MAKE IT HAPPEN

Colleen O’Keefe, DVM, MS

Colleen O'Keefe is a practicing veterinary surgeon and a member of The American Welsh Springer Spaniel Club, where she is in charge of health issues. She is also a member of The Health Foundation of The American Kennel Club, CHF. She is a WSS-owner since 1979 and a breeder of Welsh Springer Spaniels under the kennel name of Limberlost. At present she houses eight WSS aged 4 months to 13 years.

I met Colleen in 1999, when I visited Perry in the South of the USA to be present at a WSSCA Club Show. From Colleen I bought a pin, Make It Happen, which made me wish to find out about its background. Now, two years later, I'm proud to present to you Colleen O'Keefe, one of the driving forces in the WSSCA when it comes to raising funds necessary to continue the research at the University of Missouri.

Something that started as a dream - the dream of eliminating epilepsy from the WSS, a big problem in Great Britain, and even in the US - is no longer a dream, but a possibility. In Sweden we also have the problem, though to a lesser extent.

Now, this is not only about freeing WSS from epilepsy, but also about the possibilities of testing for other diseases. Some results have already been reached, e.g. glaucoma. Read more about this in Colleen's account of how it began and where we stand today.

Those of us, who wish to contribute to the research, will find more information at the end of the article.

Colleen will be back in the next issue of Welsh Nytt with an article on cancer in dogs.

Laila Gistedt +46 8266401

Two years ago the members of the Welsh Springer Spaniel Club of America (WSSCA) started working towards a dream - the elimination of epilepsy in Welsh Springer Spaniels (WSS).

The University of Missouri in conjunction with the American Kennel Club’s Canine Health Foundation (CHF) initially started studying epilepsy in Standard Schnauzers and later requested additional breeds to study. The first step for the members of the WSSCA was to provide samples from enough affected dogs and their families (siblings, parents and grandparents) to prove that enough data would be available. Through the hard work of several very committed breeders the WSSCA met that goal and was accepted into the study.

The funding for this study is underwritten by the CHF. The WSSCA is required to provide $4000.00 (okay to change into your currency) annually to help fund this study. The CHF provides matching funds to the WSSCA assessment and provides a tax-deductible expense for the donors. Club members once again rallied and we have met our assessment for each year.

What is genetic research: Here are some definitions to help with understanding. A gene is composed of sequences of 4 amino acids, which make up DNA. These are the functional units of heredity, which are transmitted from generation to generation. Genes provide a template for protein production, which are the building blocks in all living beings. Chromosomes are the structures in which the genes are present and can be seen microscopically. Markers are distinct series of repeated amino acids, which consistently occur in the same area of specific chromosomes in each species (dog, mouse, and human) but are not a template for protein production. Markers are used like house addresses to pinpoint specific areas on each chromosome. Initially when looking for a specific trait the area of the trait is narrowed first to a specific chromosome, then to an area on the chromosome which is flanked by certain markers and finally to the specific amino acid sequences. Once various traits are located the next step is to locate where in the sequence a mistake has occurred. This mistake, called a mutation, causes the undesirable problem - epilepsy, glaucoma, renal disease. This may be only one amino acid out of 1000ís in the trait. Humans and mice have had there genome ìmappedî. This means that most of the genes have been located. Mammals all have very similar DNA however while the location of a trait on each gene is consistent between each species, it is not consistent between various mammals. For instance it is known that mutations in certain proteins that help the brain cells talk to each other will cause epilepsy. The location of these proteins is known in mice, presently the researchers are trying to locate these genes on the dog.

Epilepsy research: The genetic research is concentrating on the genes that control how brain cells talk to each other. If there damage (mutation) to any area on one of these genes then epilepsy can occur. Standard Schnauzers have a similar seizure pattern to WSS: young onset, predominantly males, difficult to control. From the preliminary research in this breed it appears that epilepsy is caused by the presence of a mutation on 2 genes one: autosomal and the other sex linked. (Basic genetics can be covered in another article). The researchers are presently trying to find additional markers to locate the mutation. This research is still in the early stages, so any additional families or affected dogs that are added to the study help make the chances of finding the specific genes better.

Glaucoma: Presently the researchers have an actual gene (termed a candidate gene) that causes glaucoma in Basset Hounds. They are looking for samples from Welsh Springers who affected with glaucoma in one or both eyes. Samples from these dogs would be tested to see if the same gene responsible for glaucoma in Basset Hounds is the same in Welsh Springers. If the genes are the same it could lead to a DNA test which would eliminate glaucoma in Welsh Springers.

Welsh Springer DNA data bank: As a bonus the University of Missouri is data banking DNA for all Welsh Springers at no charge to us. The only requirement is that the sample may be used for testing if necessary. If and when a test for epilepsy becomes available any sample in the data bank will be tested at no charge. The data bank is not limited to WSS in the US. Any Welsh Springer regardless of country may be banked. The only expense is the actual transport of the samples. At this time, the researchers require large amounts of DNA. Cheek swabs do not provide enough DNA for research, therefore a minimum of 12 cc of whole blood must be submitted. Entire litters have been banked by submitting tails or dewclaws from each puppy.

All test results on individual dogs are private. In results, which are published, all dogs are anonymous. Results are reported to the owner only. All samples are logged into the lab and referred to by the lab number only. The researchers do not know the names of individual samples.

For those interested in contributing blood tests to the research, Colleen has collected all the necessary documents on Internet. All the information (in English) could be downloaded. Colleen will be happy to help you if needed. So will I - within the limits of my ability.

We will also sell the pins MAKE IT HAPPEN in support of the research. They will be available at the Club Show and from me. For more information about buying a pin, please see the advertisement or

contact Laila Gistedt. The whole profit of the sale will go back to the US. We have access to information about ongoing research and will of course contribute to this research by buying a pin each of MAKE IT HAPPEN in solidarity with our American welsh springer-owners/breeders. When a test becomes available it will be for everyone, everywhere.