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JRD by Doppelganger on 23 February 2011 - 15:05 |
| The Flatcoated Retriever Society are holding a health seminar at Stoneleigh on 5th June and one of the items on the agenda is JRD. Here is a link to an interesting article on it: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0016684 Thought this might be of interest. |
by Doppelganger on 23 February 2011 - 15:06 |
| Link for seminar: http://www.flatcoated-retriever-society.org/images/stories/health/flyer11.pdf |
by Videx on 23 February 2011 - 19:13 |
| GSD breeders would be very well advised to look very carefully at the very high incidence of JRD in Flat Coated Retrievers (FCR) to see how JRD can become rife in a breed. |
Videx by Videx on 25 February 2011 - 11:29 |
THE ORTHOPEDIC FOUNDATION FOR ANIMALS
Bernese Mountain Dog, Bichon Frise, Boxer, Cairn Terrier, Collie, English Cocker Spaniel, CURRENTLY AVAILABLE DNA TESTS - INCLUDING RENAL DYSPLASIA http://www.offa.org/dna_alltest.html Renal Dysplasia in the following breeds German Shepherd, Golden Retriever, Gordon Setter, Havanese, Lhasa Apso, Miniature Schnauzer, Poodle, Portuguese Water Dog, Shetland Sheepdog, Shih Tzu, Soft Coated Wheaten Terrier, Tibetan Terrier, Weimeraner |
by Abby Normal on 25 February 2011 - 11:53 |
| That sounds like an incredibly interesting seminar, and there are several items on that agenda that really interest me, thanks for that. I understand that there have been problems with faulty results for flatcoats with the JRD test, and you have to bear in mind that this test is still in the research stages. Last I heard flatcoat breeders were re-submitting their results, since a 'wild gene' appeared to have been discovered. Perhaps they have addressed this in the test now, and will cover it in the seminar. I believe FCR breeders were re-testing, but I don't know what the outcome was as yet. Also, what I think is currently problematic is that there is no requirement for identification for the test, since it is sent directly to DogGenes by the owner/breeder. IMO, this method must be changed, and the test and identification undertaken at a vet surgery, and sent for testing by the vet to maintain the integrity of the test. I do know of 1 GSD that had this and died at age 4. It was heartbreaking. |
Abby Normal by Videx on 25 February 2011 - 13:20 |
| Far too many GSD are dying as a result of this disease. The FCR breed and a few other breeds have very serious levels of incidence of this disease, to such an extent that the carriers seriously outnumber the clears. I hope our GSD breed is not heading in that direction. My Kennel certainly isn't. LATEST INFORMATION OF RENAL DYSPLASIA
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by Abby Normal on 25 February 2011 - 15:21 |
| Videx Out of curiosity what numbers of GSD are recorded as dying from JRD, and where is that information available ? |
by NikkiF on 25 February 2011 - 16:42 |
| Abbey Normal - 2 females out of my 'A' litter who were diagnosed as carriers (one a double carrier) both had to be put to sleep before 18 months of age with JRD related problems. Both have been replaced but it was devastating for both lots of owners. 6 out of the litter of 8 tested as carriers - 2 of those tested as double carriers. Mother of the litter also diagnosed as a carrier is still fit and well at age 8 and none of the other puppies have shown any sign of illness but 2 is 2 too many! All my current breeding stock have tested 'clear' for JRD and I would urge anyone who has the slightest doubt to get the test done. Nikki Farley Nikonis GSD |
NikkiF by Abby Normal on 25 February 2011 - 17:02 |
| Nikki That's terrible for you, and dreadful for dogs and owners. As I said before I know of one dog who lived until he was 4 then died from this. He was a beautiful dog and it was tragic. I agree 2 is 2 too many. I always advocate that all available health testing for genetic diseases is used. If I were breeding, I would have the test done, and I am aware that you use the health tests available. So glad to hear you now have clear stock. There has however been a problem with the test, which I am hoping is now resolved. My question was, is this information recorded anywhere, and do we know how many GSD have been affected/diagnosed as clear or carriers, a database of results if you will. I have always 'heard' that incidence of JRD in the GSD are very low, but do not know what that statement is based on, hence the question. |
by Doppelganger on 25 February 2011 - 18:49 |
| More here: http://www.dogenes.com/ |
by Videx on 25 February 2011 - 19:48 |
