Certain Dog Breeds May Suffer from Early-Onset Deafness, Thanks to Gene Mutation
“When we founded Embark in 2015, we did so to get to the root of genetic health disorders in dogs,” said Ryan Boyko. co-founder and 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.”
The focus of the extensive research was Early Onset Adult Deafness (EOAD) in Rhodesian Ridgebacks, also known as African Lion Hounds. These dogs are greatly valued for their speed, strength, bravery, and hunting skills, but they often suffer from deafness.
The Hunt for the Gene that Causes Early Onset Adult Deafness
Some dog-breeders have observed a serious problem with pure-bred Rhodesian Ridgebacks. Many of them suffer complete loss of hearing at one year of age, and some show symptoms of deafness as early as four months old.
In 2009, Denise Flaim, former co-chair of the Rhodesian Ridgeback Club of the United States (RRCUS) Health and Genetics Committee, requested that Dr. Mark Neff and his colleagues at the Univesity of California Davis Veterinary Genetics Lab conduct research on EOAD. The team investigated the matter and was able to determine that the disorder is genetic after finding the general area where the defective gene originates: canine chromosome 18.
But the research still took more than a decade to pinpoint the genetic marker. Collaboration was made between Embark, the non-profit organization projectDOG, RRCUS, and Rhodesian Ridgeback dog owners to be able to conduct a genome-wide association study involving more than 200,000 genetic markers.
Perseverance and Whole-Hearted Cooperation Pay Off
But, finally, Embark has succeeded in identifying the genetic mutation in the EPS8L2 gene. Through further DNA-sequencing and genotyping, it was found that the genetic mutation is recessive. This means that for EOAD to be passed on to any offspring, the mutation must be carried by both sire and dam.
The discovery is hailed as groundbreaking in the world of Rhodesian Ridgeback breeders, who can now prevent EOAD through gene-screening and pairing carriers to non-carriers of the mutated gene.
Nevertheless, Dr. Neff has a bigger vision for this historic discovery. “When we started this research over 10 years ago, we knew a discovery in early-onset adult deafness – one of the most common disabilities in humans and dogs – could provide valuable tools for life science companies using regenerative medicine to develop therapeutics for childhood hearing disorders.”
“Embark’s health discovery engine – fueled by customer participation in research like our annual health survey – is not only crucial for determining the genetic links to canine health conditions, but could ultimately lead to human health discoveries as well.”
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At home, I spend my free time learning how to cook various cuisines. Tiramisu, chocolate mousse, and banoffee pie are my favorite desserts. Playing with our dogs, Mushu and Jerusalem, is also a special part of my day. And, of course, I read a lot – almost anything under the sun. But what really makes me feel alive is meeting people from various walks of life and writing about their stories, which echo with the tears and triumph of an unyielding spirit, humanity, and wisdom.