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Eileen Stein

Report on the EAOD Research Project

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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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Thank you for the update on EAOD research, Eileen!   Great news!

nancy

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I am so glad. Every day, twice a day I've been breaking  Bonnie's heart by doing chores with Darine instead of with her. I am so happy people will be able to avoid this now.  

 

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Which company will be offering the test when it becomes available?

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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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This is great - thanks to all who contributed!

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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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As a owner of a EOD dog (4/5 out of 7 siblings in the litter is affected at age 6)  - And a breeder too - this news is one of the best news in ages.


Would be such a relief to be able to do a test for it in the future before breeding!

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