Sophie Liu, DVM: The Doberman Diversity Project

Jessica Hekman: Hey friends. This week I talked to my friend Dr. Sophie Lu. Sophie is the founder of the Doberman Diversity Project. The DDP seeks to collect information in a single place about dobermans for use by researchers who want to better understand the genetics of doberman health issues. Sophie has some very cool specific, actionable plans for helping improve the breed’s health. And in this episode, we talk about those plans, why dobermans are great, what their health is like currently, and how hard it is to organize dog owners to get you the data you need. It is a very cool project, so I hope you listen and help spread the word.

Sophie, thank you so much for being on the podcast with me today. I’m super glad to have you here.

Sophie Liu: I’m super excited. Thank you.

JH: So I like to start out by asking people the very hardest question, which is, who are the dogs that you live with? And where did you get them? What do you do with them? Just fill us in.

SL: I love this question. I listen to Melissa Breau ask this question of everyone. And I’m like, “Oh man. What would I say?” (laughter)

JH: Oh, man. You let everyone know that I stole it from her! But I added in, “Where did you get them from?” So I think, “Where did you get them from?” is the added element to this one. (laughter)

SL: Oh, true. Very true. Okay, so I have two dogs. One is Ipa. And she is my doberman that I got from a breeder with the intention of doing working sports. So, bitework, IGP, IPO, Schutzhund, whatever name you want to call it these days. She is three years old now. She’s called my Ph.D. dog. That’s what my friend calls her. (laughter) 

My other dog is kind of a foster fail who we fostered from a rescue (and her name is Alice) primarily for the reason of companionship for our dog Ipa. And it turned out she was a really great, solid dog who has a lot of sports potential. So we failed and adopted her when we realized that every other home sucked besides ours for her. And she’s about a year and a half, and she is actually a Formosan mountain dog from Taiwan. So I know there’s some controversy about that, but she’s turned out to be really stable. So you know, I have mixed feelings about it now.

JH: Well, you never know where the stable ones are going to come from. 

SL: That’s true. 

JH: That’s part of the problem, right? 

SL: That’s true. 

JH: If we knew we would all be living with wonderful, stable, resilient dogs.

SL: Yeah. 

JH: It’s a crapshoot no matter where you go.

SL: So yeah, exactly. And so we kind of found a hidden gem and we decided she deserved a really great home. Yeah.

JH: Well, I’m glad for both of you. You got super lucky. So that’s awesome. And you’re a veterinarian. So what are you doing for work right now?

SL: I’m in my behavior residency, so right now I’m doing half GP/half of my behavior specialization program. So that’s what I’m doing right now.

3:53

JH:  And we’re basically here, of course, to talk about your project, the doberman Diversity Project. So did… Sorry. Is it Ipa? Or its “Aipa?” 

SL: Ipa. Yeah, Ipa, like, “A girl from Ipanema.” Yeah.

JH: Ipa. So was she the source for you starting that project? Or did you start it for other reasons? Or, why did you start that project?

SL: Oh, yeah. So, it started when I was in vet school. And my then heart dog Ivy, she was a doberman mix, was getting older, and I wanted my next dog. And the great thing about vet school is you have direct access to all the literature, like every database, all the evidence you want. And I looked into the health of dobermans, and my jaw dropped. It was so disappointing. You know, for the last 20 years they’ve known that dobermans’ DCM prevalence is 40 to 60%-ish. And so I realized that if I got another doberman I might as well be flipping a coin, and that dog might die of DCM. So when I realized that in vet school, I lost a lot of confidence in my ability to get another purebred doberman and have confidence that I could train it and love it and expect it to live a long, healthy life. 

And I wondered, you know, was anyone doing a broad scale project? And the answer at that time was no. So I paired up with Robin Loreth who also had gone through, I think, four dobermans. And I can’t remember which of her dogs died of DCM and which had cancer, but they all died young. And she was also very dismayed. She, like I, wanted to do more than was currently being done. And that’s how we came up with the doberman Diversity Project. At the time my genetics professor was Adam Boyko, and at the time Embark had not yet been made. So we saw this opportunity and we took it.

