaborate.  And of course none of this would be possible without the generous and sustained support of the Kennel Club Charitable Trust.”

Caroline Kisko, Kennel Club Secretary, adds, “The launch of these three DNA tests is great news for both breeders and owners of these breeds and will greatly contribute to the protection and improvement of the health of these dogs.  It is great to see how engaged the breeders have been with the team at the Kennel Club Genetics Centre at the AHT, as a collaborative approach is always so important for the overall improvement of dog health.”

To buy one of these new tests, go to their website


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