Accurately measuring inbreeding

Pedigree-based inbreeding estimates only go so far. Embark is the first commercial dog DNA test that looks for inbreeding tracts over the entire genome and can detect inbreeding from dozens and dozens of generations back. Not only is Embark the most powerful test for detecting inbreeding tracts that can potentially harbor harmful mutations, but it can also compute relatedness between dogs so breeders can know the COI (Coefficient of Inbreeding) of any potential litter before they make the decision to breed.

Inbreeding depression in Goldens

One of the most popular breeds in America, Golden Retrievers, suffer from a host of diseases, including cancer. The Golden Retriever Lifetime Study is a ground-breaking longitudinal study by the Morris Animal Foundation, following a cohort of over 3,000 Golden Retrievers throughout their lives, aiming to understand genetic and environmental factors that affect health and lifespan. Embark genotyped a cohort of study participants and discovered that inbreeding is also a concern for the breed. Every 10% increase in COI leads to a litter decreasing by one puppy.

Red pigment intensity in coat color

Embark recently discovered that red pigment intensity — found in breeds like German Pinschers and Irish Setters — is a phenotype controlled by at least five genetic loci across dog breeds. This discovery allows Embark to explain 70% of the variation in hair coat pheomelanin intensity across purebred and mixed breed dogs.

By leveraging phenotype data from 3,000 dogs submitted by owners and breeders, Embark now has the ability to predict coat color intensity with high accuracy based on dogs’ genetic information, including in breeds like Golden Retriever, where the phenotype is highly variable.

What causes roaning in dogs?

Embark scientists made the unique genetic discovery that the patterned coat known as “roaning” in dogs is strongly associated with a genomic region on chromosome 38 and likely regulated by the usherin gene (USH2A).

This study may also provide a clue to the genetic origin of the Dalmatian’s unique spots. Up until now, the spots on Dalmatians have been considered genetically and visually distinct from roaning. However, all Dalmatians in the Embark study carried the duplication associated with roaning. This suggests that Dalmatians and dogs who have roaning may share a common ancestry (although more research is needed).

We’re hard at work on others, to name a few:

Gastric Carcinoma (stomach cancer): In collaboration with the lab of Dr. Elaine Ostrander, the Belgian Sheepdog Club of America and the American Belgian Malinois Club, Embark is working to identify the genetic basis of gastric carcinoma.
Wobbler Syndrome: In collaboration with the Doberman Diversity Project and ProjectDOG, we are working to identify genetic variants that might increase risk for developing this condition.
Osteoarthritis and Obesity: These are highly complex conditions impacted by medical history, environment, and nutrition. In collaboration with the scientists at Hill’s Pet Nutrition, we are working to understand the role of genetics in risk for these traits.

Hearing loss in Rhodesian Ridgebacks

Embark scientists discovered a genetic variant associated with early-onset adult deafness (EOAD) in Rhodesian Ridgeback dogs. This variant is a 12-base pair deletion in the EPS8L2 gene, which plays an important role in the inner ear hair cells in humans and other mammals.
Embark is now the first dog DNA test that will inform Ridgeback owners, breeders, and veterinarians of a dog’s risk for this type of EOAD. This discovery was made possible with help from the Rhodesian Ridgeback Club of the United States, projectDOG, and dedicated dog owners and breeders.