Author archives: Casey Carl

Genetic Testing of the Symptomatic Dog

Genetic Testing of the Symptomatic Dog

It does not come as a surprise to veterinarians that many of the diseases they see in clinical practice have a hereditary component. If a genetic disease is amenable to treatment, veterinarians are typically well equipped to improve quality of life based upon their patient’s clinical signs. However, since clinical signs alone don’t always point to a specific definitive diagnosis, veterinarians treating inherited disease are often left with unanswered questions about the root cause of the medical problem. Paw Print Genetics offers genetic testing for over 140 different genetic diseases to help veterinarians shorten their list of differential diagnoses and identify the specific genetic mutation responsible for causing the clinical signs they are seeing, thereby, allowing for more specific therapies and recommendations to be made for the benefit of their patients.

Breed Specific Genetic Testing

Many inherited conditions seen in dogs are breed specific or have only been described in particular breeds or breed groups. For instance, one specific mutation in the canine HSF4 gene responsible for early-onset hereditary cataracts has only been described in the Australian shepherd and closely related breeds. Searching a specific breed or symptom on the Paw Print Genetics website will simplify the process of choosing ...

Prevention Is Smart Breeding- PFK Deficiency in the English Springer Spaniel

Prevention Is Smart Breeding- PFK Deficiency in the English Springer Spaniel

Likely originating in Spain, the spaniel family of dogs have long been important companions to bird hunters around the world. As late as the 1880’s, springer and cocker spaniels were born in the same litters and were only differentiated by size after birth. Dogs under 28 pounds were considered “cockers” and were used for their ability to hunt the small wading bird known as the woodcock while the larger “springers” were used to flush game birds to be captured by trained birds of prey (which were later replaced by firearms). Separate breed status for cocker and springer spaniels was established in 1902 by the Kennel Club of England and the English springer spaniel (ESS) was formally recognized by the American Kennel Club in 1910. Since that time, the ESS has been further differentiated into the leaner and less densely haired “field” variety and the heavier boned and thicker coated show or “bench” lines.

Like other breeds, along the historical path to the modern ESS, the breed has developed some inherited disease concerns that keep breeders on their toes. Luckily, some of these inherited diseases can be eliminated from blood lines though the use of genetic testing technologies and selective breeding ...

Prevention is Smart Breeding- Cystine Bladder Stones in the Newfoundland Dog

Prevention is Smart Breeding- Cystine Bladder Stones in the Newfoundland Dog
'Scout' courtesy of Brad Geddes via Flickr, Creative Commons license

From its early history as a North American working dog used to retrieve fishing nets and perform human water rescues, the beautiful and intelligent Newfoundland dog has carved out a well-deserved place in the heart of dog lovers around the world. Their characteristic large size, marked by heavy bones, powerful musculature, webbed feet, and thick hair coat make the Newfoundland particularly adept at tasks involving swimming. However, they are just as capable and content pulling carts on land and performing other land-based tasks. In addition, their generally calm, loyal, and affable temperament have helped establish them as great family dogs.  

Over the years, Newfoundland breeders have selectively bred dogs that have displayed the most desirable characteristics in an effort to improve their breed. Unfortunately, alongside these desirable traits, sometimes the predisposition to produce offspring with certain inherited diseases are also silently passed from generation to generation in the form of genetic mutations. Such a genetic mutation found in the canine SLC3A1 gene (first described in 2000) is responsible for a potentially life-threatening condition in the Newfoundland known as cystinuria. Luckily for Newfoundlands and those that love them, cystinuria can be eliminated from most blood lines through the incorporation of ...