6:03

JH:  I didn’t realize you had started it pre-Embark. That’s pretty cool, actually. 

SL: Yeah. (laughter) We were there from the beginning. 

JH:  Yeah, you were!  So we should definitely talk about what DCM is. But maybe before we do that, why don’t you tell us why you like dobermans. What’s good about them?

SL: Well, I think they’re beautiful. And I know that a huge piece of this is their aesthetic, so I do think that they’re a gorgeous dog. I think they’re very clear in their intelligence. Like when you work with them, in my experience, it’s not so crazy over the top, “I’ll work for anyone with any food and any ball.” It’s more like a clear thoughtfulness to them that I really like.

And mine currently isn’t loyal at all. (laughter) But I know that is a trait that people like and certainly with Ivy it was very, very, very clear. I mean, she would do anything for me. One time she got out while we were moving. And my housemates were moving in and I was at the grocery store. And she just burst out and was looking for me. And I didn’t realize until I came out of the grocery store, and my dog was on the streets roaming around looking for me. So it’s that type of personality that I think really draws people to dobermans. Mine isn’t like that right now, but maybe the next one.

JH: Yeah, I would say that’s a description of a really tight bond, which sounds really lovely.

SL: Yeah, yeah, exactly. 

JH: That’s nice. And then the downside of them, of course, is the DCM. So you want to tell us a little bit? Maybe not everyone knows what DCM stands for.

7:53

SL: Sure. DCM is dilated cardiomyopathy. And I am not a cardiologist, so I’m not the best one to explain it. But from my understanding there’s remodeling of the heart muscle, the heart wall muscle. And what happens is that every time the heart pumps, it’s supposed to be like a sponge and just squeegee all the blood out and then return back to normal state and then squeegee everything out again. With dilated cardiomyopathy the heart muscle wall weakens. And so when it squeegees out and then relaxes, it actually enlarges and enlarges, and then it becomes less and less effective at squeegeeing out that blood forward. 

Because the heart does not have the capacity, basically, to provide blood to the tissues when it needs it, dogs often look normal up to a certain point. And then when they are doing strenuous exercise, they will drop dead. And so there can be either fatal arrhythmias or congestive heart failure. And both essentially cause the dog either to drop dead, or they can develop fluid in their lungs and have a lot of coughing and inability to perfuse their tissues. And so in both forms, it’s a pretty aggressive and quick way to die. So the horrible nature of DCM is that it tends to attack them quite early in their life and it’s pretty rapid in it’s disease progression. 

And it’s quite awful to see in real life, you know. I saw a club member’s dog die while playing ball and we had no idea what was happening. He just fell. And it was traumatic to realize that, “Oh no. He was dying.” And by the time that we had gone over to help her he was dead. And you know, once you see that you can’t unsee it, and it makes a lot of sense why a lot of doberman owners, if they have gone through that, are disappointed and anxious for their next dogs.

10:05

JH: Yeah, that’s got to be terrifying. I can’t even imagine what it’d be like to have a dog and have that fear hanging over me that there’s about a 50/50 chance that my dog could either keel over dead in front of me or go into congestive heart failure, which is not fun to manage, and dogs don’t live a whole long time with it. So that’s not a not a fantastic outcome either. Although, certainly less traumatic than watching your dog just collapse and die. 

SL: Right, yeah, exactly. 

JH: Yeah, so DCM is the big disease that we think of in relation to dobermans. But there’s some other stuff going on with them as well. So you mentioned cancer.

SL: Yeah, right. So I don’t think that there are solid statistics on the numbers of cancers that dobermans get or the percentage or prevalence of it in the breed. Anecdotally, I know that people talk a lot about lymphoma, and other cancers. Usually rare tumors. Osteosarcoma. They are a large breed dog. I’m not the person to ask about that. I know there’s a lot of interesting research about that.