| There is NO database of RD results in GSD and it is unlikely there will be one in the foreseeable future. RD DNA tests and results are confidential to the owner of the dog, just as it should be. There is NO requirement for the RD DNA test to be done through a GSD organisation with the requisite permission for the results to be published, as with the BVA/KS Hip & Elbow schemes and the SV Hip & Elbow schemes. There are GSD breeders who are RD DNA testing their dogs and the number is growing. What breeders who do not test should be aware of is that anyone who buys their puppies they can have them tested, and they may publish carriers. If anyone uses their Stud Dog(s), the offspring may be tested by the breeder who used him and by the buyers of the resultant puppies, and carriers may be published. For many breeders it may be a case in the future of "trying to shut the stable door after the horse has bolted". The mode of inheritance for RD is very clear and can be relatively easily traced, just as it can be relatively easily eliminated with the benefit of the test and in some cases patience. |
by Videx on 26 February 2011 - 00:25 |
| The degree of Kidney damage caused by Renal Dysplasia (RD) varies from carrier to carrier. In much the same way as Hip Dysplasia (HD) varies from affected dog to affected dog. With hips scores ranging from 0 to 53 for each hip and any dog with a low score up to a high score IS AFFECTED BY HD, and has hip dysplasia to some degree. RD can be very mild in some carriers and very severe in others and anywhere between. We should all realise that dogs can survive with around 50% kidney function or ONE kidney, in a similar way humans can survive with ONE kidney, which is clearly 50% of our normal TWO kidneys. Any RD carrier with kidneys that are impaired by RD less than 50% will live quite normally into old age. Those around the 50% may have problems IF they contract an illness or another disease which places increased stress on their kidneys or impairs them further. For these reasons MANY carriers survive without any signs of the RD disease and without their owners having any clue that they are indeed RD carriers. In a similar way to Hip Dysplasia where the majority of hip scores are below 50% of the maximum total of 106 score, it appears that the degree of kidney damage in the majority of RD carriers is below 50% of their kidneys function. Therefore, thankfully the majority will live normal lives. The real problems arise for the breeders and owners of RD carriers is first of all with some RD affected puppies being still born, and then those puppies with RD kidney damage close to and over 50% RD kidney damage. These are very likely to die at various ages, from a few months of age up to a few years, and when they are dying through kidney failure (diagnosed or not), there is nothing that can be done to save them. The majority of these deaths will not have been RD DNA tested and will not have been diagnosed as RD carriers, even while they are dying, so therefore most deaths through Renal Dysplasia disease go unrecorded. However I am absolutely sure with the availability of the RD DNA Test and the much wider Veterinary and public knowledge of the RD DNA Test, this will change. In the meantime I sincerely hope more breeders will seriously consider RD DNA testing their breeding stock. I also hope that our GSD breed can avoid the extremely high saturation levels of Renal Dysplasia that several other breeds are suffering with, |
by GranvilleGSD on 26 February 2011 - 03:30 |
| I just got an e-mail this week that the RD test results from Doggenes is now being accepted into the OFA database in the US if breeders/owners wish to include those test results. |
GranvilleGSD by Abby Normal on 26 February 2011 - 12:23 |
The FCR's found that they were breeding clear to clear and getting carriers, which is how the additional 'wild gene' was identified. Hopefully, they have now fully identified the mode of inheritance. Granville GSD, that is good news. It can only benefit the breed if results are published, at the breeder/owners wish. Maybe then we will get a real picture of what the situation is in the GSD population, I would hope to see those who lead the breed in the UK requesting or starting a similar initiative for health tests that become available. Agreed Videx, I believe that breeders should avail themselves of all health testing, as you know, and use the results wisely in breeding programmes. It is not my intention to discourage this in any way. I think it is imperative that a proper method of identification and verification be built into this test though. |
by Videx on 26 February 2011 - 12:59 |
| Dogenes have definitely sorted out the unique problem which arose with the FCR. Major problems beset many breeders who DNA test and publish their results, especially when they publish "carriers". These problems mainly stem from the abuse and/or misunderstanding of other breeders and the general public regarding DNA testing in general. They tend to immediately believe an affected dog should be culled, sterilised or banned from breeding. They also tend to taint the affected dogs kennel, its pedigree and all dogs connected with the pedigree in any way, even to ridiculous lengths. I would strongly urge people only to publish "CLEARS" - this offers the breeders and the public the knowledge as to who and where the "clears" are. With regards to the "carriers" the owners and the breeders normally require/desire confidential independent and knowledgeable advice of what options they may have. This is where major difficulties arise for the owner and breeder, who do they trust is their most significant problem to overcome. |
