# Juvenile Renal Dysplasia (JRD) Testing Available



## cbrand

This test has been available in Poodles for a couple of years. It is unreliable and to date, OFA has refused to list the results.


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## bigredpoodle

I did see that today a friend emailed this information to me as well as the OFA response..


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## thestars

cbrand said:


> This test has been available in Poodles for a couple of years. It is unreliable and to date, OFA has refused to list the results.


Have you ever asked OFA why they refuse to list the results?


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## thestars

thestars said:


> Have you ever asked OFA why they refuse to list the results?


It is understandable that until patents and publications have been completed that many people will not accept the validity. We shouldn't just dismiss that the test is false or inaccurate because OFA hasn't approved it. What do you have to loose in testing? I recall other tests being in this same situation long ago. When are we to take this disease seriously, when a money making corporation "approves" of it. I think it will be a good $135 dollars or less well spent for the piece of mind that they are not carriers for myself anyways. Isn't that what counts? To me what counts for my future breeding program is that I've done everything possible to ensure my dogs are fully heath tested to what is available to us.


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## ArreauStandardPoodle

thestars said:


> It is understandable that until patents and publications have been completed that many people will not accept the validity. We shouldn't just dismiss that the test is false or inaccurate because OFA hasn't approved it. What do you have to loose in testing? I recall other tests being in this same situation long ago. When are we to take this disease seriously, when a money making corporation "approves" of it. I think it will be a good $135 dollars or less well spent for the piece of mind that they are not carriers for myself anyways. Isn't that what counts? To me what counts for my future breeding program is that I've done everything possible to ensure my dogs are fully heath tested to what is available to us.


Isn't this a bit hypocritical?? All we have seen and heard on other threads is how important it is to test and post on OFA and now we should do this test, even though it is not apporved by OFA??? For hips we have Pennhip and OVC and DSL, but oh my God, you have to use OFA testing because it is the "Gold Standard". This doesn't make any sense to me at all. Colour me stupid, but I just don't get this. Sorry.


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## bigredpoodle

Lots of tests have to start somewhere I am not at all certain that my NE is posted on OFA this was before this test was recognized and a cheek swab it was whole blood then. I have since been corrected and learned... But unless I send it to them it will never be posted . It is now recognized by OFA and I am very glad that I did it .. How can any test be hypocritical ... I agree with stars I know that i will be doing it ..Better to be safe than sorry ..


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## Trillium

A test cannot be hypocritical but people saying that a test is questionable unless it is posted on the ofa in one case and then saying that the inability to post it on the ofa (the gold standard?) doesn't matter in another case is hypocrital!! As well currently know that the dna test for fading that many were doing to be able to ensure that the dog doesn't fade doesn't tell the whole story. While this new JRD test may be a wonderful addition to the testing abilities of responsible breeder it may also prove to be a waste of time. Only time will tell if it is a useful tool or not. In the meantime it is critical to check pedigrees and not rely on a possibly false sense of security that this test may provide


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## thestars

ArreauStandardPoodle said:


> Isn't this a bit hypocritical?? All we have seen and heard on other threads is how important it is to test and post on OFA and now we should do this test, even though it is not apporved by OFA??? For hips we have Pennhip and OVC and DSL, but oh my God, you have to use OFA testing because it is the "Gold Standard". This doesn't make any sense to me at all. Colour me stupid, but I just don't get this. Sorry.


Not hypocritical at all, it is under review to be added to OFA per the doctor that created the test. Many breed groups are posting this as an additional test. Renal dysplasia research is also occurring at MIT-Broad Institute with focus on the Shih Tzu and Boxers, and at VetGen with a focus on Shih Tzu and Lhasa Apso. Since there are confirmed cases in Standard Poodles it doesn't hurt to test and once available to be posted on OFA then it should be just like PennHip and vWD and CERF are. OFA is still the "gold standard" Database of health testing and Easy for potential Puppy buyers to use. It's very simple to place a link to your dogs results directly from your own website to OFA. No one can rip off the result certificates nor can they make changes to the information. It's easy to view and you don't have to keep sending out copies of certificates via email, fax or even snail mail.


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## bigredpoodle

I agree however not everything is there unless it is new.. So how do I get everything posted there..


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## ArreauStandardPoodle

I am just having a difficult time wrapping my mind around the double standards here.