So you will often hear from people that if it wasn’t DCM, then cancer is the cause of death. And that usually hits them at not a very late age. So again, we’re dealing with issues of longevity in both cases. And that doesn’t even take into account diseases that cause morbidity, and not necessarily mortality. And those would be like wobblers, copper hepatitis, bloat… Which can be fatal, but can be intervened in a lot of cases. And so when you add all of those things together, it’s a lot of diseases that are impacting one breed.

12:03

JH: Do we actually know what the average longevity is for this breed?

SL: So there was a group in the UK who took a large pedigree of collated user input data. So they actually made estimates for heritability, I believe, as well as getting average longevity. And they got about seven to eight years.

JH: That’s terrifying. 

SL: Yeah. 

JH: And so they found that some of these diseases are heritable, which in the lab where I work (where we work on canine genetics) we basically say that if you see something happening more in one breed than in another breed, then there is definitely some genetic component to it. But maybe you could talk a little bit about the state of genetic testing for some of this stuff. So, if you wanted to genetically test a dog to see if it had an elevated risk of DCM, or you know, is it going to get DCM and die? Like, are there tests for that?

SL:  Yeah, so what I tell people is there’s no way to quantify DCM risk for dobermans right now. And what it means is that there are two genetic mutations that have been identified as likely having a modifying effect on the risk of DCM. But they don’t explain the full picture at all. So there are plenty of dogs… Also in the original study you’ll see there’re plenty of dogs with the mutations who are normal, and who reached old age and will not die of DCM. And so they are part of the picture, but definitely not the full picture. It’s definitely a complex polygenetic disease. 

JH: My favorite kind.

13:58

SL: Yeah, there you go. And so it’s a conundrum because we know that it’s complicated. We know a little bit of the story, but a lot of people feel that it’s too premature to use those two pieces of the story to guide any explicit breeding decisions. And I understand that. I don’t necessarily disagree. So then the question is, what do we do?

JH: Yeah, and so some people try to look for lines of dobermans that are free of these diseases, right? And I worked with a doberman breeder recently who was trying to breed her really lovely, and from what we can tell, very healthy doberman bitch. And she was trying to find a stud dog who came from lines that didn’t have these diseases. You know, or that if you saw it it would be sort of a ways back, right? But that’s hard to do. 

SL:  Yeah, yeah. So what we are bumping up against and what we’ve discovered in the project is that, after testing over 2,000 dogs from across the world, they are highly inbred individuals and they’re very similar to each other. So what ends up happening is that the most dissimilar dogs in this breed are as related as full siblings of unrelated parents, meaning that if me and my brother had a baby, our baby has the level of inbreeding of the most dissimilar dobermans. And so even if you are stacking the cards in your favor, and I think you’ll have guests on here who will do a much better job of explaining inbreeding than I ever can (laughter), but it dramatically increases your risk of expressing those disease associated mutations, right?

And so you can do a much better job explaining that than I can. But what we’re bumping up against is that there’s going to be an increased risk of expression of deleterious mutations. And we have a lot that are causing DCM that we don’t know yet. And so that’s kind of what we’re bumping up against in this breed and what we’ve discovered right now.

JH: Yeah, and I want to also call out that point, just to emphasize this. I think most of us are really horrified by the idea of a brother and sister mating, with good reason. And I just want to point out that what you just said was that the least inbred dogs that you can find look like they’re a product of that. But in fact, the average, so what Embark is seeing, is that the average coefficient of inbreeding for this breed is around 40-43%. And a brother/sister mating from unrelated parents is 25%. So 43% is way higher than 25%. So we’re not even talking about dogs who all look like they came from brother/sister matings. We’re talking about dogs who are coming from a series of inbreeding over many generations to get that high.

17:16

SL: Yeah, exactly. It’s nothing that anybody of this living generation has done. It is historic. And so we have to understand that the historic generations and generations of inbreeding have led to this and this is our current situation. So what can we do with the current prevalence of fatal diseases, of diseases that have high morbidity also, and the constraints that we have? So what can we do now?

