give a dog a genome -
success stories so far
Here are some examples of how whole genome sequencing has helped geneticists at the AHT find disease mutations and launch new DNA tests to improve the health of dogs, so far. Once 50 different dog breed genomes have been sequenced, as part of Give a Dog a Genome, we expect to see many more developments like these in our research to benefit many more dogs.
Hungarian Vizsla –
Whole genome sequencing leads to cerebellar ataxia DNA test
Cerebellar ataxia is a rare neurological condition that has been reported in a small number of Hungarian Vizslas. Clinical signs of progressive ataxia (gait incoordination) are apparent between 2-3 months of age. There is no treatment or cure and affected dogs are euthanised on welfare grounds due to the progressive nature of the disease. A marked head tremor has been seen in one case.
The AHT has used whole genome sequencing of DNA from an affected Hungarian Vizsla to quickly identify the mutation responsible for its disease and to develop a DNA test – coming soon - that will be used to eradicate the mutation from the breed.
In collaboration with the Royal Veterinary College, the genome sequencing data from an affected Vizsla was compared to genomes of 13 other dogs, of other breeds, none of which had cerebellar ataxia. 290 variants were found in the Vizsla genome that no other breeds shared. Only one of these variants had the potential to cause cerebellar ataxia.
After running further comparisons we have now checked the genomes of 21 dogs of 17 different breeds and have isolated the variant causing cerebellar ataxia in the Hungarian Vizsla. This variant was not found in any other breed. The only dogs found with this variant are Hungarian Vizslas with cerebellar ataxia (who have two copies) and some of their unaffected close relatives (who carry a single copy).
Additional experiments demonstrate conclusively that this variant is the cause of cerebellar ataxia in the Hungarian Vizsla. A DNA test has now been developed that will be offered to Hungarian Vizsla breeders from February 2016 to enable them to avoid breeding puppies that will develop this disease, and to ultimately eradicate this mutation from the breed before cerebellar ataxia becomes a widespread problem.
This Vizsla genome sequence will now be used as a control sequence in additional studies to investigate inherited diseases in other breeds and will thus contribute usefully to research beyond the ataxia study and serves as a pilot project for Give a Dog a Genome - as well as one of the first 50 breed genomes to be sequenced as part of Give a Dog a Genome.
Petit Basset Griffon Vendéen –
Whole genome sequencing aids detection of primary open angle glaucoma mutation
In March 2015 the AHT launched a new DNA test for primary open angle glaucoma (POAG) in the Petit Basset Griffon Vendéen, the only breed in the UK currently certified under the BVA/KC/ISDS Eye Scheme for POAG.
For this form of glaucoma, there is no way to screen the dogs for signs of the disease prior to its onset and dogs tend to be affected around middle age, and potentially after they have been bred from. It is a painful and blinding disease, although some dogs will respond well to treatment most go blind in both eyes.
After several years of research at the AHT, using DNA samples provided by many supportive owners and breeders, the mutation was finally found and a DNA test launched, after applying the whole genome sequencing technique.
This technique was able to speed up the investigation process by confirming where the mutation was when the genome was compared to the whole genome of other dogs, not affected by POAG.
To date, testing for this disease mutation has been a huge success on an international scale, with over one thousand dogs DNA tested in less than a year. More than 50 of these have been identified as affected by POAG and more than 400 have been identified as carriers of the mutation, helping breeders control and eradicate this disease which currently affects about 10% of Petit Basset Griffon Vendéens.
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