by Doppelganger on 26 February 2011 - 14:31 |
| I can't believe what I have just read - only publish the clears? You have got to be joking! Surely publishing all results is imperative if people are to get a true picture of the problem. If the inheritance is as we understand it a carrier mated to a clear will produce possibly 50% carriers, which can be tested to find out which are carriers and which are clear (there should be no affecteds). This would give the impression that only clears should be bred from and could remove from the gene pool some very good dogs who happen to be carriers and would not produce affecteds if mated to clears. I also don't understand your definition of carriers - my understanding is that carriers may pass the disease on but not actually be affected by it - I am wrong in this understanding? The KC I believe will add the DNA test results to a dog's records if the certificates are submitted. |
by Doppelganger on 26 February 2011 - 14:39 |
| PARENTS PROGENY Clear X Clear ALL CLEAR Homozygous mutant allele X Homozygous mutant allele ALL HOMOZYGOUS FOR THE MUTANT ALLELE Clear X Carrier 1/2 Clear : 1/2 Carrier Carrier X Carrier 1/2 Carrier: 1/4 Clear : 1/4 Homozygous mutant allele Clear X Homozygous mutant allele All Carrier Homozygous mutant allele X Carrier 1/2 Carrier : 1/2 Homozygous mutant allele -------------------------------------------------------------------------------- |
by Videx on 26 February 2011 - 14:41 |
| Doppelganger: What you posted above "this post" is NOT strictly accurate and therfore can be misleading. You should read the main body of the section first which puts your post into context. I have posted it below. edited by David Payne at 1810 ours GMT |
by Videx on 26 February 2011 - 14:55 |
Notice to the Flatcoated Retriever Society - by DOGenes
As you know DOGenes Inc. has been doing a Genetic test for renal dysplasia in your breed. This research although not funded by your breed was the fortunate result of extensive research in other breeds. It has now become apparent that a problem existed with the test (NOT THE GENE) due to a variant allele that is so far limited to three breeds. These are the Flatcoated Retrievers, Golden retrievers and Gordon setters. We were aware of this variant prior to the testing, in a single Gordon setter that was identified in the course of the research behind this test. This was discovered by chance in a DNA sequencing project looking a cross-section of breeds. At the time at we initiated the testing in your breed we had no clinical association affixed to this allele, so we have reported it as wild type, or clear. A surprising result was brought to my attention when two clear Flatcoated retrievers were bred, and all of the puppies tested as carrier. In order to investigate this, we did the obvious experiment, which was to confirm the genotype of the parents. New samples were submitted and the results were confirmed. Therefore it was impossible that the puppies were carriers and the investigation was escalated to determine why this happened. As it turns out, there was an interaction between the wild type allele, and the variant allele described above. This resulted in a molecule that interfered with the interpretation of the results. The test conditions were changed to eliminate this molecule from interfering with the results reporting. An outside independent laboratory confirmed the genotypes of the puppies. All of the puppies were carriers of the allelic variant. Upon further investigation, we have determined that this variant allele was present in the original clinical sample submitted for analysis. Therefore this variant is now associated with the disease. Unfortunately this is the nature of research and it is realized that it may be difficult to come to terms with, however we have gained knowledge that will ultimately benefit your breed. As a result of this technical issue, some of the test results were reported incorrectly. Some of the genotypes from clears and a few carriers will have to be re-assigned. The new test will have to be done at high resolution and we are trying to settle on a platform to do this, and this is going to slow down the process of re-assigning the genotypes. We are asking you to be patient so that we can move forward. When we are confident that the new test gives unfailing accurate results then we will retest all the DNA samples that were misclassified. We realize that this has caused stress for the owners of the animals involved, and while it is regrettable that this happened, it is better that this was found early in the testing rather than later. Addendum: The revised test will detect this allele and all genotypes completely accurately, and the outside lab has also verified this. In other words, they have validated the test. |
by Doppelganger on 26 February 2011 - 17:35 |
| My post was taken from the current Dogenes website. Whats the point trying to have a reasonable discussion when your attitude to anyone who questions what you write is so vitreolic? |
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