JH: Yes, so tell us what you are doing.

SL: Yeah. (laughter) So my favorite topic: estimated breeding values. So the concept is that even if you don’t know, genetically, exactly what is causing a trait, we can select for or against it using phenotypes. So which dog displays exactly what you’re looking for? What is your trait of interest? And how are they related to each other? That’s all you need to know. 

So it’s taking the art of pedigrees and of breeder wisdom and using statistics and modeling to make it give you a quantifiable sort of risk assessment. And if we had that for DCM, we could make really positive genuine efforts to select away from that. And we may find that we are limited. And if we do bump up against that, well, then at least we have that information and we can make with that what we will, right? But we need to have something where you can quantify that risk, and we don’t have it right now. Right now what we have is two modifier genes. But they clearly don’t explain the whole picture. And the knowledge that we are bumping up against a baseline level of inbreeding that makes things difficult.

JH: Yeah, and people making decisions to not breed dogs who have the risk alleles and the modifier genes are just decreasing the genetic diversity even further as well by taking more dogs out of the population. So that’s pretty scary too.

I had Jane Russenberger of Guiding Eyes for the Blind on the podcast, by the time this airs. So as we’re recording this it hasn’t aired yet, but she was ahead of you in the queue. So I just want to say that for anyone who’s listening to Sophie talk about estimated breeding values, or EBVs, who’s like, “Oh, that’s super cool,” they should go back and listen to Jane’s episode, too. Because they are the way forward, I really believe.

19:53

SL: It is super cool. It is super cool. You know, everyone always asks how we quantify the risk for DCM and right now we can’t. But, if we had an estimated breeding value, I can give you a pretty solid number to chase. And, you know, you will see the limitations of what you can improve or not, but at least you have a way of seeing it in front of you. And having a certain level of confidence. You know, for our listeners, if they are doberman people, let’s say we need 500 dogs with DCM.  We already have 2000 plus dogs genotyped. We just need 500 dogs with a phenotype also, meaning they need to be of a certain age and they need to have their holters and echoes. And if we have that we can make an estimated breeding value for people to select against that to the best of their abilities within our population. And that is a functional tool that could change things dramatically.

JH: So what would that look like? So I would have a doberman who I bought from a breeder so that I knew this doberman’s pedigree. And so I would come join the Doberman Diversity Project and say, “Here’s my doberman’s pedigree. And I want to figure out how to find an appropriate mate so that we will be decreasing the risk of DCM in future generations.” So what would you give me to help me do that if you had these EBVs?

SL: Yeah, so pedigree is very useful, but clearly it does not capture half the genetic picture. So when you genetically test them with our partner, which is Embark, then what we can do is we can see their genetic relatedness, which is far more useful and accurate, and see the nodes that they are connected to that have been diagnosed with DCM or not. And that helps… I’m going to totally butcher the explanation of EBV so you just you just interrupt me whenever I’m off the charts.

JH: We can refer people back to Jane for sure. (laughter)

21:59

JH: Yeah, so let me just interject that there’s a little bit of awkwardness because Sophie and I… (I am speaking just directly to the listeners now) Sophie and I have been talking about this a lot and working together on this. And so we’re trying to talk now as if we don’t know what the other is doing. (laughter) But there’s two kinds of EBVs, right? There’s the ones where you just have the pedigree, and that’s super useful. And then there’s the ones where you have the genetic assay as well. And if you have the genetic assay, you can hopefully get some stuff done even without the pedigree. So what you’re saying that you’re working on, and what I happen to know that you’re working on, is the genetic version of this.

SL: Right, exactly. And I think that is probably going to prove to be far more useful in breeds where the pedigree just does not align with the level of genetic relatedness. So where there’s been a lot of historic inbreeding and the pedigree dramatically underestimates the relationships, I think that genetic based EBV is going to be the way to go. And that… You know, that’s just one piece of our project.

