Genetic disease resources

Webinar: Canine Genetics 101 

Embark and the Cornell Riney Canine Health Center recently offered the first in a series of events focused on canine genetics in a live webinar Canine Genetics 101. Attendees submitted questions answered by specialized veterinarians and researchers with Embark and the Cornell Richard P. Riney Canine Health Center on how to apply genetics to your breeding program. Topics included applying genetic testing results, responsible breeding practices, and the fun world of coat color.  

Panelists included:  

  • Jacquelyn Evans, Ph.D., assistant professor, Baker Institute for Animal Health, Cornell University College of Veterinary Medicine
  • Jenna Dockweiler, M.S., D.V.M., D.A.C.T., C.C.R.T., C.V.A.T., is a veterinary geneticist at Embark Veterinary, Inc. 
  • Callum Donnelly, BVetBiol/BVetSc, DACT, DACVIM (LA), assistant professor, Cornell University College of Veterinary Medicine 

Moderated by: Rory Todhunter, Ph.D. '92, Professor of Surgery, Director of the Richard P. Riney Canine Health Center, Cornell University College of Veterinary Medicine 

View the recording: 


Rooted in research

Cornell University has been a pioneering institution in the advancement of canine health for more than 70 years. As part of the College of Veterinary Medicine (CVM), the establishment of the James A. Baker Institute for Animal Health in 1951 created the world’s first laboratory dedicated to improving the well-being of dogs through basic and applied research, with an early emphasis on infectious diseases.

In addition to its renowned clinical care, over the last few decades, the college has continued to broaden its canine-related research and become an international leader in the field of genetics and genomics. In 1997, a collaborative team published the first map of the canine genome — paving the way for scientists to develop better tools to predict, diagnose and treat genetic diseases.

Since 2006, the college has maintained a library of canine DNA as part of the Cornell Veterinary Biobank, and four years later, CVM launched the world’s first canine genomics program. Now, united under the Cornell Richard P. Riney Canine Health Center (RCHC), our experts continue push the boundaries of research and clinical treatment to transform the future of canine well-being.

Delving into dogs' DNA

Genetic testing can be an important resource to help understand if your dog is at risk for any hereditary diseases.

Dr. Adam Boyko, associate professor of biomedical sciences, has spent years studying breeds from around the world to identify variations of the canine genome. He says, "“It’s been a labor of love to understand the origins of dogs, and through genetics, we are understanding dog behavior, looking for predisposition to illness and to understand canine aging.”

In 2015, he co-founded Embark Veterinary Inc., a canine genetics company that has developed DNA tests for dogs that allows owners to trace their dog’s family tree and learn more about individual health risks. This ongoing effort has also produced an unprecedented wealth of genetic data that scientists are using to pin-point the origins of hereditary diseases — helping give dogs longer, healthier, happier lives.

As a proud research partner of CVM, Embark is also collaborating with the RCHC so that we can provide dog owners with the best possible information about canine genetic diseases — giving you the resources you need to make the most of your time with your canine companions.

Learn more about the risk factors, clinical signs and treatment options for different genetic diseases:

Cystinuria

Cystinuria is an uncommon, inherited condition that causes an amino acid called cystine to build up in urine. Cystine can be excreted in urine and lead to the formation of bladder or kidney stones.

Diagnosis and veterinary management of this condition in dogs can help avoid painful and potentially dangerous complications. 

Learn more about cystinuria.

Degenerative myelopathy (DM)

Degenerative myelopathy is a disease that affects the spinal cord in dogs, causing progressive muscle weakness and loss of coordination. It acts similarly to Lou Gehrig’s disease, or ALS (amyotrophic lateral sclerosis), in humans. 

There is no cure for DM; however, routine physical therapy may delay the clinical progression of this disease. 

Learn more about degenerative myelopathy.

Dilated cardiomyopathy (DCM)

Dilated cardiomyopathy is a serious disease of the heart muscle causing the heart to enlarge and making it more difficult to pump blood.

In early stages of the disease, dogs may not show obvious signs of DCM. This can make it harder to detect until it progresses into heart failure — when fluid backs up into the lungs or belly.

While there currently is no cure for DCM, medications can help delay the progression of disease, manage clinical signs as they occur and improve dogs’ quality of life. 

Learn more about dilated cardiomyopathy.

Hyperuricosuria and hyperuricemia or urolithiasis (HUU)

Hyperuricosuria and hyperuricemia or urolithiasis (HUU) is an uncommon, inherited condition that causes a substance called uric acid to build up in the blood (hyperuricemia) and urine (hyperuricosuria). This can lead to stones (uroliths) forming in the kidneys and bladder.

Learn more about HUU.

Multi-drug resistance (MDR1)

Multi-drug resistance drug sensitivity is the result of a genetic variant that can place dogs at risk of severe or life-threatening complications after taking particular medications at specific doses. 

Treatment focuses on prevention by avoiding or lowering the dosages of drugs that may cause side effects in dogs who have this genetic variant.

Learn more about multi-drug resistance

Primary lens luxation

Primary lens luxation (PLL) is a painful and potentially blinding inherited canine eye condition. Lens luxation occurs when the ligaments supporting the lens weaken, displacing it from its normal position. Signs of lens luxation may include red, teary, hazy, or cloudy, painful eyes. PLL can cause eye inflammation and glaucoma, particularly if the lens shifts forward into the eye. If left untreated, anterior (forward) lens luxation can lead to blindness and is treated as a medical emergency requiring prompt intervention.

Learn more about Primary lens luxation.

Progressive retinal atrophy (PRA)

Progressive retinal atrophy is an inherited eye disease that leads to blindness in dogs. PRA is a non-painful condition that tends to progress slowly over time, often starting with a decreased ability to see well at night. 

While there is no cure available right now, most dogs adapt well to their vision loss and continue to have a good quality of life. 

Learn more about progressive retinal atrophy.

Von Willebrand Disease (vWD)

Von Willebrand Disease is an inherited bleeding disorder that makes it difficult for blood to clot.

It is the most common inherited bleeding disorder in dogs, and affected dogs may show signs of bleeding — such as skin bruising, bleeding from the gums or nose, and excessive bleeding during surgery.

While there is no cure for vWD, dogs can have a normal lifespan with proper care.

Learn more about von Willebrand Disease.