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## thestars

Trillium said:


> A test cannot be hypocritical but people saying that a test is questionable unless it is posted on the ofa in one case and then saying that the inability to post it on the ofa (the gold standard?) doesn't matter in another case is hypocrital!! As well currently know that the dna test for fading that many were doing to be able to ensure that the dog doesn't fade doesn't tell the whole story. While this new JRD test may be a wonderful addition to the testing abilities of responsible breeder it may also prove to be a waste of time. Only time will tell if it is a useful tool or not. In the meantime it is critical to check pedigrees and not rely on a possibly false sense of security that this test may provide


Arreau brought up the point that it might be hypocritical since it is not yet part of OFA and many folks feel that OFA is the "gold standard" of health tests. Many people on this forum as well as Breeder Referrals from dog clubs not just Poodle clubs tell potential puppy buyers to research OFA for health test results. Why not make it easier for the potential buyer to have the answers to their questions in a handy easily viewable format. OFA provides that. 

As for a waste of time, never is it a waste of time to test. How do you think they can get approval if dogs are not tested? Studies are not performed for free or government sponsored all the time. It takes Breeders whom are concerned about discovering and wanting to eliminate diseases. As for color testing, if they haven't been able to determine all the genes associated with color, graying and fading then you won't have a conclusive test but you do have important indicators for your breeding program. Such as a Red dog carrying a hidden brown gene.

Pedigrees won't tell you the whole story unless you know about every parent and their siblings and all the pups produced. Testing for JRD is at least a good indicator if your dog is a carrier of the disease. In my opinion and many others from other breed clubs, there are more positive points to getting the test done then there are negative.

I hope that one day ALL health screening tests will be compulsory for ALL dogs before they are used for breeding and details included on all Kennel Club Registration Certificates.


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## thestars

ArreauStandardPoodle said:


> I am just having a difficult time wrapping my mind around the double standards here.


Who said anything about double standards? Their are opinions and some opinions become the norm for the majority.

Testing is a good thing. You may prefer the labs that do your testing which is not a bad thing. It's just that OFA has become the norm faster then anyone else. Thus the reason why PennHip, CERF, VetGen and others are "jumping on the band wagon" to promote their testing and test results being included with OFA.


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## bigredpoodle

Sometimes you just wish you had never said anything doncha


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## ArreauStandardPoodle

bigredpoodle said:


> Sometimes you just wish you had never said anything doncha


Ha,ha,ha,ha,ha!!!


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## cbrand

I had Sabrina tested around 4 years ago. To my surprise she came back as JRD affected. 

Now, Poodles who are JRD affected usually die around age 2 and if not, then they are very, very ill. Sabrina who is almost 9 yrs old has no symptoms of JRD.

If Sabrina was "affected" then I would also expect that some of her 26 full siblings would be affected too, yet none of them has JRD. Finally, Sabrina has 12 offspring on the ground. None of those dogs has JRD either.

When the test 1st became available, tons of Poodle breeders ran out and had their dogs tested. Some huge # came back as carrier or affected and the number was out of sync with the actual number of JRD cases we see in Poodles.

I don't think the test is accurate and most breeders I know are not using the test.


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## KPoos

Which is probably the reason OFA isn't accepting the results.


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## roxy25

cbrand said:


> I had Sabrina tested around 4 years ago. To my surprise she came back as JRD affected.
> 
> Now, Poodles who are JRD affected usually die around age 2 and if not, then they are very, very ill. Sabrina who is almost 9 yrs old has no symptoms of JRD.
> 
> If Sabrina was "affected" then I would also expect that some of her 26 full siblings would be affected too, yet none of them has JRD. Finally, Sabrina has 12 offspring on the ground. None of those dogs has JRD either.
> 
> When the test 1st became available, tons of Poodle breeders ran out and had their dogs tested. Some huge # came back as carrier or affected and the number was out of sync with the actual number of JRD cases we see in Poodles.
> 
> I don't think the test is accurate and most breeders I know are not using the test.


Very good info cbrand , I never knew about the results. This is probably why OFA does not have it on the website.


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## thestars

Four years is a long time ago. I would think that they are changing or improving the testing as other labs like MIT and VetGen are now involved as well. I know of Poodles that were identified at 6 years of age. An ultrasound may have identified earlier that the organ was the size of a puppies rather then an adults. I consider the testing a tool. Even if it's for my own benefit.


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## bigredpoodle

ArreauStandardPoodle said:


> Ha,ha,ha,ha,ha!!!