So the other piece of our project is that we can do all of this to make functional tools for people, and also provide the data for researchers to mine, and perform their GWASs and see what additional alleles, genetic variations, can we find associated with DCM, or copper hepatopathy, or lymphoma, or whatever. But you are obviously the expert on GWASs. So I’m not going to try to put you through that either.

23:45

JH: Yeah, so maybe a quick overview on GWAS, or genome-wide association study, which is basically when you take a whole lot of dogs, and you know that some of them have the trait, and some of them don’t. So some of them have DCM and some of them have lived to a ripe, old age without getting it. And then you look for locations in the genome (you use a computer to do this obviously) to say, “Okay. All the dogs that develop DCM look similar at this point, and all the ones that don’t look the other way, at that point.”

And this is exactly how Dr. Kathryn Meurs got the existing loci that we are interested in that say, “Okay, at these two points, we know that there’s some elevated risk for DCM if the dogs look particularly like this.” The problem with doing this for DCM is that there’s going to be lots and lots and lots of little points that contribute to the risk. So it’s nice for us researchers to have that information, because as you say, then we can start figuring out, “Oh, well, if this gene is involved, then it, you know, it seems to have to do with the structure of the heart, or if that gene is involved tnen we know it has to do with this part of the cell.”

But it’s not as useful for making a genetic test. So what you’re talking about is being able to basically hand all that information… Doing the same sort of genetic assay, but handing that information to a computer to say, basically, you know, “Make a sort of risk prediction for this particular dog about how…”

SL:  Right, yeah. And that’s what breeders want, right? I think it’s worth discussing that doberman breeders and owners have been really phenomenal with testing. I mean, they take all of the testing. They do it 1000 times over. They annually holter and echo their dogs, which is like $500-$600 a year. Doberman people are really fantastic when it comes to testing. But they’re tired of it when it’s not giving them what they want and need, which is a risk assessment. And we don’t have that right now. But an EBV can provide that. And even if the answer isn’t exactly what we want, at least it’s a tool where you go, “You know what? This is it. And this could explain if there are limitations, why we still have such high prevalence, but this is it. This is the risk assessment that we have based on the most advanced understandings available.”

26:17

JH: Yeah, it’s the obvious next step. So right now all someone could do would be to get their dog tested for the two genes that we know about, two alleles that we know about. And then, as you said, it’s not a whole lot of information. So you can sort of decide, “Do I want to remove this dog from the breeding pool? But if we don’t know that it’s that much risk and, you know, the genetic diversity is bad… Or do I want to keep the dog in, and I’m not sure if there’s elevated risk of DCM, so that’s kind of scary…” So, in the happy future where we have estimated breeding values, genomic estimated breeding values for dobermans for DCM. So theoretically, what would I do? I would sign up for the Doberman Diversity Project with my doberman, and then what would the next steps be?

SL: So you sign up with us. You get the dog genetically tested. Either you directly send the raw data to us, or we can pull it, and you have to send us phenotype data. Which means you have to tell us about their holters and echoes, i they get cancer, if they die of something else, if they get copper hepatopathy, whatever. We need to know all of the health data that is relevant and that can be used for future research. Because a lot of people have this misunderstanding that if they genetically test, “Oh, it’s great.” But that’s as useful for us as you telling me that your dog died of DCM, but you didn’t genetically test it with us. We can’t do anything with one piece. We have to have both. And so a lot of people are doing that right now. They’re just genetically testing but they’re not updating us on holter, echo, liver values, thyroid values. Did your dog die?  Did your dog live to 10? Great, tell us! We need to know. And without that information, we can’t use their dog.

JH: Yeah, that is the hardest part of a project like this, for sure, is keeping people engaged and giving you back this difficult information. So maybe we can pick that apart a bit, because I think that’s really the heart of it for you. 

SL: Yeah. 

JH: So first of all, we talk about having to get the phenotype, meaning, did the dog ever get diagnosed with DCM? Let’s just focus on DCM for now. We’ll talk about the other stuff later.  

