Eileen Stein

The Ask an Expert forum is for questions about working stockdogs, so I'm moving this thread to the General Border Collie Discussion forum.

Donald's passing is a loss to all of us. He cared so much for his dogs and for the working border collie breed, and always went the extra mile trying to do right by them. He was a unique, irreplaceable figure in the border collie world. Rest in peace, Donald -- you will be missed, and remembered.

There is no "incorrect, outdated and misleading info" on the thread about the thread's subject, "Which Heartworm Preventative is Safe for My Border Collie?" There are several dated statements noting that the MDR1 mutation has not been found in border collies as of the date specified. While those statements were correct when they were posted, the post has now been edited with an update that gives the current status.

I'm sorry, I've tried -- I've even re-read the whole thread -- but I just can't read that the way you're reading it. It's very clear to me that Mark was posing a hypothetical question about a theoretical dog who was an international supreme champion or a national champion -- a dog of undisputed superior working ability. He thought that would crystalize the point he was trying to make. (I have no idea what being European nursery champion even is.) You and Journey may have been thinking of this particular dog, but I assure you Mark was thinking about dogs carrying MDR1 in general, if only because ABCA and ABCA HEF would not legislate or regulate about one particular dog. The fact that taking action against one particular dog owner seemed to be what Journey was looking for was one reason it was hard to respond to her. When we make rules, we make rules of general application. The fact that you were thinking of one particular dog while we were thinking of how to deal with MDR1 in the breed probably also gives rise to Journey's repeated implications that we are not taking action because we are shielding or catering to one particular dog owner, which from our point of view is preposterous. The answer to your last question is that no, I did not know what dog was being talked about until you began describing a particular dog in your first post to this thread. I still don't know who owns the dog, although I assume Denise does know, since she is the director who is now trying to look into this particular situation. We do give information on the genetic defects that affect our breed. Look at the Genetic Mutations section of the HEF website, which I cited above. Mark Billadeau himself has personally been monitoring the MDR1 mutation for at least 12 years, periodically contacting researchers at UCDavis who have been tracking the incidence of the mutation. There has barely been a trace of an incidence in border collies found up until very recently, which is naturally what we reported. (Note: I passed over your comment about finding Mark "very condescending" earlier because one of the reasons it's against the rules on these Boards to insult posters personally is that it has a way of leading discussions off-topic, and I didn't want to go off-topic. But I have to say that Mark loves the breed no less than you do, and makes a tremendous contribution to the health of our dogs. He devotes a major part of his time to understanding and informing people about health considerations affecting our breed, using scientific knowledge that very few of us are fortunate enough to have. He links to research that he hopes will help people to understand more difficult concepts. I think you make a mistake in disparaging his contributions. I don't see how he can win. If he references studies using scientific terminology, you say you don't know a heterozygote from a billy goat and think he's condescending not to use terms you can understand; if he simplifies, you think he's condescending because he acts like you aren't smart enough to comprehend scientific language. It must be hard to give so much time and effort to advance the health of our breed, only to be personally disparaged.) We are not going to provide a list of dogs carrying the MDR1 mutation or their owners. ABCA provides the HVB list because the registry has solid, uncontestable information about how many pups breeders register, it is very difficult for puppy buyers to obtain this information, and we believe puppy buyers should have access to it in making their purchasing choices. We do not provide information about the health test status of individual dogs because we believe in the long run it would drive breeders/owners to refrain from testing and/or to conceal health problems in their dogs to avoid such publication, and we think it is better to encourage openness about testing and sharing test results. I don't think Journey or you have been abused, and I know you haven't been dismissed. We welcome health information from anyone. We are not running around with our hair on fire -- I don't think that's our role. But we are trying to monitor and address MDR1 in the soundest and best way we can.