This is twice you have found me amusing I am so glad that I can make you happy


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## ArreauStandardPoodle

bigredpoodle said:


> This is twice you have found me amusing I am so glad that I can make you happy


Me too. Thank you!!!!


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## KPoos

Well, I think that when the test becomes recognized as a valuable tool by a very well known and respectable organization like the OFA then that is the time to start testing your dogs. Before that and you are just part of the experimental process and not everyone that has more than one dog wants to drop $135 per dog for an experiment.


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## thestars

Even Versatility in Poodles states, "This is a worthy project for funding by a National Breed Club." http://www.vipoodle.org/docs/jrd.htm 

With experimenting how are we to resolve health issues? As I said previously, these studies and work aren't free or sponsored by big money. They are sponsored by people and breeders whom are concerned about finding and eliminating disease. IMO - I think $135 per dog to help these dedicated folks find tests and cures is beneficial. More beneficial then spending my money on a bunch of over priced dog stuff that is marketed to the masses.


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## KPoos

And if they are giving false positives like in the case of cbrand's dog, how are you supposed to trust that your money is being put to a use that will even benefit your breed later on?


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## thestars

One case is not a basis for statistics nor a conclusive study nor a basis to assist in an effort to find and eliminate this disease with various forms of JRD. By contributing to the testing you contribute to the study. 

Cbrand did not indicate that it was a false positive but that she has not experienced JRD symptoms with either Sabrina nor her siblings or offspring after being diagnoised as affected. She may be fine for her life with a mutation of the disease that may not affect as others affect the dog. I would ask what the pentrance percentage provided was? "If, for example, the penetrance. is 75%, then the chances of offspring to develop a disease are 3 out of 4. In the case of JRD, the penetrance is low with a penetrance estimated to be about 2-5%. Therefore only a small number of individuals with the mutation will show signs of the disease. However, they can pass the disease on to their offspring. This is why a genetic test is critical to manage JRD; this is the only way to eliminate this disorder. There may be risk factors or triggers that are yet undiscovered that may increase the chances of an individual to develop JRD."

"Most individual cases of JRD are treated by owners and veterinarians as isolated occurrences rather than as the manifestation of a genetic disease. This is why development of a genetic test is critical to the management and elimination of this disease. Further a genetic test can be used to show the mode of inheritance."

It is a worthy endevor to test. When it becomes available through VetGen or any other lab then it would be good to retest.


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## pudel luv

cbrand said:


> I had Sabrina tested around 4 years ago. To my surprise she came back as JRD affected.
> 
> Now, Poodles who are JRD affected usually die around age 2 and if not, then they are very, very ill. Sabrina who is almost 9 yrs old has no symptoms of JRD.
> 
> If Sabrina was "affected" then I would also expect that some of her 26 full siblings would be affected too, yet none of them has JRD. Finally, Sabrina has 12 offspring on the ground. None of those dogs has JRD either.
> 
> When the test 1st became available, tons of Poodle breeders ran out and had their dogs tested. Some huge # came back as carrier or affected and the number was out of sync with the actual number of JRD cases we see in Poodles.
> 
> I don't think the test is accurate and most breeders I know are not using the test.


Is the test available today, the same test of four years ago? Do test results clarify simply: carrier or affected, or is the data presented as a range?


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## KPoos

And what is your argument for not waiting until the test is recognized through OFA?


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## bigredpoodle

I tend to agree with stars on this one..It could be being treated as symtomatic..And you will never really know until it manifests again . Genetic tests have to start somewhere. And that is a good question Pudel Luv ,,,,is it the same test as 4 years ago ???? Look at now the NE test changed it is now a swab..


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## thestars

KPoos said:


> And what is your argument for not waiting until the test is recognized through OFA?


Plan and simple. As a future Responsible Breeder, I want to make every attempt in health testing that is currently available. OFA or non-OFA recognized.

"*IMPORTANT*
Most animals that harbor one
or two copies of this mutation will
have some minor defects in the
kidney that can only be seen on
biopsy. This does NOT affect the
overall health of the animal. Their
kidneys function normally and
appear normal on the gross scale.
Some may be biopsy negative. Any
of these cases can, however,
produce JRD affected progeny."


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## KPoos

But how can you be assured that this testing that's done on your dog is even worth the time, effort, and money spent if it hasn't been accepted as a recognizable test by a reputable organization like OFA? What if you found out that Bindi was affected and culled her from your breeding program only later to find out that the test was as worthless as the color gene test? Scientists "discover" things all of the time but it doesn't mean that in the long run, what they found is even valid. I mean if the test has been around longer than 4 years why hasn't OFA picked it up and stood behind it? 

