Primary Ciliary Dyskinesia in OES article
See http://www.oeshealth.org/ , scroll down to Emerging Health Condition and click More to read the entire informative article. Kristine |
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| Thank you for sharing the link. |
Thanks for posting the link Kristine.  |
| Nope - don't thank me. Thanks go the breeders, clubs and researchers who wanted that information out there for all of us. It's a great article.
Kristine |
| Good News on this Genetic Disease, the university of Liege now have a test to determine if a dog is affected/carrier/healthy. Blood Sample: +/+ = healthy dog MUT1/+ = carrier dog MUT1/MUT1 = affected dog Furthermore we received Zorro's results today and he is healthy +/+. I have asked for further info regarding where to send blood samples and the costs involved to do the DNA test. |
| Stewart, that is AWESOME!!!!!!!!!
And how quickly they developed the test. Wow! Please keep us posted as you learn more about the DNA testing 
Kristine |
| Kristine here you can see the reply from the University and the person who is in charge, maybe you could contact her for more details.
http://photos.oes.org/albums/userpics/12574/PCD%20test%20results.pdf |
| Thanks Stewart!
I already mentioned the existence of the test to a couple of members of the HRC committee. You know how my mind works - if such a test is commercially available I'm already considering the possibilities. As an aside, it would be helpful if these results, like the MDR1, would be listed in an open registry. If Zorro is bred and the bitch he is bred to is tested as well and also comes back +/+, the nice thing is that you don't have to test the resulting litter. They are effectively cleared by pedigree if you will. Given the expense generally involved in genetic testing it's nice when you need only test two dogs and not, for example ten. I am still amazed by how quickly they located the mutation responsible. I have a dozen questions on how they did it, are there other breeds with similiar mutations where they had already identified the mutation and this sped things along and.... but, you're right, it makes the most sense to contact the researchers directly. So happy for you. And Zorro's breeder, who deserves  for this. And for the breed as well.
Kristine |
Mad Dog wrote: Thanks Stewart!
I already mentioned the existence of the test to a couple of members of the HRC committee. You know how my mind works - if such a test is commercially available I'm already considering the possibilities. As an aside, it would be helpful if these results, like the MDR1, would be listed in an open registry. If Zorro is bred and the bitch he is bred to is tested as well and also comes back +/+, the nice thing is that you don't have to test the resulting litter. They are effectively cleared by pedigree if you will. Given the expense generally involved in genetic testing it's nice when you need only test two dogs and not, for example ten. I am still amazed by how quickly they located the mutation responsible. I have a dozen questions on how they did it, are there other breeds with similiar mutations where they had already identified the mutation and this sped things along and.... but, you're right, it makes the most sense to contact the researchers directly. So happy for you. And Zorro's breeder, who deserves for this. And for the breed as well.Kristine Due to the help they received from Chris and a Danish breeder who also had a litter this year with affected puppies they were of course able to get fresh affected blood to test, I am happy that a test is available and that some people are being responsible enough to have their dogs tested but unfortunately not everybody sees things this way. I think Anne-Christine could help you more and it is also in their interest to do so. Have a nice weekend Stewart |
Mad Dog wrote: Thanks Stewart!
I already mentioned the existence of the test to a couple of members of the HRC committee. You know how my mind works - if such a test is commercially available I'm already considering the possibilities. As an aside, it would be helpful if these results, like the MDR1, would be listed in an open registry. If Zorro is bred and the bitch he is bred to is tested as well and also comes back +/+, the nice thing is that you don't have to test the resulting litter. They are effectively cleared by pedigree if you will. Given the expense generally involved in genetic testing it's nice when you need only test two dogs and not, for example ten. I am still amazed by how quickly they located the mutation responsible. I have a dozen questions on how they did it, are there other breeds with similiar mutations where they had already identified the mutation and this sped things along and.... but, you're right, it makes the most sense to contact the researchers directly. So happy for you. And Zorro's breeder, who deserves for this. And for the breed as well.Kristine Due to the help they received from Chris and a Danish breeder who also had a litter this year with affected puppies they were of course able to get fresh affected blood to test, I am happy that a test is available and that some people are being responsible enough to have their dogs tested but unfortunately not everybody sees things this way. I think Anne-Christine could help you more and it is also in their interest to do so. Have a nice weekend Stewart |
Mad Dog wrote: Thanks .I am still amazed by how quickly they located the mutation responsible. I have a dozen questions on how they did it, are there other breeds with similiar mutations where they had already identified the mutation and this sped things along and.... but, you're right, it makes the most sense to contact the researchers directly. Yes, it was fast, but putting a DNA expert working on the DNA research sure was one of the keys. Frankly, I'm amazed that the DNA research on OES in America is in the hands of people that are no DNA experts. dairymaid wrote: I am happy that a test is available and that some people are being responsible enough to have their dogs tested but unfortunately not everybody sees things this way.