Just to be clear, when Mark wrote "Do you want to ban the breeding of a national or international champion if it is mdr1m/n?" he was not referring to the particular dog you have spoken of (who is not a national or international champion). He was asking if a dog of undeniably superior working ability should be removed from the gene pool because he has a mutation that causes sensitivity to certain drugs. I think that's a fair question. I do see an inclination on the part of many people to get more upset about a problem you can test for, whatever it might be, than the overall level of working ability in the gene pool, which is more amorphous and harder to reduce to a number or a yes/no. I think it's a natural human tendency, but one we should resist. I wasn't being snarky or trying to suggest that you lack scientific qualifications when I asked what you'd recommend -- I genuinely wanted to know. Do you want more regulation of breeding on the part of the registry -- saying who owners/breeders can breed to and who they can't? That level of regulation, which is found in many countries, is not one that I think most people would find acceptable here in the US. Do you think the ABCA should expel members for breeding dogs with certain mutations, and if so, what mutations would those be? Do you think the ABCA should require genetic tests for registration, and deny registration to dogs who test positive for certain mutations? There are a number of reasons that we don't do that, and I think they're good reasons. Now it is sounding more as if you favor an educational approach, and with that I agree. We have tried to do that with the ABCA Code of Ethics and Best Practices and in the Genetic Diseases section on the HEF website. The MDR1 (ABCB1) entry there is not perfect, and we are trying to investigate further and expect that it will be improved over time. We have also discussed developing a separate article for the Health and Genetics section that would discuss inheritance patterns that are less widely known than simple dominant and recessive, which we could link to from the MDR1 entry. I expect we will probably do this when time permits. I doubt we will have a page where you could go to record any issues you are having with a pup, but others have done that with regard to other heritable diseases. I think that discussions with friends and acquaintances about the problem as you've encountered it, and recommending against buying a dog from an MDR1 carrier is a legitimate and effective way to advance your point of view. I think that kind of "consumer pressure" has resulted in a greater acceptance of genetic testing than existed when I first got into this -- it has probably had at least as much effect in changing attitudes as the continuing and significant efforts of the ABCA.

You were not one of the persons I was referring to that Denise has contacted. I don't know who Eileen is, but I'm pretty sure she too is not one of the persons Denise has tried to contact. I believe Little Bo Boop is one, however. The information you mention re test results in the UK is third-hand to me, but if it is correct, those UK breeders can surely pass it on to the ISDS with more credibility than ABCA -- which has never seen these test results -- could do.

I'm sorry you have come to this conclusion, because it is an erroneous one. You are making quite a good case that these pups are unlikely to be bred and pass on whatever genes they might have. In fact, I question why anyone would be bringing bitches to this sire. We are not doing anything to defend a champion sheepdog, mythical or otherwise. We are still considering this whole issue in hopes of getting enough information to come up with the best solution. I know that Denise Wall has reached out to some people to learn more about the case, but has so far not received any response. We have no solid information about this particular dog -- only gossip so far. But since you feel you have enough information to decide what should be done here, what is your recommendation?

The problem is that this is not the only genetic defect or disease that can occur in the breed. All dogs -- even all of us humans -- have defective mutations in our genes. Usually you will never find out about it, because if the mode of inheritance is recessive (which it is in most cases), that gene will not meet up with a matching gene to create defective offspring. The more diverse your gene pool and the less you inbreed, the less likely it is that they will meet up. If the mode of inheritance is dominant, you will always find out about it, because the offspring will always display the defect so you won't want to repeat the breeding because you won't want to produce defective offspring. If you try to eliminate all of these defective genes once they do pop up, you definitely WILL harm the gene pool -- not just because you'll lose sources of valuable working genes, but because you'll eliminate the sources of other healthy genes. It is vital for the health of any breed to preserve genetic diversity. In a totally different context, it's kinda like "They came for the CEA mutation carriers and I thought that was a good idea. Then they came for the IGS mutation carriers and I thought that was a good idea. Then they came for the MDR1 mutation carriers, and I thought that was a good idea. . . . Then when XYZ was discovered, we didn't have enough healthy dogs with diverse genetics left to keep the breed going." So how do we deal with that problem? We have to prioritize. How prevalent is this particular mutation in the breed? How serious is the disease it produces? Are there any better ways to combat it than to eliminate all carriers from the gene pool? In the case of MDR-1, we don't know how prevalent the mutation is, but all indications are that it is very infrequent in the breed. That fact could make it possible at least in theory to eliminate it, but we would be removing valuable genes from the gene pool as well. We do know that the defect it creates is one that will rarely cause harm -- only when certain drugs are administered to homozygote (and in some cases, heterozygote) dogs. Would it make more sense to test all dogs before breeding and not breed carriers, or would it make more sense to test dogs before administering those drugs, and find an alternative to administer to those few who carry the MDR1 mutation? Population geneticists would probably advise the latter approach.