It seems as if we will go round and round with this one. Many people believe, and we are talking vets as well, that SA tests are worthless but yet OFA recognizes and publishes those test results. You've got to do the research and do what you feel is necessary with your dogs and that's what it boils down to at the end of the day. I understand your points, you are wanting to possibly prevent this disease from spreading throughout the breed by advising all breeders to use this test to determine who is a carrier and who is affected or not but if the results are iffy, you aren't any closer to determining that point than before you went and had the test done. Agree to disagree I suppose.


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## Trillium

KPoos said:


> But how can you be assured that this testing that's done on your dog is even worth the time, effort, and money spent if it hasn't been accepted as a recognizable test by a reputable organization like OFA? What if you found out that Bindi was affected and culled her from your breeding program only later to find out that the test was as worthless as the color gene test? Scientists "discover" things all of the time but it doesn't mean that in the long run, what they found is even valid. I mean if the test has been around longer than 4 years why hasn't OFA picked it up and stood behind it?
> 
> It seems as if we will go round and round with this one. Many people believe, and we are talking vets as well, that SA tests are worthless but yet OFA recognizes and publishes those test results. You've got to do the research and do what you feel is necessary with your dogs and that's what it boils down to at the end of the day. I understand your points, you are wanting to possibly prevent this disease from spreading throughout the breed by advising all breeders to use this test to determine who is a carrier and who is affected or not but if the results are iffy, you aren't any closer to determining that point than before you went and had the test done. Agree to disagree I suppose.


Well said Kpoos. I agree with you.


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## thestars

KPoos said:


> But how can you be assured that this testing that's done on your dog is even worth the time, effort, and money spent if it hasn't been accepted as a recognizable test by a reputable organization like OFA? What if you found out that Bindi was affected and culled her from your breeding program only later to find out that the test was as worthless as the color gene test? Scientists "discover" things all of the time but it doesn't mean that in the long run, what they found is even valid. I mean if the test has been around longer than 4 years why hasn't OFA picked it up and stood behind it?
> 
> It seems as if we will go round and round with this one. Many people believe, and we are talking vets as well, that SA tests are worthless but yet OFA recognizes and publishes those test results. You've got to do the research and do what you feel is necessary with your dogs and that's what it boils down to at the end of the day. I understand your points, you are wanting to possibly prevent this disease from spreading throughout the breed by advising all breeders to use this test to determine who is a carrier and who is affected or not but if the results are iffy, you aren't any closer to determining that point than before you went and had the test done. Agree to disagree I suppose.


Were any of the other tests that are now published by OFA valid before they were "officially recognized" by OFA. Yes, they were. How long did it take them to be recognized by OFA? OFA even promotes Studies. Note OFA's objectives http://www.offa.org/objectives.html and all the current Labs they currently promote; http://www.offa.org/dnatest.html

If I were to find out that she was "affected or carrier" it would give me additional knowledge not necessarily to cull her from a breeding program. There are many forms of the mutation so I would want to find out more. There is much yet to learn on this disease as well as many other disease affecting poodles. I am open to all possible testing to help with research. If we don't get involved then we may never know. I for one can not sit on the sidelines and let other individuals and breeders make the effort and offer up their animals for testing to find the answers but not do it myself because it is not yet recognized by OFA.


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## thestars

"The American Shih Tzu Club is actively involved in a research project to find a genetic marker for renal dysplasia, which is being done by VetGen in Michigan. Locating such a genetic marker will mean that we will ultimately be able to determine whether an animal has any degree of renal dysplasia through a simple and noninvasive test done on a cheek swab. Even puppies could be tested at a relatively young age. Once the marker is located, VetGen will be able to perform the cheek swab test on any Shih Tzu for about $120, with discounts for a large number of dogs tested at one time. Hopefully, such a test will ultimately eliminate the disease from our own and other breeds.

At this point, due to the aid of the Lhasa Apso breeders who initiated the research project, VetGen researchers have narrowed the search to only three genes and expect to locate such a marker within two years.(_this was from 2005_) They are now also working with Shih Tzu. To locate the specific marker, they are seeking cheek swab samples from Shih Tzu known to be affected by renal dysplasia through wide wedge biopsies and dogs that have produced offspring known to be affected through the results of such biopsies. The dogs do not have to be related, and their identity will remain strictly confidential. Please, if you own or know of such a dog or dogs, contact Joann Gustafson of the ASTC Renal Dysplasia Committee at 1829 F & S Grade Road, Sedro Wooley, WA 98284-9664. She will send you cheek swabs (you can take the samples yourself) and instructions for sending the samples to VetGen. Also, ask your veterinarian if he knows of any such dogs and is willing to contact their owners with this information. The sooner we collect the needed samples, the sooner the test will be available. If you can, for the sake of the breed we all love, please do your part to help us eliminate this disease."