Integrating Genetic Testing Into Veterinary Practice- Mixed Breed or Pure Bred Pet Dogs

Integrating Genetic Testing Into Veterinary Practice- Mixed Breed or Pure Bred Pet Dogs

For many years, an extensive physical exam, fecal sample testing, vaccinations, and deworming have been the mainstays of new puppy veterinary visits. While all of these tried and true steps are crucial in making sure that a puppy is healthy and stays that way, advances in genetic testing technologies are now revolutionizing the veterinarian’s approach to addressing and anticipating potential health issues in young dogs. Though inherited diseases are seen by veterinarians on a frequent basis, many veterinarians do not realize that genetic testing for diseases is available or understand how clinically helpful testing puppies at their first visit can be. How often do you discuss puppy genetic testing with your clients?

How Can Genetic Testing Improve Veterinary Practice?

The implications that genetic testing results can have for a dog’s veterinary care vary by a specific disease’s age of onset, progression, and clinical signs. Early diagnosis of late-onset inherited diseases allows for your clients to become educated about what to expect and in some cases, take preventative measures and plan for life changes. Knowledge that a dog is at-risk for a particular late-onset disease also allows for early diagnosis and implementation of early treatment when possible. In some cases, clients ...

The Von Willebrand Disease Type II Mutation and the Boykin Spaniel

The Von Willebrand Disease Type II Mutation and the Boykin Spaniel

Von Willebrand disease (vWD) is a group of relatively common, inherited disorders of blood clotting in dogs. First described in humans in the 1920’s, vWD is now known to be caused by various mutations in the vWF gene which serves as a blueprint for a protein known as von Willebrand factor (vWF). The vWF protein plays an important role in the cessation of bleeding by binding and adhering platelets to wound sites. VWD is categorized into three main classifications (I, II, and III) based upon the quantity and structure of vWF protein present in affected dogs.

In 2004, a scientific paper was published by Kramer and others which described a specific mutation in the canine VWF gene associated with vWD in the German shorthaired pointer (around the same time, the same mutation was also identified as a cause of excessive bleeding in the German wirehaired pointer). Classified by clinical presentation as von Willebrand disease type II (vWDII), the discovered vWDII mutation has only been described in the scientific literature for the two German pointer breeds. However, the Paw Print Genetics laboratory identified the same mutation in several other breeds including the Boykin Spaniel. To our surprise, the mutation has been ...

Integrating Genetic Testing Into Veterinary Practice- Breeding Dogs

Integrating Genetic Testing Into Veterinary Practice- Breeding Dogs

Most veterinarians are well aware that canine hip and elbow radiographs, echocardiograms, and eye examinations have become routine veterinary health clearances requested by dog breeders. The goal of these diagnostics is to help breeders to improve their blood lines and produce healthy puppies. However, unless you work in a practice with a heavy canine reproduction case load, it is likely that you are less familiar with the genetic testing employed by breeders, what genetic tests are available, and how the results of genetic testing can help your dog-breeding clients attain their goals. Now that genetic testing has become a common addition to other pre-breeding canine health testing, gaining an understanding of available genetic testing and offering a service to help your clients complete their genetic testing through Paw Print Genetics (PPG), may increase the value of your customer relationships and build client loyalty, while at the same time, fulfilling your veterinary goal to improve the quality and length of puppies’ lives. How often do you discuss genetic testing with your dog breeder clients?

Dog Breeding and Genetic Testing

Though vet school curriculums have historically addressed canine inherited diseases and treatments for these conditions, much less emphasis has been placed on ...

Prevention Is Smart Breeding- Urate Bladder Stones in the Spanish Water Dog

Prevention Is Smart Breeding- Urate Bladder Stones in the Spanish Water Dog

Though reliable accounts marking the early origins of the Spanish water dog (SWD) are lost to history, likely ancestors of the SWD (and probably the Portuguese water dog) were described in the Iberian Peninsula around the 12th century. Primarily used as a herding breed, the Spanish water dog has also been trained to perform tasks for fishermen and hunters including towing boats to shore, gathering fishing nets, and retrieving game from waterways. Though still used as working dogs in modern day Spain and other countries, the demand for Spanish water dogs dropped precipitously during the industrial revolution of the late 18th and early 19th centuries when machines took over many tasks historically performed by the SWD and other breeds. This decrease in demand led to a decline in the world Spanish water dog population which still remains relatively small today.