The study I was thinking of that found higher rates of deafness in dogs with white faces/ears can be found here: https://www.bordercolliesociety.com/wp-content/uploads/2017/01/bcdeafness.pdf. There was no attention given in that study to whether normal colored dogs from litters containing some white head/ear pups might have higher rates of deafness. Also not addressed, unfortunately, was the question of predominant white: "Coat color was recorded as one of the following possibilities: black and white; black, white, and tan; red and white; red, white, and tan; blue and white; blue, white, and tan; blue merle; red merle; predominantly white; and any other color. For the purposes of analysis, coat color was classified according to the dominant color: black, blue, red, or merle. Dogs who had white as the dominant color were allocated to the color group of their existing pigmented areas." perhaps because of the authors' belief that "all Border Collies are homozygous for the Sw and Sp alleles so that the S locus [i.e., the white-factor locus] is not thought to be involved in the regulation of deafness in Border Collies." Of course, this study is 12 years old now, so the one you're thinking of might be more recent.

That's kinda up to the breeder. Your argument that putting the responsibility of testing on the buyer is unfair makes sense, and your approach makes sense too. But BAER testing is pretty specialized and expensive, and the frequency of congenital deafness in border collies is not that high.* When it comes right down to it, this is a commercial transaction. If the breeder doesn't think a BAER test is essential, s/he can either say to buyers that they can do it at their expense, or s/he can hope that there will be enough buyers who agree that the test is not essential to buy the pups without a test. There are a whole lotta tests that can be done on puppies, and more are coming along all the time as DNA research progresses -- so many that it is not practical or sensible to do them all. It comes down to risk analysis. Most people make their decision -- and the ABCA makes its recommendations -- based on the prevalence of the disease or the disorder in the border collie breed. Beyond that, if the disease or disorder is known to be present in the breeding line, then it makes more sense to test for it than if it's not. *I should say that although there is no research showing that deafness is more prevalent in border collies who are white-factored, there is one study suggesting that it is higher in border collies with white faces/ears. Don't know if these pups have white faces/ears, but I would be more concerned about deafness if they did than if they didn't.

No informal test is as good as a BAER test in detecting unilateral deafness, that's for sure, so the more critical it is for you that the dog is able to hear from both ears, the more reason there is to opt for a BAER test. I don't like the snapping fingers deal because it seems to me you might get a reaction from just the disturbance of the air next to the ear. One thing you can try is having someone make a small, interesting noise several feet or more away from the pup on one side and then on the other side, and observe how the pup reacts. Does it appear to hear the sound? Does it turn its head toward the sound, or does it seem to have trouble determining where the sound is coming from? Does it locate the sound as readily from both sides, or does it have more trouble locating it from one side than the other? Bear in mind that the people (or pups) making the sound must be stationary -- if they' or you are moving around the pup will likely turn toward the moving person/pup. This test works best if the pup is in a drowsy phase rather than an active phase. But tests like this are makeshift compared to the BAER, and if I felt I absolutely needed a dog that had hearing in both ears I would BAER test the pup or keep looking.

Good decision, IMO. I would not consider buying from a breeder who had that policy. Just FYI, any deafness that may be associated with extreme white factor (higher risk of deafness has been found in other breeds, not definitively in border collies) will be detectable by the time the dog is 8-10 weeks old. Since you're concerned about this, you might want to give a BAER test or less formal hearing test if you decide you are interested in one of these pups. Be aware that a pup may be deaf in one ear only -- harder to detect without a BAER test but at the same time not likely to be a big problem in a companion dog.

Just to be clear: There has been a research breakthrough, but work on developing a DNA test for EAOD is still ongoing. It has not been completed yet. The target date for completion and commercial availability is January of this coming year. When it is available to the public, it will be announced. For more information, see this thread.