SL: Yeah. 

JH: So you talk about echoes and holters, so what are those?

28:36

SL: Echocardiogram is an ultrasound of the heart. People often do this annually, just to see how the heart is working, as a screen. And that’s a really good idea. We strongly recommend that for any doberman over two years old. A holter monitor is an EKG so it’s recording the electrical activity of the heart. And this is important because there seem to be two forms of DCM. One which is arrhythmias alone predominating and the other is the severe dilation. And so you have to do both the echocardiogram and the holter to accurately capture both forms, in case your dog has developed… 

JH: Yeah, and they’re not super easy to do, right? So, generally you have to go to a cardiologist. 

SL: You have to go to a cardiologist for the echo. You also have to do 24 hours of a holter for it to be accurate. And so yeah, there’s quite a bit of time commitment. You need to get that holter onto your dog and have it be on for 24 hours. You have to go to the cardiologist, which may be a drive for some people. But that is the best screening that you can do. And that’s the screening that we need to make studies robust.

JH: Yeah, and a financial commitment, too, because veterinary specialists are not cheap. And that’s the funny thing for me as a researcher. In one sense the doberman DCM seems like an easy problem to… Maybe not to solve, but like a good one to attack because it’s a pretty clear phenotype and there’s a really committed community behind it. But actually getting that phenotype… Like I work in behavior and we just ask people to answer survey questions. (laughter) And the problem with that is you don’t know whether you can trust it or not. And so for you, at least, if you get this information, you can trust it a bit more. But it’s expensive and difficult to get people to do it. 

So then you have someone who signs up, and they’re super committed, and they get you that phenotype information, and then what the next thing that they have to do is also have the dog genetically tested. So maybe you can talk a little bit about what that looks like.

30:44

SL: Yeah, yeah. So getting them genetically tested is easy. We are partnered with Embark right now, which means that you get the Embark kit. And it’s a cheek swab, so you swab your dog’s cheek cells, get a little bit of saliva in there for about 30 seconds, you put it back in the mail, you ship it, and you get the results returned to you. And your dog’s information can be incorporated into our database. So that part’s easy. And a lot cheaper.

JH: Yeah, and as you said earlier, Embark gives you the information, and then you basically have to download it and send it to the Doberman Diversity Project. But then they have the actual raw data.

SL: Right, or you once you sign our consent form, then we can use your email to pull your data from Embark. 

JH: Oh, cool. I didn’t know that. That’s much easier.

SL: It is much easier. That’s what we are turning into.

JH: Yeah, that’s very nice. So now you have a super dedicated owner who has had their dog genetically tested, they’ve gotten you the information, and they’ve done the holter monitor and the dog is three years old. And so now what else do you need from them? (laughter)

SL: Yeah. So what I’m telling people is, for studies that are trying to understand DCM, the young dogs are very interesting to follow, and we should definitely follow them. But if we had to be efficacious about our efforts, I think it would be most efficient to go for the older dogs. So to really encourage anyone with a dog five years and older to holter and echo, send us that information. If your dog is old, but still alive, send us that information. And so while the young dogs are interesting, and I’m glad we have a huge population of them to follow, the old dogs are really what are needed right now for our studies. So five years or older, and then the 10 year and older, even if they don’t have a holter and echo. I am told that our numbers are high enough that we can deal with a couple false negatives if they’re 10+ and apparently healthy.

JH: Yeah, the likelihood that a 10 year old dog having developed DCM would still look healthy is so low that you can sort of trust…

SL: Right, based on the disease characteristics.

33:09

JH: Yes, that sounds quite reasonable to me. 

SL: Yeah. 

JH: So this three year old dog signs up, but what you really need is… The owner has gotten all excited about the project when the dog is three, but now you need them to stick with you until the dog is five, seven, hopefully ten. 

SL: Yeah.

JH:  And keep giving you that information. And then it sounds like you’re interested in other diseases as well, which is fabulous. So then you’re hoping that the owner is going to give you other information throughout the dog’s lifetime.

