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Blog /Genetic Disease Research
Breed and Genetics April 13, 2021

New studies on genetic disease in dogs yield human health insights

Wisdom Panel™ scientists have discovered new genetic variants associated with inherited disease in dogs—providing models for future research in human health.

Pet parents are often surprised to learn that our dogs can teach us quite a bit about our own health.

We share our homes, lifestyles, and—as new research shows—even our microbiomes with our pups. And in many cases, we’re susceptible to the same diseases, such as diabetes and certain types of cancer.

Because of these similarities, dogs help us understand the genetics behind many human diseases. The Wisdom Panel™ research team is constantly learning more about how genetic disease affects dogs so we can improve veterinary diagnostics and genetic screening—and ultimately benefit humans, too.

Studying genetic disease in Finnish dog breeds

I’m proud to announce the publication of two studies on genetic disease in Finnish dog breeds. Conducted in partnership with Professor Hannes Lohi’s team at the University of Helsinki, both studies referenced extensive collections of genetic samples—including those from the Wisdom Health Genetics database.

The first study, Intronic variant in POU1F1 associated with canine pituitary dwarfism, identifies a variant associated with an endocrine disease in Karelian Bear Dogs. This research establishes a novel canine model—just the second of its kind—for combined pituitary hormone deficiency (CPHD). In CPHD cases, abnormal development or dysfunction of the pituitary gland affects growth hormones and reproduction.

The second study, A missense variant in IFT122 associated with a canine model of retinitis pigmentosa, identifies a novel gene variant associated with an eye disease called progressive retinal atrophy (PRA) in Lapponian Herders. Though PRA is found in dogs, it has a similar human counterpart: Retinitis pigmentosa (RP) affects nearly two million people worldwide.

Most exciting about this particular study is that the gene we examined, IFT122, had not previously been linked to retinal degeneration in mammals. Thus, this research has established a new model to explore the role of IFT122 in degenerative eye diseases in both humans and dogs.

Advancing health care for both dogs and humans

As a co-author of both studies, I’m thrilled to have contributed to these discoveries, which have practical implications for humans and dogs alike.

These findings will support the development of screenings for CPHD and PRA—targeted genetic screenings like those included in Wisdom Panel™ tests—that can help inform personalized care and improve veterinary diagnostics. Likewise, these screenings can assist with responsible breeding plans working to eradicate disease and improve the overall health of breed populations.

Discovering specific gene variants can also help further our understanding of related health conditions in humans. The newly characterized canine models not only enable additional studies of the conditions as they play out in the affected dogs but also provide a deeper understanding of the biology of the disease and genes in question.

Finally, this research continues to power the science behind Wisdom Panel™ genetic health tests. We’ve genotyped more than two million dogs worldwide to date. And such a large sample size increases the potential for discoveries as we continuously refine and improve our hundreds of genetic health tests.

And as pet parents and breeders ourselves, our team understands the importance of research that helps us all care smarter and love longer.

Want to learn more about the studies?

For more information about the two studies of disease in Finnish dog breeds, check out the press release announcing the publications.

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