VetGen is making progress on their JRD testing. If Breeders and individuals do not help then we reduce our chances dramatically to assist in their efforts on our behalf.

"George Lees, DVM of Texas A & M University is currently doing research on Juvenile Renal Disease in Cocker Spaniels. Both VetGen, in Michigan, and the Canine Genome Project at the University of California, Berkeley, are searching for the gene marker(s) for the Juvenile Renal Disease seen in Soft Coated Wheaten Terriers."

If we all took the wait and see attitude then nothing would get done or discovered. We would become stagnant and then others that step up to take on the challenge with be successful.

I am encouraging our group to look at all the research being done and take part if you feel inclined to help our selected breed. And that is not just JRD but any other disease that are affecting our breed.


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## cbrand

thestars said:


> Testing is now available for JRD.
> http://www.dogenes.com/
> 
> "We understand that the test will be accepted by OFA once our manuscript is accepted by peer review. This is currently under revision and I hope that this will happen in the near future.
> Sincerely,
> Mary H. Whiteley, Ph.D
> DOGenes Inc."


I got Sabrina tested over 4 years ago (as did a whole bunch of Poodle breeders when the test first came out) and DOGenes still hasn't gotten their test peer reviewed and accepted by OFA.

In the mean time, OFA has accepted new tests for Neonatal Encephalopathy and Degenerative Myelopathy, all which were developed in the last couple of years and certainly after the JRD test first came out.

The JRD test still isn't accurate and until it passes muster with OFA, I won't be doing it.


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## Taxi

There is two situations for your dog. 1) if it is a carrier 2) if it has the disease. After doing a little research and reading this thread. "If" the DNA test does work, it will only tell you if the dog is a carrier of JRD but it will not tell you if it has JRD. "Definitive diagnosis of JRD is done by a wedge biopsy which reveals dysplastic lesions, including abnormal ducts, and glomeruli. Individuals with an abnormal biopsy can be asymptomatic, showing no signs of the disease..." (see below) Please correct me if I am wrong here. 

--------------------------------
http://www.dogenes.com/
--------------------------
How is JRD inherited? More...

The mode of inheritance of JRD has been widely debated, as this disease can
present itself with a wide range of symptoms and pathological findings.
Definitive diagnosis of JRD is done by a wedge biopsy which reveals dysplastic
lesions, including abnormal ducts, and glomeruli. Individuals with an abnormal
biopsy can be asymptomatic, showing no signs of the disease, On the other
hand, they may present with classic signs of chronic end stage renal failure, or
somewhere between these two extremes. Given this broad spectrum of
symptoms affected individuals often go unnoticed, and remain in the breeding
population. This is why development of a genetic test is critical to the
management and elimination of this disease. Further a genetic test can be used
to show the mode of inheritance .

Through pedigree studies, the mode of inheritance was finally revealed as
Dominant with Incomplete Penetrance.

What does Dominant with Incomplete Penetrance mean? More...

Dominant with incomplete penetrance refers to a situation where an inherited mutation may or may not be expressed in an individual.



The traits that we see in an individual are collectively known as the "phenotype", while the "genotype" refers to genetic constitution or makeup of
an individual.

Penetrance refers to the frequency that the phenotype (or some characteristics of the disease) is observed. If, for example, the penetrance. is 75%, then the chances of offspring to develop a disease are 3 out of 4. In the case of JRD, the penetrance is low with a penetrance. estimated to be about 2-5%. Therefore only a small number of individuals with the mutation will show signs of the disease. However, they can pass the disease on to their offspring. This is why a genetic test is critical to manage JRD; this is the only way to
eliminate this disorder. There may be risk factors or triggers that are yet undiscovered that may increase the chances of an individual to develop JRD.

A mutation is a permanent change in the DNA sequence of a gene, whether itis good, bad or neutral. Mutations that cause a genetic disease can be inherited as dominant where one bad copy of the gene is sufficient to cause disease or a phenotypic trait to be observed, or recessive where two bad or mutated copies of the gene are needed to cause disease or phenotypic trait to be observed.