SL: Right, exactly. So it’s not restricted just to DCM. You know, if anything else has developed over the dog’s lifetime definitely send it to us. Yeah, you know, this question of keeping people engaged is difficult. And I understand the fatigue of testing and not feeling like you’re getting anywhere. But we are at a critical point here where we have enough dogs, and I do genuinely believe we have enough dogs who can be phenotyped. It’s just a matter of getting it reported. And so I do think that we have the numbers. And once we get them to the researchers who are interested, and get some results out, that that is another way to keep this community interested and motivated. And that’s on us, and we know that that is our job, and we will work hard towards that.

JH: So what you’re saying is that you have enough dogs that you have the genetic information on that you just need to go back and find those and contact the owners and ask them to actually do the work. 

SL: Right. Yeah, send us whatever you got.

34:46

JH: Um, so definitely what you’re looking for is folks who want to help who have older dogs. Do you by any chance take donations for folks who have younger dogs and want to help but want to support someone with an older dog? Because that’s what you really need right now.

SL: Yeah, you know, I was talking with someone who is a lifelong doberman owner, but the past few dogs have dropped dead and he’s very upset about the current state of things. And he was asking, “You know, what do you need to make a functional tool or to make a robust study?” And I told him the dilemma of only having half our data, so genetic data without the phenotype. And the most efficient way to do this is probably to go for dogs who have already been diagnosed. And if we could fundraise to offset the cost of genetic testing for these dogs, or exceptionally old dogs, I think that could put us well on our way to both goals, which is to get enough data for the GWASs, get enough data for EBVs. And from there, we have a lot to work with.

JH: Yeah, it’s fabulous that you’re pulling all this information together.  Because it needs to be all in one place, and it is just a treasure trove for researchers. And I know that you’re working with some researchers. And I can also say that, certainly, if they didn’t come through I’m sure there are others that if you had that database, people would be desperate to work with the data. So it really is just at this point the difficulty of pulling the information together. 

SL: Yeah. 

JH: And so then I imagine what’s going to happen next, once you get all that data, you’ll hand it to researchers, and they will do what they do, and then they will generate, basically, the EBVs.  Which means that dogs in the future that are genetically tested, we should be able to use that information to say, this dog has this percent chance… And it’s not this percent chance of developing DCM, but this percent chance of passing on the risk of DCM.

36:56

SL: Yeah.

JH: So it’s still just going to be a breeding tool. 

SL: Correct, yeah. But in the interim, the researchers also have direct ability to do GWASs right now. And let’s say they find two other genes and so they add to the picture of DCM. Or maybe they find protective haplotypes. Like, because of that, you know, we can open up the book to a lot more pathways towards progress. And so I don’t think EBVs will be the answer completely. I definitely think we still need the GWASs to help us make more informed decisions. But having more phenotypic data now allows us to do both. And so that is the most critical piece right now. You know, if there’s a NIH researcher out there, who does human cardiac disease research and wants to use dogs as a model, you know, come talk to us. We would be happy to talk with you. (laughter)

JH: They are a fabulous model. For one thing, you don’t have to follow them for as long as you have to follow humans.

SL: Yeah, yeah. And because of the onset of the disease, it probably doesn’t take very long.

JH: Yeah, definitely. Well, so what else should I be asking you about the Doberman Diversity Project? Who else, so you said Robin Laureth was working with you on it. What other volunteers do you have? Or what other stuff does the project do?

38:25

SL: Yeah, so Robin and I head this for the most part. And because of that, we do have limited time to devote to the project. And I think right now our goal is to get as much phenotypic data as we can from everyone. And not just have it be DCM but try to capture as much of the cancers, and the wobblers, and the bloat, and everything that we can to be a central clearinghouse for anyone who wants to do anything that’s doberman related, or who wants to use dobermans as a model so that we can push research forward. 

