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Thread: AHT interim Episodic Falling Syndrome statistics

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    Default AHT interim Episodic Falling Syndrome statistics

    Animal Health Trust reports interim statistics from its DNA study of Episodic Falling Syndrome in the cavalier King Charles spaniel. One out of five cavaliers were found to carry the defective gene.

    As of May 15, 2012: 2,811 cavaliers have been DNA-tested for episodic falling syndrome, of which 104 (3.7%) have been found to be "affected" with two of the mutated EFS gene, 605 (21.52%) are "carriers" with only one of the mutated gene, and the rest, 2,102 (74.78%), are clear of the defective gene.

    http://www.cavalierhealth.org/episod...of_DNA_testing
    Rod Russell

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    wow, I didn't think there would be so many carriers. Do you know the months of the data collection for this last statistics? Clearly I can see why breeders need to keep the carriers in their breeding program.

    Labradors have a similiar condition called Exercise Induced Collapse. Carriers are encouraged to be removed from breeding but Labrador gene pool is so much larger than the cavaliers.

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    Quote Originally Posted by sunshinekisses View Post
    ... Do you know the months of the data collection for this last statistics? ...
    AHT starting collecting DNA samples in April 2011, so this is about a year's worth. There still are at least a hundred samples in the pipeline, yet to be examined.
    Rod Russell

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    It's a lot higher than I would have expected.
    Then again,they are interim statistics and people would have started testing to hunt down suspects.
    But I hope it puts an end to the notion that carriers could or should be removed from breeding programmes.
    Carriers are in fact healthy dogs,and in the hands of capable and competent breeders,can be utilised for the benefit of the breed.
    Sins
    Sharing my sofa with Holly, Ivy,Lilly and Hazy.. and never forgetting our beautiful Daisy who reached the bridge too soon.

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    I would guess as well many owners had suspect EF dogs tested and had the parents tested. It could very well skew results for the worse. I would like to see numbers again in a year after CEO breeders have their breeding dogs tested.

    Overall I think the DNA testing is being done so congrats to all those involved that helped with the development of the tests!

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    I will note again that the researcher behind this, Jacques Penderis, stated strongly to me in an interview posted elsewhere here that he felt EFS was MORE common than epilepsy in the breed and he classified it as a 'common' genetic issue in cavaliers. I know as many EFS & epileptic cavaliers as I know symptomatic SM cavaliers in Ireland. My vets (a large practice with about 6 clinics) say they see both regularly in cavaliers (EFS & epilepsy, that is).

    The results from such a massive sample would be very hard to skew -- initially there was such a small response for getting samples that they put out a wider call (eg to pet owners) for the free testing. So this is almost certainly a very random sample, with a lot of dogs eventually coming from breeders through club appeals. But I think there just aren't that many affected dogs for there to be anything like the hundreds and hundreds of expected carrier parents to influence the sample. Of the breeders and pet owners I know who submitted DNA for this, none had suspected EFS dogs.

    I think overall it is impossible not to use carriers of CM/SM either -- that's why MRIs are probably going to remain important tools for many years and must be an expected cost with this breed. What's needed is not a DNA test simply for the condition, but a DNA test that can incorporate in what the Canadian team suspect and have found compelling evidence for -- that there is also a 'protective' gene or genes that in some dogs, prevents CM evolving into SM or into highly symptomatic SM.

    Hence again why just submitting scan results that only take into account the presence of a syrinx is not adequate for DNA work in the breed -- SM is only part of the picture.

    EFS and CC were far easier to isolate as they are simple inheritance genes. MVD and CM/SM are on all evidence, far more complicated.

    The worrying thing is how many potentially serious health issues there are in the breed, with MVD an almost-certainty in all dogs and so widespread in early onset form that it skews life expectancy, and CM almost all dogs, and SM the majority. The situation is so severe that I think anyone with a supposed CM free dog has a moral and ethical obligation to submit the scan to at least one of the BVA/KC panel neurologists for a second opinion. Such dogs are just too rare, and too many neurologists are poor at reading for CM.

    Right now cavaliers have a lot of bullets to dodge.
    Karlin
    Cavaliers: Jaspar Leo Lily Tansy Libby (foster) Mindy (foster)
    In memory: Lucy
    Cavalier SM Infosite:www.smcavaliers.com

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