The two main specialist areas of focus for our work in the Canine Genetics Centre (CGC) are ophthalmology and neurology. For this week’s newsletter, Dr Sally Ricketts, Senior Research Associate, tells us about how the CGC joins forces with the Queen’s Veterinary School Hospital (QVSH) to enhance our research into these conditions.
“As we’ve described in previous articles, we work closely with our clinical colleagues both at Cambridge in the QVSH and at other institutions to make sure that the dogs we include in our investigations have been robustly diagnosed, and that we have a thorough understanding of the disease,” commented Sally. “This means that we conduct our genetic analyses fully informed about the clinical description of the disease we are studying, and about how it could be inherited.”
Diseases inherited in an autosomal recessive manner are now much easier to investigate genetically due to the reduced cost of whole genome sequencing (reading the entire DNA sequence of an individual) and due to the availability of whole genome sequences from other dogs that are unaffected for the condition under investigation.
“Building on our Give a Dog a Genome project, CGC’s sample bank has now grown to over 350 dogs and this, coupled with publicly available data, means that we have a very powerful approach to conduct these initial investigations,” said Sally. “But it’s still really important for us to have DNA from related family members where possible, and other unaffected dogs of the same breed to validate our findings.”
An example of this is a study the CGC are currently involved in to investigate a novel neurological disease in a family group of Labradors. “One of the cases for this new disorder was seen at the QVSH by our clinical colleague veterinary neurologist Georgina Harris,” said Sally. “This case – and another of the two additional cases seen at other referral specialists in the UK also collaborating on this study – was whole genome sequenced to search for a molecular diagnosis for the dogs. This investigation is currently underway, and we should have some exciting findings to share in the coming months!”
