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.
The puppies in question were markedly different from their litter siblings, being wobbly and rolling in the pen since birth. These puppies underwent extensive investigations at the Animal Referral Hospital Canberra without finding an obvious cause.
The team at the Canine Genetics Centre, with the collaboration of Bruno Lopes, a veterinary neurologist doing a part-time PhD at Cambridge Vet School, suspected that the problem could have a genetic basis. With the help of very collaborative breeders and owners from Australia, samples were collected from the two affected puppies, the sire and dam of this litter, as well as the unaffected litter siblings. Additionally, after starting the investigations, an additional dog, closely related to this litter, was suspected to have suffered from a similar presentation; further buccal swabs were collected from this dog, both parents and one unaffected sibling.
These samples were mailed across the world with the goal to identify, through Whole Genome Sequencing (WGS) a possible genetic cause for these affected puppies. Funded by donations from the breed community, investigations are under way to identify the genetic mutation and to hopefully develop a DNA test, with the ultimate goal to improve the health of future generations.
In the meantime, the affected puppies have grown and their wobbly gait has improved, showing only a very residual wobbly gait and living a normal and loving life.