Well, I've sent several e-mails both to Frederic and Anne-Christine as I'd be interested in testing my dogs and, so far, I haven't got any answer back. Frankly, I'm close to giving up ... |
SeaLords wrote: [Yes, it was fast, but putting a DNA expert working on the DNA research sure was one of the keys. Frankly, I'm amazed that the DNA research on OES in America is in the hands of people that are no DNA experts.
Would you care to expand upon that? Because after your statement that the Ostrander study had all the samples it needed, which was blatantly incorrect, you'll have to pardon my scepticism that you know anything about any of the American research projects. Kristine |
| Well, what I said at the time is that the request for samples was old so most likely they weren't needing any more samples. I didn't say they HAD all the samples they needed.
As to the rest, well Dr. Olby is a neurologist, as Dr. Frederic Billen is an internal medicine doctor with a special interest in respiratory diseases. Dr. Billen identified the disease, but the DNA work was done by Anne-Christine, a DNA expert. Dr. Olby diagnoses the CA cases, and that is her competence, but who's doing the DNA work, and what is their background? Maybe you can explain us, then. As to the PRA research, sure you can also tell us which have been the achievements of Dr. Simon Petersen-Jones in the DNA research field, namely which DNA tests he has developed for other breeds. |
| The PRA research grant(OES) in the US has expired and will not be renewed at this time due to lack of DNA to work with. There are occasional cases of PRA in the US in OES, even reasonably current ones, but either not very many or they're being missed - which I can see happening with late onset dogs, I guess - or...? Without a reasonable sample of affected dogs, you're pouring scarce research money down the drain. If the situation warrants, I'm sure we'll re-examine the issue.
Is there ongoing research in Europe somewhere? If so, the breed would probably be better served by any American dogs that are diagnosed going forward providing DNA samples for that research, thus pooling the cases that occur. CA is somewhat similarly hampered. They only have DNA from 16 affected dogs. Good for (apparent) rate of frequency in breed, bad for research. They were working on a linkage analysis and really thought they were close to narrowing it down at the end of last year, but that didn't pan out. They're using the newer SNP chips technology, only possible through collaboration with (and financially subsidized by) a NIH (human research) lab, still time consuming and incredibly expensive, There are four breeds, including ours, which have a similar form of CA (late onset) and the hope is that if they can find the marker in one, that will narrow down where to search for the others (the markers need not be in the same region, but it's a good starting point) With PCD, even with the dedication of two breeders, I don't have a sense that there was a particularly large sample of afflicted dogs. My question, among others, to the researchers would be: did you already thanks to previous research have a sense of where to start searching? As noted, that helps and can yield relatively rapid success. As for American OES research, the remainder of the OESCA sponsored research that I can think of off the top of my head is much more recent and multi-breed (supported by a number of breed clubs along with the AKC Canine Health Foundation - CHF) which is becoming more the norm here. The cancer study we just joined is a collaboration between researchers at North Carolina State University & the University of Minnesota and is in part funded by the CHF as well as the NIH. Any success, or non-success there will most likely be in no small part dependant on owner/breeder assistance in terms of donating DNA of affected dogs (we have blood banked on dogs who have passed and died at a ripe old age cancer free for the comparison DNA that we can draw from). In this, at least, we know frequency is not an issue. Kristine |
| In Europe, cases of PRA are also sporadic. The last confirmed public case was a bitch in Germany some 5 years ago. There are several laboratories and Universities investigating PRA in dogs, but I doubt that a study on OES alone is being carried out. Some 2 years ago, Optigen was receiving (and testing for free ...) samples from any PRA affected dog, from whatever breed. I contacted the president of the German OES Club, as she had access to that affected bitch, and suggested she contacted the owners of that bitch in order to profit from that opportunity. Optigen, for those of you that are not aware of it, has developed DNA tests for some 7 different forms of PRA that cover more than 30 breeds, so if there was a laboratory that knew what to look for was this one. Well, the answer that I got back from the german club was that samples from that bitch had already been sent to Dr. Simon Petersen-Jones (that, to my knowledge, and in spite many years studying Shelties, never developed a single useable test). In between the lines, the answer revealed that there was no interest in trying Optigen ...
