Mutation responsible for progressive retinal atrophy in the English Shepherd published

Back in March, CAGT launched a DNA test for progressive retinal atrophy (PRA) in the English Shepherd Dog breed (PRA6). Since then we have been working on a manuscript detailing our research and we are very pleased to announce that it was published last Sunday in Genes.

Stanbury K, Schofield EC, McLaughlin B, Forman OP, Mellersh CS. Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English ShepherdGenes. 2024; 15(7):952. doi: 10.3390/genes15070952

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Paper detailing PRA modifier frequencies published

The Canine Genetics Centre has had an important study published, in collaboration with Wisdom Panel, on the genetics of progressive retinal atrophy in dogs. The paper describes the frequency of two genetics variants, called RPGRIP1ins44 and MAP9del, in 132 different breeds of dog. Both the variants were originally identified in Miniature Longhaired Dachshunds, and both are known to modify the development and progression of PRA. Continue reading

Mutation responsible for multiocular defect in the Old English Sheepdog identified

In 2017, as part of the Give a Dog a Genome project, we sequenced the genome of an Old English Sheepdog (OES) that had been diagnosed with hereditary cataracts under the BVA/KC/ISDS Eye Scheme. This was the start of a project that turned out to be a lot more complex than we initially thought it would be, and that was disrupted by both covid and our move from the Animal Health Trust to the University of Cambridge, but that we finally concluded at the end of last year. Continue reading