EAOD Research Project Report – September 2018

The ABCA Health & Education Foundation has received a progress report from Dr. Hannes Lohi’s team studying 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 before 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 this 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 test prices lower.

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 very large, well-regarded testing company. The intent is to ensure that a test is available for veterinary 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 do 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, or 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.

BAER Testing DNA Collection 2017 Finals

BAER Testing and DNA Sample Collection at the 2017 Sheepdog Finals

As a service to ABCA members and to advance.research into the genetic conditions that affect our Border Collies, the ABCA Health & Education Foundation will be offering free hearing tests for ABC registered dogs at the USBCHA Sheepdog Finals this year, and will also be collecting DNA samples to be used for deafness research and to be stored in our DNA bank. The BAER and sample clinics will take place on Sept 27-29 (Wednesday, Thursday and Friday) at the trial site. BAER testing will be done by Dr. Colette Williams, whose credentials are excellent and who was the tester at last year’s BAER clinic. We hope that our members — especially owners of dogs with suspected hearing loss, from lines known to have hearing loss, or those from previous finals clinics recommended for follow-up — will take advantage of this BAER testing opportunity.

To participate, please fill out a copy of this questionnaire/consent form for each dog and send it, together with a copy of the dog’s pedigree, to Eileen Stein. The documents can be sent either by email (Eileen Stein) or by postal mail (PO Box 41, Shady Side, MD 20764), so long as they are received by September 21. If you are unable to submit the documents in advance, please bring two copies of each with you to the clinic. Dogs will be entered on the BAER list when paperwork is received and will need to submit a DNA sample at the clinic.

All health information submitted to the Foundation will be treated as strictly confidential, and will not be used in any way that would disclose identifiable information or testing results to anyone but the dog’s owner.

EAOD Project Update

As of the close of 2016, the HEF has acquired DNA samples from 400+ North American dogs, over 75 of whom have been BAER tested. Whole Genome Sequencing is currently being conducted on 8 affected dogs.  The sequencing should be completed within the next two weeks, after which the data will be analyzed, with the Genome Wide Association Study to follow, based on the results of the WGS.  Our sincere thanks go out to all of you who have contributed samples, pedigrees, information and financial support to this ongoing effort. 

Samples Needed for Border Collie DNA Bank

The ABCA Health & Education Foundation (HEF) is moving forward with its mission to bank Border Collie DNA and to support important research into the causes of genetic diseases in Border Collies.

We will be fully sequencing the genomes of 10-20 Border Collies! The complete genetic information from these dogs will become the initial foundation of our DNA bank. In this first phase of collection, we want to obtain samples that can be used to support ongoing research into the two most critical genetically linked diseases in our breed — early adult onset deafness (EAOD) and epilepsy. But the sequencing information can also be used for research into other disorders as well, now and into the future. And by fully sequencing dogs who are only distantly related, we can expect to capture the widest possible array of gene variations across the spectrum of our breed.

We specifically need dogs that fall into the following categories:

  • Dogs affected with EAOD who went deaf between the ages of 2 and 8, and are as unrelated to each other as possible.
  • Dogs with idiopathic epilepsy who are as unrelated to each other as possible.
  • Dogs from lines with no known incidence of epilepsy, and no known incidence of EAOD.

These dogs must be over the age of 8 with no hearing loss, and as unrelated to each other as possible.

And now for the hardest category to find: Dogs unaffected by EAOD, who were bred to dogs that did become affected with EAOD, and who produced at least 8 pups from such mating(s) (in one or more litters), all of whom reached the age of 8 with no hearing loss. These dogs will of course be old now, and there won’t be many of them, but they are almost certain not to be carriers of EOAD, and so they are the ideal controls for research. If you have such a dog, please contact us! If you have a dog that comes close to meeting these criteria, please contact us too. And if you know someone with such a dog, please urge them to contact us.

If you have a dog that fits into any of these categories, please go to https://bordercolliefoundation.org/get-involved/genome-sequencing/ for details of how to propose your dog for inclusion in this project. In order to achieve as much diversity (unrelatedness) as possible among the dogs to be sequenced, we will need your dog’s ABCA registration number plus permission to access his/her pedigree information. Please give details if your dog has been BAER tested. All submissions and results will be kept confidential. There will be no charge for participation, and the HEF will pay for any BAER testing that may be necessary.

Best of all, if your dog is among those chosen for sequencing, you will receive a copy of his/her whole genome, at no cost to you!