In 2015, thanks to advancements in genome sequencing technology, scientists in The KCGC at the AHT were able to identify the mutation responsible for a rare, neurological condition, cerebellar ataxia, in smooth-haired Hungarian Vizslas and develop a DNA test for this condition.
What was novel about this research was that in order to find the mutation responsible, the AHT used whole genome sequencing to study all 2.4 billion letters of DNA from just one affected Vizsla. Traditionally, a genetic investigation into a disease of this nature would require DNA samples from at least twelve affected dogs and the same number of healthy dogs from the same breed.
Dr Cathryn Mellersh, said: “The combination of advances in genome sequencing technology, alongside our expertise and bespoke computer analysis, has paved the way for our Give a Dog a Genome project. We came up with the concept that we could use whole genome sequencing to directly identify disease mutations. We aimed to create the UK’s largest canine genome bank to make it much easier to investigate all of a dog’s DNA, and find rare genetic mutations relatively quickly. We can do this by comparing the genomes of affected dogs with the genomes of healthy dogs from different breeds, as we did for cerebellar ataxia in the Vizsla.”