AHT KC Canine Genetics
Canine Genetics Progress Report
October 2009
Breed: Cavalier King Charles Spaniel
Condition: Episodic Falling
Date: October 2009
  Recent / Current Funding:
Funding Body: Kennel Club Charitable Trust
Amount: £8,880
Start Date: 2009
The above grant is specifically to study Episodic Falling (EF) in the Cavalier King Charles Spaniel. In addition to the above, donations totalling 2707.00 have been received from Breed Clubs and individuals to study the genetics of EF.

Sample Collection
We have now collected DNA samples from 30 Cavalier King Charles Spaniels affected with episodic falling. We have also collected samples from 480 additional Cavaliers, which provides us with a very solid sample base to select controls from.

The recent grant from the KCCT, together with the generous Club and personal donations we have received, coupled with the substantial number of samples from EF affected dogs that we have been able to collect, means we are have reached a significant milestone and now in a position to initiate active research on this project. We plan to select at least 24 cases and 24 controls for the initial genetic analysis, which is known as Whole Genome Scan (WGS).

The Genome Scan
The EF WGS will be one of the first canine disease studies to take advantage of a new canine SNP (Single Nucleotide Polymorphisms) genotyping array that is currently being developed. This array, available from October 2009, has the power to analyse up to 200,000 genome-wide SNPs, giving us an excellent chance of isolating the region of the dog genome that contains the mutation causing EF.

SNP genotyping arrays have been ordered for us by a genotyping service provider in Cambridge, UK. Samples are currently undergoing DNA extraction and a quality control process, prior to being submitted to the genotyping company.

Expected Timeline
As we have the samples and funding required in place, we anticipate that we will proceed with the genome scan late 2009/early 2010, with the data becoming available approximately 6 weeks after that. Data analysis will take an estimated 8 weeks, so we hope to have some initial results by spring 2010. It is at this stage that we shall know if we have identified a small area of the genome harbouring the mutation responsible for EF or if we will need to continue with the sample collection and analyse additional samples. We would still encourage owners of EF affected dogs to submit.

Thank You
The AHT would like to thank the very many Cavalier owners and breeders who have offered us samples and information about their dogs. Without this kind of co-operation we would not be in a position to investigate EF in this breed; with your continued co-operation we will continue to make progress.

We would also like to thank everybody who has raised and donated money for the research effort at the Animal Health Trust. As a charity we rely heavily on donations and they really do make a significant difference to the work we can do.

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