When the article by Dr. Billen on PCD was written, they had DNA samples from 5 affected dogs, belonging to Chris. If, as Stewart says, they only received samples from affected dogs from another breeder, that makes less than 10 affected dogs in total. CA ... To my knowledge, Dr. Olby has started collecting DNA samples simultaneously in AmStaffs and OES (in 2005?). It seems that the removal on dogs from the breeding pool has been effective in lowering the frequence of disease in OES, so the difficulty in getting samples (that still are higher than the 10 or so used in the PCD research). However, in AmStaffs, the frequence of carriers was (and is ...) estimated at 40%, so there was plenty of material to work with. After 2 years or so of research, Dr. Olby had (only) identified the cromosome where the defect is, in both breeds. In 2007, a french laboratory released a DNA for CA in AmStaffs. Did they start the research before Dr. Olby? Or simply were they more efficient? Now the next step is using SNP chips. I must stress that I'm no DNA expert so I may say big nonsenses but ... to my knowledge SNP chips are used to screen certain regions of the cromosomes where repetitive DNA sequences are present. More or less like markers, with markers being bigger in size. It may well be that mutation has ocurred in the gene that leads to CA only, leaving the markers unaffected. So a question I have in my head is: why looking at markers instead of trying to locate the gene itself? The last DNA tests that have been put on the market are direct (mutant) tests, only the test for JDCM in the PWD is a linkage test. And this leads to my next question: has the OESCA sought the opinion of a DNA expert to evaluate the proposal of Dr. Olby? |
| I spoke to Anne-Christine Merveille today regarding the test for PCD, she has promised to send an e-mail with details on where to send the blood samples and how much the test will cost, according to her the University intends to continue the tests and they are working on the details at the moment. |
Good news, Stewart, please let me know any news  |
| I'm not familar with the Am Staff research beyond Olby's collaboration to confirm the DNA test matched the CA found in American dogs, not necessarily a given. The ESS people have run into this problem with PRA in their breed, with the DNA test developed for the breed in the US not picking up a number of European dogs that are phenotypically affected, suggesting multiple forms of PRA within the breed, the American advances thus still leaving European breeders somewhat in the dark, no pun intended. Hopefully not something we'll run into for any of the diseases being investigated in our breed given how intermingled our pedigrees are, though given the number of PCD mutations known in humans, it is a possibility we should be mindful of I suppose.
Olby also used the 2008 AmStaff results to see if that could bring her further along in the breeds she's working on with smaller samples, but that wasn't the case, which isn't too surprising given that there are a number of other clinical differences. Would we jump CA research ships if we thought another research team could get the job done more quickly? I highly doubt it at this point in time, and especially not with the NIH involved. If certain European (or Australian, for that matter) labs show a distinct advantage in certain or even all areas of research, is this something we might consider collaboratively in the future? I would certainly think so. Though it may come down to funding restrictions, not within the club, but from the CHF. As well, we have to consider NIH which has really jumped on the canine research bandwagon having recognized the possibilities for human research benefits as well. Their support behind a research effort opens up possibilites we've never been able to contemplate before. Time will tell. I'm rather surprised none of the European clubs pursued PRA research in Europe given the greater attention it has received there, more in line with CA here, including an open carrier list. Stewart, thanks for keeping us apprised of the PCD genetic testing. Hopefully one less thing to worry about. Kristine |
Mad Dog wrote: I'm rather surprised none of the European clubs pursued PRA research in Europe given the greater attention it has received there, more in line with CA here, including an open carrier list.
Why are you surprised? The biggest amount of PRA cases in Europe were reported in the 80's, when DNA technologies weren't even on the horizon, so the measures taken at the time (just as you did with CA) were to identify the carriers and remove them from the breeding pool. After that, there has been only one case reported in Finland in 1999 and the german bitch in 2005 (?), with both cases being perfectly identified, that is, both bitches have a name, and their pedigrees are known (thus the carrier dogs). With 2 affected dogs I don't think one would go very far ... There isn't any similarity with CA in America, even if 16 is also a ridiculous figure ... |
| Ridiculous, eh? I'll keep that in mind.
We have the DNA we have, for CA research purposes, in no small part thanks to a sub-section of breeders having the forsight to bank on future technology; those possibilities were evident even as far back as the 80s,and earlier for that matter. We've learned some important lessons from both cases, haven't we? Which makes the ongoing general DNA banking efforts all the more critical. Kristine |
Mad Dog wrote: We've learned some important lessons from both cases, haven't we?
