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A letter to all from researcher Penny Knowler


Staff member
Penny Knowler and Dr Clare Rusbridge are two of the leading researchers into Chiari-like malformation (CM) and syringomyelia (SM) in cavaliers. They also are the UK team behind the Canadian CKCS genome project, to find the gene(s) responsible for CMSM. The donations to Rupert's Fund go directly to funding scans on older cavaliers in the hopes of finding more older dogs who are clear of SM for the very final stage of the genome project.

Penny has written this letter to CavalierTalk members and all others who wish to support this initiative, to explain what this research is for and why it is important:

The CM/SM genome research has been ongoing since 2004 (http://www.veterinary-neurologist.co.uk/research.htm. Finding the gene/s involved in this complex trait is very challenging because studies suggest some environmental influences are involved. Another problem is the 'late onset' nature of SM (it is a progressive condition and dogs may show no signs for several years). This is why screening dogs over 6 years is so important - both for the breeders and research. In 2008 we received an AKC grant #954 which has enabled us to reach the 'fine mapping' stage in the genotyping. We had hoped the two Cavalier Clubs in the USA would raise awareness of the need for older scanned dogs, so we are particularly indebted to this new initiative, 'Rupert's Fund', that will provide both DNA and valuable data.

Last year the Rusbridge fund 'Syringomyelia DNA Research' was given a CAN$9,500 donation from 'FTLOO' (For the Love of Ollie Fund -- www.fortheloveofollie.com ) thanks to pet owner Sandy Smith. This was used for an 'over 6 year project' in Canada. In collaboration, the Canadian Cavalier Club organised and subsidized the blood work expenses to have a total of 23 dogs scanned and DNA taken for the genome project. We are particularly grateful to Karen Kennedy and Mary Beth Squirrell for arranging this. Most of the scanning was done at Mississauga with Dr J Sykes, providing full length MRIs of very high quality. Two dogs were scanned in Vancouver (at Canada West Vet Specialists).

The aim of the genetic research is not simply finding the gene/s involved but more about what they do and how they do it, and will help with treatments. Learning how the condition is inherited will hopefully give breeders sufficient information to breed away from SM using genomic breeding values (gBVs) in a computerised mate selection developed by Dr Sarah Blott at the Animal Health Trust in the UK. Unaffected parents increase the breeding values of offspring as well as increasing breeders' choices for mates.

The genome research has had contributions from all over the world but more help is needed. Please raise awareness of the need for older scanned dogs and encourage breeders to come forward with existing scans or to have asymptomatic older dogs scanned.
Oliver, who will be nine in March, had an MRI scan in December for cervical disc problems and was found to be SM free - absolutely no syrinxes. I have sent a disc of his MRI to Clare Rusbridge and a DNA sample to Penny Knowler. I am so happy that I have been able to help in this way.
Wow, that is fantastic Bev. I saw your post about Oliver on another thread and was wondering if you'd sent his info through to Penny and Clare; so glad you were right on top of things! Anyone else with scans for dogs over 6 with national kennel club registration, from anywhere in the world -- these are valuable whatever the result and can also be sent to the researchers. You can PM me for more info, or email Penny: [email protected].