Many people contributed to this success, certainly including my fellow directors of ABCA HEF (Mark Billadeau, Denise Wall, Bob Wagner, Mike Neary and Warren Mick), but I would like to give a special shout-out to Amy Coapman, who managed BAER/DNA clinics at Meeker last year and at the Sheepdog Finals this year in addition to the extensive work she has done over the past decade to support EAOD research, and to Carolyn West, who set up and managed a BAER/DNA clinic at Fetch Gate Farm SDT in upstate NY last year. They deserve a big thank you for their dedication to finding the answers to this threat to our breed.

Genoscoper Laboratories (genoscoper.com; mydogdna.com) is the one the researchers are currently working with. Besides offering testing to the public, it is known for facilitating research. As noted above, other companies will probably also develop their own tests after the data is published.

The ABCA Health & Education Foundation has received a progress report from Dr. Hannes Lohi's team studying Early Adult Onset Deafness (EAOD), which says that they have essentially identified the causal gene and its likely causative variant. They need to complete some additional experiments to validate their conclusions prior to a peer-reviewed publication, but they hope to be able to submit their work for publication by the end of the year, That doesn't mean that the work will be published by then -- the peer review process can sometimes be lengthy -- but submission for publication is very important. It not only provides for evaluation of their work by other researchers, but also, once their results are published, it will be possible for any testing laboratory to develop and offer DNA tests for EAOD based on their research. Both the researchers and ABCA HEF agreed at the start that publication was essential for the advancement of research and to permit competition to keep prices down. In the meantime, based on the results they've achieved, the research team has begun the process of developing a gene test in collaboration with a large, well-regarded testing company. The intent is to ensure that a test is available for diagnostic purposes and breeding decisions as soon as possible. The best current estimate for availability of the test is January 2019. If the test becomes commercially available from this company before other companies have been able to bring a test to market, there is a side benefit for us -- we will be able to get data that will best show the prevalence of EAOD in our dogs. Right now, a certain percentage of our dogs carries the EAOD mutation, but we have no way of knowing what that percentage is. It's the portion of the dogs who show up as Affected, Carrier or Normal when the test first becomes available that will give us this information. Later on, after the test has been on the market for awhile, these figures will gradually become less and less informative about the prevalence of the EAOD mutation, because more people will tend to test only suspect dogs, so the data will be skewed. Early on is when the sample of dogs being tested will be the most random, and will give us the best estimate of the true percentage of Carriers and Affecteds in our breed right now. That knowledge is very important in developing recommendations for breeding. Dr. Lohi and his colleagues intend to continue and broaden their study to better understand this complex disease. Additional clinical studies will help in understanding its dimensions, including variations in age of onset and manifestations. For example, it is not yet certain that EAOD is 100% penetrant. There may be cases where dogs who carry two copies of the causative mutation may not become deaf. (This is similar to CEA. CEA has an autosomal recessive mode of inheritance, yet there are cases (often called "go normals") where a dog who carries two copies of the causative mutation, and therefore will pass that mutation on to its offspring, does not show symptoms of the disease. It's not yet known whether the same may be true of EAOD, and if so, how frequently this occurs.) Dr. Lohi and his colleagues ended their report by thanking the ABCA Foundation for our "very helpful" and "much appreciated" support for this research. We in turn thank them for their hard work and the good results they have been able to achieve.

I'm moving this topic to General Border Collie Discussion.

You're right, Smalahundur. I will look into whether we can do that. JBell, welcome to the Boards. I am moving your post to the General Border Collie Discussion forum.

After reading the BCSA minutes Journey posted, my guess is that what happened here is this. The person referred to as "Jim Nicholson" in the minutes is probably Dr. James Mickelson, a researcher at U Minn who is collaborating with Dr. Hannes Lohi on the HEF-supported hearing study. The researchers have been making excellent progress on this project, and I suspect Jim might have made reference to this when discussing a different research topic with the BCSA, which got inflated in transit into "a test for deafness is about to be announced." The Board of ABCA HEF is conferring closely with the researchers right now in hopes of being able to present to the ABCA members at the September annual meeting as full and correct a description as possible of the status of the research and the testing it is aimed at. We will be sharing whatever information we are free to share with all interested people at that time, as well as with the ABCA membership.