All chromosomes exist in pairs in the nucleus of cells. Each pair is comprised of one chromosome from the sire and one from the dam. Therefore, every animal has two copies of every gene. In dogs there are 78 chromosomes, or 39 pairs.
-----------------------

Development of a Genetic test at DOGenes More...

During the development of the fetus, certain genes act in a pathway or cascade to direct the development of the various organs and structures that make up the body (think of it as dominos: if one domino is missing the other ones wont perform their task in the array). Since every cell contains two copies of every gene, one non-mutated copy may be sufficient to complete to cascade (recessive inheritance). The human genome contains about 20,000 to 25,000 genes, and the canine genome is likely to contain about the same
number. Of these several hundred or More... may be dedicated to the maturation of specific organs. Not all of these Òtissue specificÓ genes are absolutely essential to the development of specific cell types, as has been shown in Òknockout miceÓ, where genes have been completely eliminated with no observable effect on the animal. In the case of renal dysplasia in model organisms such as the mouse, mutated transcription factors (genes that code for proteins that turn on other genes) or growth factors (genes that code for
proteins that promote the growth of cells), have been implicated in causing the disease.


One approach to discover genes that are cause genetic diseases is to use candidate genes known to cause specific diseases in model organisms, like the mouse, rats, zebra fish or even the lowly fruit fly.


This was the approach used in the quest to find the mutation for JRD in dogs. After DNA sequencing six candidate genes, the causative mutation was finally uncovered in a gene in Lhasa apsos, and Shih Tzus. This mutation was then discovered in other breeds with JRD, and a direct genetic test is now available for many breeds afflicted with this disorder.


Through pedigree studies, the mode of inheritance was finally revealed as Dominant with Incomplete Penetrance.
How can the new test be used to eliminate this disorder from a breed
without compromising the gene pool? More...

Genetic tests are designed to manage and eventually eliminate disorders without compromising the diversity in a gene pool. If you have just found out that your dog carries the mutation for juvenile renal dysplasia, do not panic. Now you have the opportunity to manage and eliminate this disease. The frequency of this mutation is extremely high in many breeds. This mutation has been elusive and impossible to eliminate prior to the development of a genetic test, as the disease appears sporadically because it is inherited with incomplete penetrance, meaning that an animal that carries this mutation may or may not show clinical signs of the disease, but can still pass it on to the next generation.

As in any breeding you must consider the positive and negative traits of each partner, and how the parents traits can best balance and compliment each
other.

All dogs (and living organisms) are carriers of multiple mutations.

If a genetic disease is produced in an animal, it is not necessarily the result of poor breeding practices, but is the nature of inheritance as a random event. Although the exact mutation rate for canines is difficult to determine, by extrapolation from other species, there is a good chance that every individual produced has a new mutation in some gene. Therefore, with every generation of breeding, new mutations arise, but since they are present at a low frequency, they are generally lost in subsequent breeding. There is no such
thing as a perfect animal!


Chromosomes exist in cells in pairs, one from the sire and one from the dam. Dogs have 39 sets of chromosomes. Each set or pair is composed of two chromosomes, one from the sire, and one from the dam. In the case of a simple recessive mutation, one of the chromosomes, either from the sire or the dam, makes enough protein from for the animal to survive. Therefore, the Òwild typeÓ chromosome of the pair provides enough protein (gene product) to compensate for the chromosome that carries a mutation. In the case of a
dominant mutation, only one copy of the chromosome carrying the mutation is necessary to produce disease.


With the identification of one of the many mutations that your animal carries, you can now proceed to at least eliminate this identified mutation, and not inadvertently select for another deleterious mutation that your animal carries. Wholesale elimination of carriers is the worst decision that you can make as this would deplete the gene pool.


As in any breeding you must consider the positive and negative traits of each partner, and how the parents traits can best balance and complement each other.

What information does this DNA test actually tell the breeder? More...
The DNA test results are reported as follows:

a) Carrier - (one copy of the JRD mutation)

b) Homozygous mutant allele = Homozygote (two copies of the JRD mutation)

c) Clear - No copies o f the JRD mutation are present.

With a & b results above Ñ the animal is potentially affected by JRD or
could pass it on to its progeny.


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## bigredpoodle

Wow that was VERY informative .. Thanks so much .....So If I am reading this right all Breeding dogs should be tested for this disease as one carrier of the breeding pair can pass it on to the pups..
Unlike vW or NE where only one parent need be cleared ..
Is that right ?