So we are not research scientists. But what we’re hoping to do is be the central clearinghouse for research scientists. And, you know, I was only recently made aware that most people, I think, with NIH funding have to have to publish into a centralized database so that anyone else can use it. And I don’t think that happens in veterinary research, correct me if I’m wrong. 

JH: Not as commonly. 

SL: Yeah. And so when I realized that I thought, that’s the model that we are trying to go towards also, is that we are that central clearing house. After people use this, yeah, it goes into that centralized database, and then we can more clearly reproduce results, confirm results, and find new results. Because we just don’t know much right now and I think people really want firmer answers. So that’s what we’re hoping to move towards.

40:09

JH:  Yeah, I love that. The way the model, the research model, has worked traditionally has been that a laboratory that’s interested in something like doberman DCM would be expected to do all of the legwork themselves. They’d be expected to go out and find the dobermans and make sure that the holter monitoring gets done, the echoes get done, and that genotyping gets done, and put it together into a database and then publish it. And we’re starting to realize more recently that different groups have different abilities. And that perhaps the group that I work with is very good at doing the analysis, but that people who really have their hands deep into the actual communities are a lot better at gathering the information. And so I love the idea of you guys taking on that part of it and someone else taking on the analysis part of it.

SL: Yeah.

JH: So, thank you so much for coming on. I wish that there were more that I could do to spread the word. And I hope the word gets spread, and that people listening to this podcast who haven’t heard of the Doberman Diversity Project will contact their doberman loving friends and point them at you guys. So if someone wanted to do that, where would they go? Where can they find you?

SL: Yeah, so you can go to our website: dobermandiversityproject.org. It’s the American spelling of doberman so one “n,” or you could Google us. I’m pretty sure we’ll be the first one. So Doberman, with one “n,” Diversity Project. And you will see that we are actively recruiting and enrolling. We don’t currently have funding to offset the costs for the dogs who can help make our research more robust, but potentially that may be there soon. And we have entered one formal relationship with a researcher. We are entering another formal relationship with another researcher to do GWASs. 

So we are very serious about this, and the only limiting factor at this point is owners supplying us the health data. That is the only limiting factor at this point. We’ve got researchers who are interested. We have the genetic data. We just need owners to pop up again and say, “Hey, oh, I tested three years ago. My dog is now six. These are the holter results.” That’s all we need. 

Once we have a robust number of that we can do the studies that doberman owners have wanted us to do. I know that there’s been a lot of confusion about the genetic tests that have come out so far. And if you have confusion about it, and you want clarification, you know, this is the opportunity to do it. We’re sending to anyone who’s interested and some pretty talented researchers. So this is the opportunity to do it. You just have to pop in, report to us how’s your dog doing? Any of those holters? Any cancer diagnoses? If your dog is 10, great, let us know and we’ll take the next steps. So this is the start of something big. And I hope that owners will remember that they tested and update us. And even if you don’t remember, just go ahead and send it to us. We can filter through. That’s what we’re here for. 

43:29

JH:  Yeah, community driven science. I think it’s important to recognize that that’s, I think, going to be the way forward for figuring out a lot of these dog diseases. A lot of the big research money is going for human health and we’re gonna have to do it on our own for dogs, and I think we can do it.

SL: Oh, for sure. I definitely think so. But also, if you are a NIH researcher interested in using dobermans as models, and you have funding, we’re here. (laughter)  

JH: Fabulous. Well, best of luck, and just keep doing what you’re doing. 

SL: Thank you. Thank you, Jessica. I really appreciate being part of your podcast. And we are honored to always be featured here, so thank you so much. I hope this was helpful. 

JH:  It was fabulous. Thank you, Sophie.

Thanks so much for listening. The Functional Breeding Podcast is a product of the Functional Dog Collaborative and was produced by Sarah Espinosa Socal. Come join us at the Functional Breeding Facebook group to talk about this episode or about responsible breeding practices in general. To learn more about the Functional Dog Collaborative, check out www.functionalbreeding.org. Enjoy your dogs.

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