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Report on the EAOD Research Project


Eileen Stein
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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.

 

 

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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.  

 

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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.

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It is so gratifying to see the years of hard work from so many dedicated people come to fruition.  We did find an affected case at this year's BAER clinic at the Finals, and it truly is sad, as Maja relates.  It's my hope that the ongoing research will involve BAER testing to help clarify the penetrance, and to examine our dogs for other unrelated issues, such as unilateral congenital deafness.  Thanks to ABCA, the HEF, and all who have brought dogs for testing and submitted DNA samples over the years. 

Amy

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“Will it be definitive?”

The answer to this question will depend upon your perspective (breeding prospects or health of that dog).  To address this let me use CEA as an analogy.

The CEA test will definitely determine how many copies of the mutation the dog has (genotype).  This is what we need to know for breeding.

The CEA test will not predict if the dog will have vision issues due to this mutation (phenotype).  Two copies of the mutation are needed to develop CEA vision issues but not all dogs with 2 copies develop vision issues (“go normal”).  This is what the owner wants to know for the future health of the dog.

The EAOD genetic test being developed will definitely determine the genotype of the dog (key for breeding).  It is not known how well the EAOD genetic test will predict if the dog will develop EAOD (phenotype) for dogs with 2 copies of the mutation.  The EAOD test will be predictive for dogs with 0 or 1 copy of the mutation; the phenotype will not be EAOD.

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I've just received word that the DNA test for EAOD will not be available this month, as hoped.  The new estimated availability date is March/April.  I'm guessing that means April.

 
I've learned over the years that it's not uncommon for it to take longer than first anticipated to bring a new test to functional availability to the general public.  I know we are all disappointed to have to wait a few more months to test our dogs, but the delay is not due to any problems with the test itself, only to getting it reliably implemented.
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The latest word from the Discovery Manager at Genoscoper Laboratories (mydogdna.com), the company our researchers are working with, is that they regret the delay and will do everything in their power to have the test available as close to Mid-May as possible.

Note:  I originally posted the full email I received from Genoscoper, but have removed that because of confidentiality strictures.  If you copied that email, please don't disseminate it.  The key portion is what's written here. 

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