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## roulette

*Renal dysplasia*

I almost hate to re-open this thread, but I see on the OFA site that they DO accept and publish results of RD testing by DOGenes. Alas, I could only find ONE poodle listed that had results at their site. My question...why doesn't anyone test? Patriot poodles, wondering if Bindi is tested, since you seem to support the testing? (nice litter, BTW!) I personally don't think that $125/test is a huge amount to pay to commit to tracking and limiting this genetic defect. Clubs and clinics could even reduce the price, right? Is it time for us to make a commitment to preserving our beloved breed? I would love to hear negative and positive opinions, as all information (esp from the learned poodle forum contributors) widens our circle of knowledge. My apologies if this is already been beaten to death on another thread...


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## thestars

roulette said:


> I almost hate to re-open this thread, but I see on the OFA site that they DO accept and publish results of RD testing by DOGenes. Alas, I could only find ONE poodle listed that had results at their site. My question...why doesn't anyone test? Patriot poodles, wondering if Bindi is tested, since you seem to support the testing? (nice litter, BTW!) I personally don't think that $125/test is a huge amount to pay to commit to tracking and limiting this genetic defect. Clubs and clinics could even reduce the price, right? Is it time for us to make a commitment to preserving our beloved breed? I would love to hear negative and positive opinions, as all information (esp from the learned poodle forum contributors) widens our circle of knowledge. My apologies if this is already been beaten to death on another thread...


Please do question as it assists in teaching others what is going on in the breed. There are alot more Spoos that have tested that are not in the Database. At this time, I believe there is more work that needs to be done to this test. I believe that there are to many false positives. After talking to several breeders whom have been breeding lines 20 to 60 years, this is a fairly uncommon disease in SPoos. In one line that is over 55 years of this particular family of Spoos there was only one affected dog whom died at the age of two. Many long time breeders do not plan to do this test. As far as any of these breeders have indicated, the disease is fairly rare in the breed. If the percentages they estimated, that 80% of all Spoos are carriers, then I would see that there would be many more folks bringing in their Spoos for this disorder to there vet and it would be a bigger problem and we'd see a shorter lifespan for our Spoos. I do hope one day that they will get it right. I truly believe we can not only help canines with JRD but humans as well. So for now, Bindi will not be tested. Thanks, Jean


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## PoodlePowerBC

I wonder how many dogs have been affected that we just never hear about. I for one would be thankful to find a breeder that tests for this in my next Spoo. I've read a few articles on what some poor people have been through with their dogs that have suffered this disease, it's horrible. I'm not a breeder, but I would hope that reputable breeders would be willing to test, to try lessening the likelihood of me or anyone having to suffer through this with our best friends


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## roulette

If alot more spoos have been tested, I have to wonder why the results are not in the database? It seems every vet journal article I can find cite Standard Poodles as particularly genetically predisposed to this condition. I, personally, am fairly acquainted with renal dysfunction, as my daughter has had "kidney issues" since an early age. One can be completely asymptomatic with only 25% kidney function..when the scale tips past that is when symptoms begin to occur. So..difficult to diagnose in early stages. I also wonder how "false positives" are determined, thru autopsy, or biopsy? If the OFA peer review has accepted the genetic test, has it still not been vetted appropriately? As kidney function can decline thru a lifetime, could many cases go undiagnosed, and simply be registered as a longevity statistic?(ergo: not just a Juvenile disorder). Still just trying to wrap my mind around the general disdain for this seemingly landmark test.. as due to it's incomplete penetrance factor, it seems it would be fairly simple to breed away from this predisposition within a couple of generations, withOUT compromising genetic diversity. I completely understand the "it is what is is" notion of genetic tests as tools, never guaranteeing a puppy that is free of defects..but as another tool, together it seems we could really move to preserve the health of our breed. Unfortunately, unless a larger group of breeders commit, the rest are left to "hope" for the best outcome. It is my opinion that testing for this disease (if reliable) is MORE important than Cerf or hips/elbows..a dog can LIVE with blindness or degrees of bad hips, but incomplete kidney function? So, I guess what I would like to hear about on the forum, is references for inaccuracy and unreliability of the DNA test..any links or experience would be welcome.


