Embark discovers mutation associated with breed-specific hearing loss, in first-ever canine health discovery using genetic data from commercial testing

Determining the genetic mutation associated with early adult deafness in Rhodesian Ridgebacks will ultimately help breeders reduce the prevalence of hearing loss

BOSTON, March 2, 2022 /PRNewswire/ — Embark Veterinarian, Inc., a world leader in canine genetics, today announced that it has made the first-ever discovery about canine health using genetic data from commercial testing. Embark scientists have determined that a genetic mutation in the EPS8L2 is associated with early adulthood deafness (EOAD) in Rhodesian Ridgebacks.

(PRNewsfoto/Embar Vet)

Early adult deafness can lead to hearing loss in dogs at 1-2 years of age, and some purebred Rhodesian Ridgebacks lose their hearing as early as 4 months of age. For a breed known to excel and find satisfaction in competitive dog sports and hunting, hearing loss can be particularly devastating.

This revolutionary discovery is the result of more than a decade of research and collaboration between breeders, dog owners and scientists. Embark Senior Director of Scientific Discovery Dr. Marc Neffand colleagues at the UC Davis Veterinary Genetics Laboratory, discovered a genetic link between EOAD and canine chromosome 18 in 2009. But it wasn’t until Embark teamed up with the Rhodesian Ridgeback Club United Statesthe non-profit association projectDOG, and owners of Rhodesian Ridgeback dogs that a genome-wide association study was performed on 185 Rhodesian Ridgeback dogs, using 220K+ genetic markers. This analysis localized the genetic association to the EPS8L2 gene, and further DNA sequencing and genotyping identified a deletion that was fully predictive of disease. The mutation is recessive, so both sire and dam must be carriers of the mutation for the offspring to exhibit EOAD.

“When we began this research more than 10 years ago, we knew that a discovery in early adult deafness – one of the most common disabilities in humans and dogs – could provide valuable tools for companies in the life sciences using regenerative medicine to develop therapies for children’s hearing disorders,” said Dr. Neff. “Embark’s health discovery engine — powered by customer participation in research like our annual health survey – is not only crucial for determining genetic links to canine health conditions, but could also lead to discoveries about human health. »

“When we founded Embark in 2015, we did so to get to the root of genetic health disorders in dogs,” said Embark’s CEO. Ryan Boyko. “This first health discovery is a significant achievement by our science team and the first step towards the world that Embark is creating – a world where genetics improves the lives of dogs instead of harming them. By informing Rhodesian Ridgeback breeders of this genetic mutation in their potential breeding pairs, we can virtually eliminate this condition in Ridgebacks via genetic testing.”

When it is determined early on that a dog will eventually lose its hearing, owners, breeders, and veterinarians can become proactive about caring for the dog. This may mean training using visual cues instead of sounds, adding tags to leashes and collars identifying the dog as deaf, and avoiding startling the dog. In fact, Ridgebacks often adapt quite well to this form of inherited deafness, especially if they have a hearing canine housemate whose signals they can follow.

“The one constant in the search for this mutation for a decade has been the dedicated breeders who worked painstakingly with their pup owners to provide the samples that made this discovery possible,” said Denise Flaimformer co-chair of the United States Health and Genetics Committee’s Rhodesian Ridgeback Club, who first contacted Dr. Neff to initiate the research in 2009. “This is a long-awaited tool for Ridgeback breeders, but it needs to be used Now we can identify carriers, which can be safely crossed with non-carriers, to maintain genetic diversity and confidently produce hearing offspring.”

Embark is now the only dog ​​DNA test that will inform Rhodesian Ridgeback owners, breeders and veterinarians of their dog’s risk for this type of EOAD. Rhodesian Ridgeback owners who have been tested after approx. December 2021 will see the results of this new genetic variant in their my.embarkvet.com results dashboard. Customers who have already tested their Rhodesian Ridgeback December 2021 and who wish to have their dog tested for this new variant can contact [email protected].

About boarding
Embark Veterinary, Inc. was started in 2015 by two brothers, Adam and Ryan Boyko, who have a passion for scientific research and a lifelong love for dogs. Starting with its best canine DNA test, Embark is building a powerful scientific discovery platform that will accelerate advances in personalized dog care. Embark offers the most scientifically advanced, trusted, and top-rated dog DNA tests on the market that help dog owners, breeders, and veterinarians learn more about their dog’s breed, health, and ancestry. dog. Customers get hundreds of actionable insights that inform more proactive care, and each test fuels new research to help all dogs live longer, healthier lives. Embark is an official research partner of Cornell University College of Veterinary Medicine, has been named to the Inc. 5000 list for the past two years and has been included on Forbes‘ Next list of billion dollar startups.

For more information, visit Embark’s website at EmbarkVet.comand follow Embark on Facebook, Twitterand instagram.

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SOURCE Embark Veterinary Inc.

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