What is Renal Dysplasia (RD)?
Renal dysplasia is a congenital condition where the kidneys fail to develop normally and therefore to function properly. The resulting organs, tissues and cell types are poorly differentiated and ineffective in their job of filtering waste and balancing fluids.
The irreversible condition can appear in puppies and young dogs, leading to serious health issues as the dog grows. While any dog may be affected, the is evidence of a genetic component in some breeds, including Flatcoated Retrievers (FCR) and Golden Retrievers (GR).
In most breeds renal dysplasia is considered a complex disease. However the early onset nature of RD in the FCR/GR could, potentially, be indicative of a high impact causal variant(s).
Our current work investigating RD
In most breeds renal dysplasia is considered a complex disease. However the early onset nature of RD in the FCR/GR could, potentially, be indicative of a high impact causal variant(s). We are currently working closely with both breeds to generate funding and identify suitable cases to commence our research.
Whole Genome Sequencing (WGS)
We will use a whole genome sequencing approach to generate data from affected dogs with a confirmed diagnosis of renal dysplasia (cases) and unaffected dogs over the age of 8 years of age (controls).
Using our WGS databank of >500 other dogs, we will identify genetic variants that are more common in the cases than in the controls and that are rare/absent in dogs of other breeds (that are not reported to be affected with RD).
We will filter variants based on their distribution between cases and controls, their predicted impact on the relevant protein and whether they are located in genes with a plausible role in the development of RD.
Variant Follow-up
Variants remaining at the end of the WGS filtering process will be considered ‘candidate variants’.
If a number of candidate variants are identified by the WGS analysis, we would genotype them in a larger cohort of FCRs, to identify those that associate reproducibly with RD in this breed. Any that are found at high frequency in unaffected dogs will be excluded.
If candidate variants are not identified after initial WGS analysis, we would proceed to generate WGS from additional cases and controls and repeat the process.
Funding
Our research is generously supported by the Flatcoated Retriever Society, the Flatcoated Retriever Club of Scotland and the Southern Flatcoated Retriever Club, as well as personal donations and fund-raising campaigns.
Please also consider donating to support the Canine Genetics Centre and our RD research. It costs about £400,000 a year to keep the Canine Genetics Centre running and we welcome all donations, large or small; How to Support Us – The Canine Genetics Centre