Well, frankly, what I learned from the CA thing is that breeders are very keen in poiting the finger to other breeders and saving their own lines. I think that much more is to be learnt from this PCD case and from what Chris Beirendonck has done. Much the way the PWD breeders have always dealt with the problems in their breed. So, it's no coincidence that the PWD has 3 genetic tests available, Chris has allowed for the PCD test, and the CA test is still a mirage ... |
| What Chris accomplished is especially exceptional given the resistance and efforts to deter her. My hat is off to her. I've said that from the very start knowing full well what she would be facing.
It shows that with that kind of determination, coupled wth recent advances in the technology, and where genetics are concerned a smidgeon of luck doesn't hurt either, can accomplish. The breed owes her and those who opted to work with her a tremendous debt that goes well beyond PCD. You, on the other hand, seem determined to hold on to the ego and muck slinging of the past. Move on please. Most of us have. Kristine |
| Genetic Diseases are invisable and under no circumstances can any breeder be crutzified for starting such a disease. But on the other hand ignoring warning signs or dogs who become sick and trying to point the finger at someone else is also not the answer. The action Chris took was very brave and I for one look up to her for that, although I admit I thought she was crazy at the beginning, after speaking to her and reading up on these diseases I knew she was right in the action she took. Now a little over two years later and with the effort Chris has put into this and with the help of the University of Liege a test has been developed to test a blood sample and to diagnose if a dog is a carrier/ healthy/ or affected. Hopefully I will have more details regarding the tests and where to send the blood samples later this week, this info I will also post in this thread and also wish that breeders reading this info take the chance and have their dogs tested. |
Mad Dog wrote: You, on the other hand, seem determined to hold on to the ego and muck slinging of the past. Move on please. Most of us have.
Can you explain that, please? |
| I have a dog that has a cleft palate/harelip that may see shadows with her one eye... her littermate was born with a narrow trachea. I have another with hip dysplasia. I agree it's about what one does immediately after one even suspects there may be something wrong that matters most. I don't pretend to know much of anything about genetic testing so I'm wondering this...
Is it correct to say that if a dog tests healthy or clear of a genetic condition that this means he/she can't pass along the condition to their future offspring? |
6Girls wrote: I have a dog that has a cleft palate/harelip that may see shadows with her one eye... her littermate was born with a narrow trachea. I have another with hip dysplasia. I agree it's about what one does immediately after one even suspects there may be something wrong that matters most. I don't pretend to know much of anything about genetic testing so I'm wondering this...
Is it correct to say that if a dog tests healthy or clear of a genetic condition that this means he/she can't pass along the condition to their future offspring? With the disease PCD the results can be as follows: +/+ Means the dog is healthy and is not a carrier of the disease. MUT1/+ Means the dog is healthy but a carrier and 50% from the pups will also be carriers, should a dog with this result be mated with another dog with the same grade then 25% of the pups will be affected with the disease and 50% will be carriers the rest will be healthy MUT1/MUT1 means the dog is affected by the disease and will pass this on to the pups although if crossed with a healthy dog none of the pups will be affected similar is if crossed with a carrier MUT1/+ then 50% of the pups will be affected Hope you can understand the above. |
| I have come here today to reread this post in hopes for a response to.... Where would one get this PCD tests in the U.S.? Would one need to order this tests from outside the U.S.? I am bringing this back up because a beloved,young, OES has suffered from this disease. Not in the U.S., but none the less,as we know the gene pool is considered small. Thank you in advance for the response. Robin |
| Robin - the testing isn't done in the US, rather by a European lab, but that doesn't mean Americans can't get their dogs tested. Go to http://www.antagene.com/index.php?page_ ... ue=L2&menu You can order the test online. I contacted them by e-mail and I think I had them send the kits directly to my vet. It's a cheek swab, so much easier to ship than blood. In fact, when we had Mace and the dog I bred her to tested last year I sent the swabs USPS. I paid for the test with a credit card to avoid having to purchase a foreign check or money order (saved on transaction costs, which were fairly minimal) It came out to a little over $100 per test as I recall. Now, if memory serves (unlike the MDR1 test, for example), you do need a vet to do the cheek swab and sign off on the paperwork (would need to confirm that) My vet did it when I was in for something else, very nice of her, so it didn't cost me an office visit. Results came back very quickly - I requested electronic notification. It was pretty painless, really. I can't see that we have that info up on the OESCA website. Need to rectify that. Kristine |
| http://www.youtube.com/watch?v=5_yDYI-h ... _embedded#! A video worth watching....PCD explained & research. Thank you Kristine! Robin |
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