Sadly, we ARE still having trouble. There are memory resource issues that our website host and the software manufacturers are working together (read: arguing and pointing fingers) to try to overcome. That is what's behind the problems you report, D'Elle, and I thank you (and everybody) for your patience and good wishes. We hope to have this all worked out soon. --Eileen

Well, it is not as simple as I made it sound. Turns out that the new software is incompatible with the skins we are using now. ("Skins" are the design elements -- such as the blue-purple color, the dog picture in the banner, etc. -- that make the Boards look unique rather than generic. Sometime today they will revert to looking generic, the way they did before we did the last re-design. Hopefully it won't take long before we can have the skins restored, but in the meantime it will be functional but not look pretty. Again, thanks for your patience. --Eileen

Hi Everybody, Once again we reached a point where our Boards software was out of date and no longer being supported. We had to do an upgrade, which was supposed to be seamless but as usual was not seamless. I apologize to everyone who tried to log onto the Boards the last couple of days and were unable to do so. The new software is in place now and theoretically there should be no future problems, but we all know how that goes, so please post here to let me know if you do run into problems. There are two significant changes that we had to make. 1) The software no longer has separate entries for username and display name, so we had to pick one or the other to serve for both. We chose display name, on the theory that it is the one most people know. A lot of the people who email me saying they can't get on the Boards are being tripped up because they forget that their username is different from their display name, and they don't remember their username. This will eliminate that problem at least. 2) There is no longer a "friends" feature, instead there is a "followers" feature. We had the choice of making all friends into followers, or dropping the "friends" function altogether. We chose to drop "friends," because on reviewing the way that "followers" would operate, it appeared that it would make formerly confidential information accessible to other people, without warning. Again, if you have any comments, questions or complaints, please post them in this thread or contact me privately. Thank you all for your patience. --Eileen

That was fascinating, thanks for posting. I once knew a dog who got contact lenses after it became clear she was very nearsighted, but that was a hassle to implement. This dog looks very comfortable as a glasses wearer.

The scientists on the Board did not want to use the term "incomplete dominant," because they don't consider that terminology to be totally accurate, both for the reasons expressed in the video Mark linked to, and others that are more complicated (but I'm happy to try to explain them if you want). We thought the education mission would be better served by explaining the effect of the heterozygous and homozygous forms of MDR1rather than using a problematic term. You seem to think that HEF is fiddling while the breed burns, and I'm sorry for that, but there are many considerations involved in arriving at a breeding recommendation (and not all of the diseases we list have a breeding recommendation). First of all, these dogs are not unhealthy. They have a genetic flaw, as all of us do, but the vast majority of them will live out their lives without any ill effects from this genetic flaw. I think any recommendation we might arrive at has to take this fact into account -- the approach of trying to totally eliminate a gene mutation from the breed is impractical and carries its own risks. Many other facts have to be weighed in also, including prevalence, which is not easy to determine, and which can change over time, although it's not going to jump from its current level to 70% of the breed during the time we are deliberating. The fact that a national champion carries the mutation is something that must be taken into account, but only because that dog will likely be bred from more than other dogs, which will have some bearing on prevalence. I think you're probably right that this discussion is not going to result in the immediate satisfaction of your concerns, but be assured we are taking those concerns into account, and will try to deal with them in the best way possible.

Journey, I'm not sure I understood your last post correctly. First off, you've apparently read the MDR1 material on the HEF website. Can you please tell me if there is anything there that you believe to be incorrect? Or is your issue only that it contains no breeding recommendation? Second, you seem to be suggesting here that HEF is misrepresenting or suppressing something about MDR1 due to "who it involves." Am I reading you right? If so, would you please be more specific about your allegation? Who is it that you believe HEF is trying to favor, appease, help, or whatever by what we are doing or failing to do? Why would we want to favor, appease, help, etc. this person? Third, I think you have misunderstood Mark's posts about ivermectin. I did not read them as saying ivermectin is horrible.