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## PoodleChick

I believe one of the reasons that not many dogs are listed in OFA is due to the cloud of mystery around the test itself. Early on, Dr Whitely was coming out with many, many positives, even in dogs who had produced many puppies, now grown and healthy. 
Since this is a juvenile disease you would think that there would be many more affected dogs in the population. Since Dr Whitely was working on a patent for this test she was by necessity pretty secretive and I personally do not think that sat well with breeders who got positive results back. Of course they are going to have more questions and doubts and if she answered their questions they were very vague answers. Part of the problem I think is in discussing genetics with non-geneticists, but I know of vets and very knowledgeable breeders who were mystified by her answers. The other issue I see is that some breeders would be very quick to eliminate positive dogs from the breeding pool. They may "say" they would not but they would. And there is just not enough known about what a positive result really means to do that. Dr Whitely herself has said on a number of occasions that a positive result is only one indicator of "something" with the kidneys and should not be used as a determining factor in breeding that dog or not. If I were a breeder and had a dog with a positive result I would think twice before posting it, with the test reputation being what it is right now. Alot of the people who have responded to the thread (starting back in 2010) were owners like me; we want a healthy dog. But, I did see that many were bemoaning the fact that breeders seemed to be ignoring the test or the results. I don't think that depiction is accurate but I would say they are cautious about it. As they should be. I think it is human nature to want a simple answer to a complicated question: Should this dog be bred (or should I get a dog from this breeding)? But this is not a simple answer type question. 
Lynne


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## roulette

From what I understand, the test results are not a simple "positive" or "negative", but rather a measured degree of penetrance. This information can be used to breed a healthier animal:
Modes of inheritance can be many and varied. Most breeders understand "recessive" where you require two mutant alleles to have an affected dog.
I note that in dogenes initial reports, they just reported either clear, one mutant allele or two mutant alleles or as it is referred to as, homozygous. Now there is the added notation on both the report for single or homozygous, that the dog is RD susceptible.
Because the mode of inheritance is dominant with incomplete penetrance, it only takes one mutant allele to have an affected dog. Having a mutant allele does not mean you will have an affected dog. That is, renal dysplasia is a disease that affects the development of the kidneys. All dogs are born with immature kidneys, made of fetal kidney tissue. By about eight weeks of age, the kidneys will have developed into mature kidneys. This transition does not complete itself if the dog is affected with renal dysplasia. It is manifested by the presence of fetal or immature glomeruli and/or tubules within an otherwise mature kidney. The percentage of immature glomeruli present determines how affected the dog is. The dogs are classified as normal, borderline, mildly affected, moderately affected, moderately severe and severly affected. The degree of affectedness determines the dog's life span. Mildly affected dogs will live an asymptomatic, normal lifespan!
DNA testing does not and cannot predict how many glomeruli will fail to mature, and hence the degree by which the dog is affected, if at all.
So..if you Do have breeding dogs with this mutant allele, can you not fashion a breeding program with other tested dogs to eliminate it? Maybe I should contact OFA for their response?


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## outwest

Hmmm...another test I didn't know much about. SO many tests!!!!


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## ArreauStandardPoodle

Well Outwest, the nice thing about a lot of them is they are once in a lifetime. Are Bonnie's parents tested? If they are and are clear, you can avoid doing vWd, NE and DM because she'd be clear by parentage.


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## CharismaticMillie

ArreauStandardPoodle said:


> Well Outwest, the nice thing about a lot of them is they are once in a lifetime. Are Bonnie's parents tested? If they are and are clear, you can avoid doing vWd, NE and DM because she'd be clear by parentage.


Except unfortunately I found through experience that it isn't that simple. My dog's parents were both tested and clear/normal for VWD. One was tested and clear/normal for NE while the other was clear by parentage. Now, OFA only allows one generation of clear by parentage so if one of Bonnie's parents is clear by parentage, you will still have to do that test.  Also, I still had to do the VWD test even though both of my boy's parents were clear because OFA claimed that they could not give him the label of clear by parentage unless his dam/sire as well as he were all DNA profiled. So it was cheaper to just have the test done than to ask for his parents to be DNA profiled and for him to be DNA profiled. Is this a new policy of OFA? Is this only if I wanted them to officially post it on their website? Anyway, I went ahead and did it but feel like I wasted my money! http://www.offa.org/dnacbp.html


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## outwest

Both were cleared for VWD by parentage. Both have been DNA profiled, also. I just started with eyes and hips because those are easiest to knock out. After I get the official preliminary OFA results and if they are good, then I will start doing the other things.

All the other tests the parents had themselves, so maybe mine can be clear by parentage for at least one.


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