Jump to content
BC Boards
Kelliwic Border Collies

Preliminary DNA test for Early Adult Onset Deafness now available!

Recommended Posts

We had a board meeting last night and the majority of the meeting was spent on this topic. We will have a formal joint statement between the ABCA and the ABCA Health and Education Foundation coming out early next week. I know many people are anxious to hear the stance of both organizations on the test. However, this is a complicated subject and we have carefully looked into the issue going back a number of years. Combine that with fact that the ABCA is a democratic registry and the logistics of getting information to all the directors, discussing it frankly, and making a reasoned and as accurate decision as possible takes some time. We feel we owe it to the members to be as thorough and responsible as possible in regards to our official position on this test. This is a big consideration and an emotional one for many. Couple that with social media and people get impatient. That's understandable. Please be patient, we will have a very detailed statement on this topic.

 

The statement will appear on the ABCA website when ready next week. The final statement will be voted on by the full board and until that vote occurs, it would be premature to discuss the statement now. I believe the statement will be clear enough that a healthy discussion can be had once the statement is released.

 

Thank you for your patience- Mike Neary

Share this post


Link to post
Share on other sites

If the results come back as affected, what does that mean for the dog exactly? Expect definite hearing loss by age 7? Curious as I don't understand genetics well.

Share this post


Link to post
Share on other sites

If I understand it right, no Waffles, it doesn't mean that. The dog could be deaf by that time, but may not. If they still don't have the actual mutation pinned down it's possible that the 5 markers they are looking at don't hold the key, only tells you that dog is at higher risk of going deaf or passing the deafness on since it has the same markers as other dogs that have gone deaf that they have done dna analysis on.

 

When it's all said and done, it might be where only a certain percentage of dogs with all 5 of the markers will go deaf themselves, might be 100% might be much much lower. That's why more research needs to be done and more dna collected and tested to see if they can refine the testing.

Share this post


Link to post
Share on other sites

Thank you, Mike, and all involved. We are looking forward to hearing more and getting some clarification. You are all volunteers and we know it is sometimes a thankless job.

Share this post


Link to post
Share on other sites

Based on an unofficial statement from the research team, if they have the 2 sets of 5 markers indicating hearing loss, 100% of those dogs go deaf. If they instead have 2 normal sets, 100% maintain their hearing. Dogs who have one defective set and one normal set also maintain their hearing. It's just been a few dogs who have shuffled sets that have not fit the model. In other words, the results will be definitive for most dogs.

Share this post


Link to post
Share on other sites

Based on an unofficial statement from the research team, if they have the 2 sets of 5 markers indicating hearing loss, 100% of those dogs go deaf. If they instead have 2 normal sets, 100% maintain their hearing. Dogs who have one defective set and one normal set also maintain their hearing. It's just been a few dogs who have shuffled sets that have not fit the model. In other words, the results will be definitive for most dogs.

Would "2 sets of 5 markers indicating hearing loss" come back labeled as 'affected' then? Is one defective set and one normal set considered a carrier?

Thanks.

Share this post


Link to post
Share on other sites

Yes, it's normal, carrier or affected test results for most dogs. A small number will be inconclusive.

Share this post


Link to post
Share on other sites

"Although we observed robust associations and replications, none of the candidate SNPs we identified tracked perfectly with adult-onset deafness. This discrepancy has several possible explanations: 1) adult-onset deafness in the Border Collie is a multigenic trait, 2) the risk locus shows incomplete penetrance, or 3) the variants we identified are in linkage disequilibrium with the true disease-causing mutation."

 

Source:

 

Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies

 

Jennifer S. Yokoyama, Ernest T. Lam, Alison L. Ruhe, Carolyn A. Erdman, Kathryn R. Robertson, Aubrey A. Webb, D. Colette Williams, Melanie L. Chang, Marjo K. Hytönen, Hannes Lohi, Steven P. Hamilton, Mark W. Neff

 

http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002898

Share this post


Link to post
Share on other sites

I look at ordering these test kits for my dogs as an investment in the future of the breed. Like with any venture, there is the chance I will not get a return on the investment. I am ok with that. The potential reward, IMHO, far outweighs the risk to my wallet.

Share this post


Link to post
Share on other sites

Thank you for looking that up and posting that Mark that bit, just hope people read it and understand what it means

Share this post


Link to post
Share on other sites

I'm with Liz on this one.

A

Share this post


Link to post
Share on other sites

 

"Although we observed robust associations and replications, none of the candidate SNPs we identified tracked perfectly with adult-onset deafness. This discrepancy has several possible explanations: 1) adult-onset deafness in the Border Collie is a multigenic trait, 2) the risk locus shows incomplete penetrance, or 3) the variants we identified are in linkage disequilibrium with the true disease-causing mutation."

 

Source:

 

Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies

 

Jennifer S. Yokoyama, Ernest T. Lam, Alison L. Ruhe, Carolyn A. Erdman, Kathryn R. Robertson, Aubrey A. Webb, D. Colette Williams, Melanie L. Chang, Marjo K. Hytönen, Hannes Lohi, Steven P. Hamilton, Mark W. Neff

 

http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002898

 

 

 

Published: September 13, 2012

 

 

Mark, are you trying to say there has been no progress on this in the three-and-a-half, nearly four years since the above paper was published? Posting links without explanation or dialogue leave me kind of scratching my head as to what point you're trying to make. Plain speech is best for the the clearest understanding for most average folks like me, and then no one has to guess. Thanks!

Share this post


Link to post
Share on other sites

The normal scientific process for a 100% correlation between genetic test data and a genetically linked disease (a very significant finding) is to publish this finding. Share these data and their conclusions with the greater scientific community for peer review. So where is the publication of the 100% correlation? I've searched the literature for more papers on eaod genetic research and find no new test data has been published.

