CKCS genome scanning project
Researchers in Canada and the UK are pleased to announce that they have received the go-ahead to complete a full genome scan of the CKCS breed for syringomyelia.
Note that researchers no longer need cavalier blood for this project as they have sufficient amounts for the scan to begin.
However, please note that blood IS needed from SM-affected dogs of breeds OTHER than CKCS and also from NORMAL dogs WITHOUT SM that have been MRId (this includes dogs with the Chiari-like malformation [CM], but NOT SM). Full information and downloadable forms are below.
Funding support is still needed for this and other CKCS SM research; links for donating are below.
CKCS to get full genome scan
September, 2005
UK-based researchers Clare Rusbridge and Penny Knowler and their Canadian collaborators Guy Rouleau and Berge Minassian have been successful in their submission to the Mammalian Genotyping Service at the Marshfield Clinic in Wisconsin (USA) for a full CKCS genome scan. The research is initially into syringomyelia but hopefully will be extended to looking for candidate genes for MVD as well.
The research, undertaken by a joint veterinary and human medical group, will benefit both 'man and his best friend'. Syringomyelia in CKCS is an excellent model for research into the condition in humans, and geneticists are interested in validating findings from the CKCS research in people. Finding the gene and learning how it works would help the understanding of the disorder for better diagnosis, clinical management and ultimately, prevention. For biologists, these studies will provide new insights into the poorly understood process of normal development of craniocerebral structures of the central nervous system. The researchers say that many people worldwide will benefit from this research -- and are pleased that so many 'ordinary' people worldwide are contributing to make it possible.
The genome scan will identify markers which can then be used to identify the gene/s responsible for the disorder causing syringomyelia. The same team have already been successful in identifying the canine gene for Lafora's disease. The research is expected to take several years but the first stage will hopefully produce a DNA test which will enable informed breeding decisions.
The researchers say that due to the generosity of clubs, research projects and individuals, they have collected enough DNA samples to start the genome scan. Therefore they no longer require DNA from CKCS dogs with syringomyelia. However, the researchers are still anxious for DNA from dogs of breeds other than cavaliers that have syringomyelia.
The researchers acknowledge that the entire project could not have been undertaken without the support of the UK DNA Archive for Companion Animals which provided DNA extraction and storage from samples taken in the UK
How to donate blood/DNA:
If you have a dog of a breed other than CKCS diagnosed with syringomyelia, or a dog of another breed that has been MRId and is NORMAL or has the Chiari-like malformation (CM) but NO SM, please contact:
Clare Rusbridge
Stone Lion Veterinary Centre
41 High Street,
Wimbledon,
SW19 5AU, UK.
Confidential fax line 00 44 208 7860525
email: neuro.vet@btinternet.com
or
Isabelle Thibault
Centre for the Study of Brain Diseases
P0: 824 329
CHUM - Notre Dame Hospital
Simard Pavilion, Room Z-8911
2065 Alexandre de Sève St.
Montreal, QC
H2L 2W5 CANADA
Fax: (514) 412-7602
Phone: (514) 890-8000, ext. 24857
To donate blood/DNA for this important research, you will need
1) to download this phenotype form, as well as
2) this sheet on how to collect DNA, and
3) this sheet on how to ship samples to researchers in Canada
Making a cash donation
You can also make a much-needed cash donation towards this project:
Genome Project
The collection of DNA for this research has been successful due to the many individual cavalier lovers that have contributed their time, effort and money to help with this vital aspect of understanding this disease. Funds are crucial. Private donations help the researchers on this project to MRI confidentially, cover international postage costs and defray archiving costs. The researchers note that this is the final phase of this project and that your contribution could make all the difference - blood or money! Donations towards Syringomyelia DNA Research -- the genome scan -- can be made via Paypal.
Entering the following email address at the PayPal site will bring up the 'SM DNA Fund' account: penny.knowler@ntlworld.com. Donations can be made in several currencies using a credit card or PayPal funds.