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View Full Version : Episodic Falling & Dry Eye Curly Coat Syndrome. DNA tests available from 18th April.



Margaret C
4th April 2011, 02:42 PM
PRESS RELEASE

CAVALIER KING CHARLES SPANIELS TO BENEFIT FROM TWO NEW DNA HEALTH TESTS

The Kennel Club Genetics Centre at the Animal Health Trust launches DNA tests for dry eye and curly coat syndrome and episodic falling

Scientists working in the Kennel Club Genetics Centre at the Animal Health Trust have identified the mutations responsible for causing dry eye and curly coat syndrome and episodic falling in Cavalier King Charles Spaniels (CKCS).

The two separate conditions cause trauma and distress not only for the dogs but also their owners.

Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months.

Dry eye and curly coat, known scientifically as congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, affects a dog’s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. This syndrome appears to be a problem unique to CKCS and most dogs diagnosed with the condition are put to sleep.

Claudia Hartley, Head of Small Animal Ophthalmology, at the AHT, said: “I have treated, and tried to help, many dogs with this horrible condition. We’ve been working hard to try to find alternative treatment solutions. I’ve always hoped that the work we’ve been doing would eventually identify the cause of this painful and blinding disease. We now have a real chance to eradicate dry eye and curly coat which is fantastic news for anyone involved with Cavalier King Charles Spaniels.”

The mutations were identified by PhD student, Oliver Forman, who analysed over five million letters of DNA from CKCS affected with these two diseases. By identifying the genetic mutations responsible for causing these conditions, the AHT has been able to develop DNA tests to identify carriers. These new DNA tests will be available from Monday 18 April 2011.

Cathryn Mellersh, Head of Canine Genetics at the Animal Health Trust, said: “To date there has been no long-term effective treatment for either dry eye and curly coat syndrome or episodic falling so the development of the DNA tests is an important breakthrough for breeders, and owners, of Cavalier King Charles Spaniels.”

Mike Townsend, Chairman of the Kennel Club Charitable Trust which helps to fund the Canine Genetics Centre’s work, said: “Every dog deserves to lead a healthy, happy life and this breakthrough will make a real difference to the future health of Cavalier King Charles Spaniels. Our knowledge about inherited diseases in dogs is growing every day and by passing knowledge about the importance of health testing onto breeders and puppy buyers we can help to ensure that the healthiest genes are passed down through the generations.”


The episodic falling study was undertaken in collaboration with Professor Jacques Penderis from the University of Glasgow School of Veterinary Medicine, who diagnosed many of the dogs that contributed to the study.

The support of the Kennel Club Charitable Trust, The WALTHAM Foundation, the Tezmae Charitable Trust, along with several breed clubs and individuals who have contributed samples and information, has been invaluable in the development of the DNA tests.

Cathryn added: “As with all inherited disease, it’s important that breeders are armed with the facts and that they still continue to use carrier dogs in their breeding programmes. Breeding a carrier with a non-carrier will not produce affected puppies, however breeding just clear dogs with other clear dogs could reduce the gene pool within the breed and this could lead to other health problems in the future.”

Owners and breeders can access the DNA tests for dry eye and curly coat and episodic falling, from 18 April 2011, through the AHT’s online DNA testing webshop at: http://www.ahtdnatesting.co.uk/ (http://www.ahtdnatesting.co.uk/)

The Kennel Club Charitable Trust has committed £1.2 million to the Kennel Club Genetics Centre at the AHT, which will undertake research into inherited diseases, facilitating the creation of further diagnostic tests which will improve the health and welfare of generations of dogs.

Ends.

sunshinekisses
4th April 2011, 05:24 PM
I am so excited for the dna tests. As I have been involved in other breeds that have been very pro-health screen before breeding and have the use of dna tests to limit life altering health conditions I am excited to see the cavalier breed catch-up. In some breeds it is just expected to have dna tests to limit the affected offspring, when I went to the cavalier breed I was so surprise how little health screening is done, at least in USA. Hooray for moving forward!

Tania
4th April 2011, 05:56 PM
This is fantastic news, thank you for posting. :jmp:

Margaret C
4th April 2011, 11:30 PM
I am so excited for the dna tests. As I have been involved in other breeds that have been very pro-health screen before breeding and have the use of dna tests to limit life altering health conditions I am excited to see the cavalier breed catch-up. In some breeds it is just expected to have dna tests to limit the affected offspring, when I went to the cavalier breed I was so surprise how little health screening is done, at least in USA. Hooray for moving forward!

Wonderful that a one-off test will tell anyone with a breeding cavalier their dog's status for these two conditions.

There has been some dedicated work carried out by Barbara Reese and some other cavalier breeders in UK, USA, and New Zealand.

Thank you, it is so good to know your many years of hard work has paid off.
Cavaliers owe you a great debt of gratitude.