In general, dog breeds with smaller population sizes tend to also have a smaller amount of genetic diversity within the breed. This means that any two individual dogs from a small breed population are more likely to share the exact same genetic information at any given location in their genome, including disease associated genetic mutations. This is ...

Prevention Is Smart Breeding- Progressive Retinal Atrophy and the American Eskimo Dog

Prevention Is Smart Breeding- Progressive Retinal Atrophy and the American Eskimo Dog

Despite its name, the roots of the American Eskimo dog can be traced back to Germany where it was known as a white colored, miniature to medium sized variety of the German spitz. This well rounded farm dog came to the United States with German immigrants in the early 20th century and adopted the name American spitz in the World War I era when war related anti-German sentiment and American patriotism were widespread. The breed was first recognized as the American Eskimo dog (AED) by the United Kennel Club in 1919 and was accepted by the American Kennel Club for registration in 1995. Known for its alert demeanor, the AED makes an excellent watchdog that alarms its family of potential danger through warning barks. The AEDs intelligence, fast learning, and desire to please have made it a competitor in the agility ring and obedience trials. Though not universally recognized as three separate varieties, the modern AED is often split into three size groups (toy, miniature, and standard).

Despite its many talents, beautiful physical characteristics, and intelligence, like other pure breeds, the AED has developed some inherited disease concerns over the course of its development that have caused significant issues ...

Prevention is Smart Breeding- Ichthyosis and the Norfolk Terrier

Prevention is Smart Breeding- Ichthyosis and the Norfolk Terrier

There are few dog breeds that can match the spirit and spunk of the Norfolk terrier. Prior to the recognition of the Norfolk terrier as its own independent breed, this small, English bred working terrier fell under the Norwich terrier banner, in which either drop or prick ears were recognized as acceptable traits. With time, Norwich breeders began to differentiate dogs based upon ear carriage. The drop eared members of the breed eventually became known as the Norfolk terrier, thereby splitting the breed into two very similar, yet distinct lines. The Norfolk terrier was officially recognized by the English Kennel Club in 1964 and by the American Kennel Club in 1979. Two independent breed standards were established for these breeds and despite their common roots, the breeds have diverged slightly in their physical appearance over the past few decades. The Norfolk terrier is well known for their energy, loyalty, bravery, and affectionate demeanor. Breeders of the Norfolk terrier take pride in producing dogs with great temperament while maintaining the breed’s ability to work. That being said, today’s Norfolk terrier is more commonly found in homes as a companion animal rather than fulfilling its original purpose of hunting rodents and other ...

Prevention Is Smart Breeding- Ataxia and the American Staffordshire Terrier

Prevention Is Smart Breeding- Ataxia and the American Staffordshire Terrier

With a beautiful variety of coat colors and markings in combination with their impressive muscular build, the striking appearance of the American Staffordshire terrier (AST) is one to behold. The modern AST can trace its origins to 19th century England when bulldogs of the time were bred to terriers in an attempt to create a dog with the most desirable personality traits of each breed (the specific breed of terrier used in the early breedings is in dispute among domestic dog historians and may have actually been multiple terrier breeds). In 1972, the original name of the breed (used from the time of their 1936 acceptance into the American Kennel Club), Staffordshire terrier, was changed to the current, American Staffordshire terrier by breeders to distinguish their breed of heavier, American bred dogs from the original Staffordshire terrier of England.

As the AST has progressed as a breed, so has the understanding of the genetics that underlies the breed we see today. In addition, the discovery of particular genetic mutations responsible for causing inherited diseases has allowed for the development of genetic tests to identify nonsymptomatic carriers and young dogs affected with late-onset inherited disorders. Through the genetic knowledge gained ...