Deafness Research

The first priority set by the ABCA Health & Education Foundation has been to find the causal mutation(s) behind Early Adult Onset Deafness (EAOD) in the Border Collie, and to develop a mutation-based DNA test to identify dogs who are Affected by the disease, dogs who are Carriers, and dogs who are Normal.

Affected dogs begin to lose their hearing in early adulthood, most commonly between three and six years of age. Before that time, there is no way to distinguish a dog who will go deaf from this disease from one who won’t, without a DNA test. Similarly, throughout the lifetime of a dog, there is no way to distinguish a dog who carries the disease and can pass it on to offspring from one who is genetically free of it, without a DNA test. This is a devastating disease for those who may have spent years training a pup, only to find that it will not be able to work during its most productive years because of deafness, and to realize that the dog may have been bred and passed on the disease genes to its progeny before there was any reason to suspect that the breeding could cause harm. Add to that the fact that EAOD has cropped up in some of the most talented and desirable working lines — in dogs with abilities that many want to perpetuate — and it has been obvious that finding a definitive DNA test for this condition is a must.

Our current initiative, supported by a $33,593 grant awarded in 2016, is a joint effort led by Dr. Hannes Lohi at the University of Helsinki and the Folkhalsan Research Center, working in conjunction with Dr. Jim Mickelson at the University of Minnesota, which has recently yielded very positive results.

The latest (August 2018) progress report from Dr. Lohi’s team states that they have essentially identified the causal gene for EAOD and its likely causative variant. They expect to complete some additional experiments to validate their conclusions prior to submitting their work for publication by the end of the year. In the meantime, the team has begun the process of developing a gene test in collaboration with a very large, well-regarded testing company, with the goal of making this test available to the public by January 2018. For more information about this breakthrough, click here.

Project Documents

EAOD Research Project Contract – Aug 8, 2016
HEF EAOD Project Inception Aug 2016
HEF EAOD Project Update Sept 2018