Their website is:-
http://www.cavalierepisodicfalling.com/

Karlin
5th April 2011, 12:31 AM
This is really exciting news! When I spoke to researcher Jaques Penderis and he mentioned that there would be a DNA test for episodic falling announced probably in April, he hinted that there was another significant announcement and it must have been this, that there would be a DNA test for dry eye/curly coat as well. :D Both of these conditions have been such a cause for worry for both pet owners and responsible breeders. Barbara Reese has done tremendous work in raising awareness on episodic falling and I am sure she and the other breeders who have really tried to help with these conditions are delighted with this news.

Bet
5th April 2011, 11:02 AM
This is really exciting news! When I spoke to researcher Jaques Penderis and he mentioned that there would be a DNA test for episodic falling announced probably in April, he hinted that there was another significant announcement and it must have been this, that there would be a DNA test for dry eye/curly coat as well. :D Both of these conditions have been such a cause for worry for both pet owners and responsible breeders. Barbara Reese has done tremendous work in raising awareness on episodic falling and I am sure she and the other breeders who have really tried to help with these conditions are delighted with this news.


EPISODIC FALLING & DRY EYE CURLY COAT SYNDROME .DNA TESTS AVAILABLE FROM 18th APRIL.

This is great news ,but can I mention I wonder what the CKCS Health Liason plans are in discussing with the Animal Health Trust to find the most effective way of using the Tests for both those Conditions.

Is it not for the Cavalier Breeders to take Blood Samples of their Cavalier Breeding Stock and if they have those Genes then they should not be Bred from?

When there is a Carrier ,it has been mentioned that a Carrier can be mated to a Non-Carrier.

Finally can I mention that I had recently contacted Professor Jacqes Penderis, mentioning that over the years I had collected Pedigrees of Cavaliers suffering from Epilepsy because our Becky had developed this condition ,that I had seen some Cavalier Pedigrees of Cavaliers with Episodic Falling and they were very Similar,

I wondered if there could be be a Link in the Gene Location for both those Problems.

His Reply was that ,it was an Interesting Question and not one that the Reserachers had looked at ,that they had just concentrated on Episodic Falling ,but that this may be looked at in the Future.

Bet

Karlin
5th April 2011, 12:16 PM
Bet, I think I posted this already in response when you raised a similar question before. I spoke to the same researcher within the last two months, and he definitively said that genetically, they have found no link is possible between these two conditions. He said they definitely were not related.

Margaret C
5th April 2011, 02:55 PM
http://pedigreedogsexposed.blogspot.com:80/2011/04/how-many-more-cavaliers-have-to-fall.html

This shows a video of a cavalier with EFS.

The blog itself makes grim reading for me, as Faith has been mated again & I am waiting to see if she is going to produce puppies this time.

Margaret C
7th April 2011, 11:39 AM
http://www.dogworld.co.uk/News/14-Cavalier

Cavalier King Charles Spaniel Club chairman Sheena Maclaine said: “We are absolutely delighted that we have got to a stage that the mutations responsible for these conditions have been established and that there are DNA tests available. We will be putting the information on our website immediately and writing to inform all our members.
“The KC and its Charitable Trust have put an awful lot of money into this; if only similar tests were available for other conditions from which the breed suffers. This is proof that working with the experts helps. These scientists have given their time to help the breed and it has been a long haul to get to the stage that we have DNA tests available. However, if no one is prepared to provide the data we can’t move forward and that is the difficulty.
“We as a club are encouraging more and more people to screen for health conditions. At our March championship show, ophthalmologist Ian Mason checked the eyes of 72 Cavaliers and did not detect any incidences of cataract or MRD. We provided free heart testing for all and cardiologist Simon Swift listened to the hearts of 164 Cavaliers; 138 had no murmurs. However, he was disappointed to find that there were only three dogs over the age of seven who were murmur free, and 13 dogs examined over the age of seven all had a murmur, although six of these were only graded two or less.”
Mrs Maclaine said that that all the Cavalier clubs have encouraged ‘and continue to encourage’ their members to scan their stock for syringomyelia.
“The number of those now scanned speaks volumes when you consider where we were a couple of years ago,” she said. “Many of the clubs have offered some financial assistance with the cost of scans for their members.
“We now await the outcome of talks regarding the imminent KC/British Veterinary Association syringomyelia scheme and the apparent stumbling block of publication of results.”

Nicki
7th April 2011, 02:46 PM
This is fantastic news, I was already aware about EFS but didn't know that they had also found the genes for DE/CC.

I really hope that the breeders will come on board and get their dogs tested - it sounds like it is something that could be very simply carried out at shows - that would be a start and maybe eventually we can reach all the other breeders too.
F

For one of the breeds - I think it's Irish Setters - the Kennel Club does not allow the puppies to be registered unless both parents have had the relevant genetic test for a condition that affects them. This would be a very simple way to get the message across to breeders - and would also give the Kennel Club the opportunity to show how proactive they are being in health issues affecting Cavaliers. Also perhaps they would be able to take it further and use the opportunity to educate breeders about other health conditions...


I know that many breeders' reaction will be "not more testing" and saying that they cannot afford to pay for it...but our beloved breed is sadly affected by so many different conditions.

These are two that we could very easily get rid of forever over just a few generations - wouldn't that be fantastic?