Embark pinpoints deafness gene in RRs
by Katie Pfaff
Dog genetic company, Embark Veterinary, Inc., has identified a mutation associated with deafness in certain dogs. The gene, EPS8L2, when mutated can lead to early-onset of deafness in Rhodesian Ridgeback dogs.
Dogs with the gene are at increased risk of the disease, which can strike as early as 1 or 2 years old, or as little as 4 months old in purebred canines. Knowing which dogs are at risk and can be managed is helpful in the hunting and sport breed, according to the company. Dogs at risk can be trained visually and adjust by learning from other dogs, according to breeders. The research came about as a collaboration between breeders, pet owners, and scientists at Embark.
"The single constant in the decade-long search for this mutation has been the dedicated breeders who painstakingly worked with their puppy owners to provide the samples that made this discovery possible," said Denise Flaim, former co-chair of the Rhodesian Ridgeback Club of the United States Health and Genetics Committee. "This is a long-awaited tool for Ridgeback breeders, but it should be used wisely. Now we can identify carriers, which can be bred safely to non-carriers, to maintain genetic diversity and confidently produce hearing offspring." The recessive gene needs to be present in both parents as carriers to appear in puppies.
Flaim initially reached out to Dr. Mark Neff, senior director of scientific discovery at Embark about collaborating. Neff, who works at the UC Davis Veterinary Genetics Lab had linked canine chromosome 18 and early-onset deafness in 2009. Once the researchers teamed with the Rhodesian Ridgeback Club, they coordinated a study along with projectDOG, a nonprofit, and analyzed genetic markers for the disease. DNA genotyping allowed the team to identify the deleted gene linked to the disease.
"When we founded Embark in 2015, we did so to get to the root of genetic health disorders in dogs," said Ryan Boyko, chief executive officer of Embark. "This first health discovery is a significant accomplishment by our science team and is the first step toward the world Embark is creating – one where genetics enhances dogs' lives instead of detracting from them. By informing Rhodesian Ridgeback breeders about this genetic mutation in their potential breeding pairs, we can virtually eliminate this condition in Ridgebacks via genetic screening."
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