 

This disease is specific to our breed. Samples for studying this disease must come from our dogs. If a large enough study had been performed to establish a 100% correlation many people in our community would be aware of samples and BAER test results having been submitted. I am unaware of any requests for samples and BAER results between 2012 and now; are you?

Share this post


Link to post
Share on other sites

Yes, they were collecting new samples last year.

 

When I originally spoke with Dr. Neff, we discussed whether the dogs whose genes did not fit the pattern were actually EOD cases or suffered from some other cause of hearing loss.

Share this post


Link to post
Share on other sites

Were the samples collected last year of dogs at least 8 years or already deaf? How could a correlation between the genetic test results and the eaod status be made if the eaod status of the dogs is not yet known?

Share this post


Link to post
Share on other sites

I personally know of DNA that has been collected from young dogs who have gone deaf within the past year.

Share this post


Link to post
Share on other sites

How can true clears or true carriers be established since no one knows when it can be triggered on or where the actual mutation is to verify the dna status?

 

How do we know that old age deafness isn't the same as EOD at 3 or 6, just turned on later?

Share this post


Link to post
Share on other sites

I believe the study has hosted 3-4 BAER/DNA collection clinics since 2012.

 

In April 2012, a A Ruhe and C Williams hosted one such clinic at McCormack Ranch SDT in CA. I attended and the clinic was well attended with many random dogs plus some dogs from known families.

 

In Sept 2013 (?), M Neff, A Ruhe and Colette Wiliams offered another clinic at Meeker SDT (Mike and Laura Hanley can confirm…they were there as I remember them (and others) talking about it). I did not attend.

 

I believe that the research group offered 1 or 2 more BAER/DNA clinics….but I can't recall the specifics (I thought one was on the East Coast). You would have to contact them to verify.

 

The group has periodically made requests for DNA via internet and the community has responded. I know the study as reached out to contact, track down and test many known families.

 

I can't say how many samples they've collected via their clinics, internet presence and word of mouth from the "EOD community". They would need to be asked this question.

 

Of my own dogs, I tested 5 offspring off my suspected carrier sire plus the sire at the 2012 McCormack clinic. A full sister to 4 of the offspring had failed BAER a couple of months prior. All 5 offspring plus the 12 year old sire all BAER tested Normal. I trialed the sire of these dogs until he was nearly 11 yrs and he BAER tested Normal at 12 years shortly before he died. So I have every reason to believe that he was not Affected, but, given that he produced Affected, he is a suspected Carrier.

 

I have had Colette Williams of UC Davis BAER test all the offspring annually since the 2012 clinic. In Sept 2015, C Williams failed two of my dogs, a 3 yr old and a 7 yr old both originally tested BAER Normal in 2012 and subsequent years until onset of deafness. The 3 and 7 yr olds had different mothers but same sire. I have two now 9 yr old offspring tested Normal in 2012, 2013, 2014 and 2015…..and, I hope again, this Sept 2016 if the ABCA decides to offer another BAER clinic. I expect them to be Normal as they still perform at a high level on large trial fields.

 

I know that there are other dogs from these early 2012-2013 clinics, as well as other EOD families, that have been tracked over the past 4 or more years plus some key old dogs that contributed to the early studies. I can't speak to the specifics as these aren't my dogs and the information is confidential between owner and researchers.

 

So, I would not describe the study as inactive since 2012….they have been building data and tracking over time.

 

The rest of your questions are best asked of the study.

Share this post


Link to post
Share on other sites

I know of several EOD producers who BAER tested normal at 12+ years old who had DNA submitted after 2012. They were of particular interested to the research study. Their final push for DNA samples put emphasis on dogs who were BAER testing normal but had produced dogs who went deaf.

Share this post


Link to post
Share on other sites

The research group did make a push for submission of BAER tested known carrier and known affected over the past couple of years. I think they got some good response.

Share this post


Link to post
Share on other sites

When I spoke with Dr. Neff at a genetics conference, his initial data only had a few dogs who did not fit with expected results. I believe one might have been a suspect affected, but was still young and still had normal hearing. The hope was to track that dog to see if it went deaf. One was deaf yet did not have 2 copies of the gene. I don't know if they could rule out other causes for hearing loss. They were hoping to prove their genetic markers were correct by following families of dogs, having sets of DNA from known producers with normal hearing and their affected offspring. In the last few years a number of these families had DNA added to the study.

Share this post


Link to post
Share on other sites

They did this at Rural Hill, NC, but I would have said 2010. Maybe it was later. Alison Ruhe was collecting blood and Suzy Hughes was doing BAER testing. At the time I had all my dogs BAER tested, and several also gave blood. Because I had epileptics in a litter that was more my focus, but my understanding was that the blood would be used for DNA for both studies (epilepsy and EOAD).

 

So I wonder if it makes any sense to donate yet more DNA samples from those same dogs. Alison told me that they sequenced Phoebe's genome (I guess because I could provide samples from so many relatives, affected and not). I have younger dogs who have not been tested, but can I assume the dogs previously tested are already "in" the study? Anyone know?

 

J.

Share this post


Link to post
Share on other sites

Julie, this is on their FAQ's page

If I submitted DNA previously for research, must I submit a new sample?

 

 

projectDOG is testing samples with a semi-automated DNA processing pipeline. This requires all DNA samples to be tracked and processed within this system. This is achieved by ensuring samples for EAOD testing are newly submitted with our barcoded saliva collection kits.

https://fidelis.projectdog.org/frequently-asked-questions/

Share this post


Link to post
Share on other sites

Join the conversation

You can post now and register later. If you have an account, sign in now to post with your account.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

Loading...

×
×
  • Create New...