Tag archives: genetic dog testing

Canine Genetics in Practice- Congenital and Early-onset Inherited Diseases

Canine Genetics in Practice- Congenital and Early-onset Inherited Diseases

Some of the most emotionally challenging canine cases seen in the veterinary hospital are those involving serious illnesses of newborns or young puppies. Owners’ joyous expectations of a long, healthy relationship with their new puppy makes a disease which decreases that puppy’s quality of life or results in early euthanasia, all the more heartbreaking. Though infectious diseases like parvovirus are often of particular concern in young pups, some puppies ending up on the exam room table show signs of one of a wide array of inherited diseases caused by a known genetic mutation. Unfortunately, limitations in available therapies for many inherited diseases often lead to frustrating and emotional outcomes for all the parties involved; veterinarians and veterinary staff included. Thereby, making prevention of inherited disease through the use genetic testing, an essential part of healthy dog breeding.

Historically, methods to prevent inherited diseases have been limited to selective breeding practices. However, an inability to identify asymptomatic carriers of recessively inherited diseases or dogs in the preclinical phase of late-onset inherited diseases, have traditionally made great reductions in disease incidence difficult to obtain through selective breeding alone. Genetic testing is now playing an important role in identifying these dogs such that ...

Canine Genetics In Practice- A Veterinarian’s Role in Preventing Adult-onset Inherited Disease

Canine Genetics In Practice- A Veterinarian’s Role in Preventing Adult-onset Inherited Disease

Veterinarians examine, treat, and diagnose dogs with inherited diseases daily. Though treatments to fix some inherited disorders such as cryptorchidism and umbilical hernias are relatively safe and effective, rarely are the inherited disorders seen in practice remedied with a simple, relatively low-cost solution. In fact, in many cases of inherited disease, treatment options are extremely limited or non-existent. Therefore, an option to prevent these diseases before they occur would be preferable in most circumstances. Genetic disease testing made possible by the discovery of the causal mutations has become the best medicine to combat many inherited conditions.

Genetic testing of dams and sires has become commonplace in many dog breeds as breeders have recognized the power of identifying those dogs at risk of producing puppies with inherited diseases. Unfortunately, however, some breeders have been slow to adopt the routine use of genetic testing as they continue to rely on traditional selective breeding techniques. Limited by the inability to identify unaffected carriers of disease, selective breeding has historically proven relatively ineffective in the pursuit of large reductions in disease incidence.

Adult and late-onset inherited diseases pose an extra challenge in selective breeding because dogs become sexually mature before signs of the disease ...

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

The clotting disorder known as von Willebrand disease (vWD) is a relatively common and potentially lethal disease of dogs. Three general types of vWD (types I, II, and III) have been described based upon the specific genetic cause and level of deficiency in a protein known as von Willebrand factor (vWF), which plays an important role in blood coagulation. Dogs deficient in vWF protein are at risk of potentially life-threatening bleeding episodes when undergoing surgical procedures or as a result of traumatic injury. Therefore, when a relatively high frequency of Boykin spaniels was identified in the Paw Print Genetics (PPG) laboratory to carry a mutation in the VWF gene previously associated with vWDII in German shorthaired and wirehaired pointers (Kramer and colleagues), Boykin spaniel lovers and our team at Paw Print Genetics (PPG) were understandably concerned.

Concern turned to confusion as Boykins expected to be at risk for vWDII (based upon their genetic testing results) failed to show any signs of a clinical clotting disorder. In addition, results of additional blood tests looking at the product produced by the gene on several “at-risk” dogs showed no deficiency in vWF protein and no increase in blood clotting times. At that time ...

Don’t Turn a Blind Eye to Inherited Disease - Preventing Blindness Through Genetic Testing

Don’t Turn a Blind Eye to Inherited Disease - Preventing Blindness Through Genetic Testing

Since we started working with the Boykin Spaniel Society (BSS), both Paw Print Genetics (PPG) and the BSS have learned much about the genetic disease concerns of these wonderful, little brown dogs. By using the founder breeds of the Boykin as a guide, PPG developed the first Boykin spaniel inherited disease testing panel in 2014. Based upon the results collected over two years of testing Boykins, in September 2016, the original disease testing panel was split into two panels; the Boykin spaniel essential panel (containing the most clinically important and/or common diseases) and the supplemental panel (containing diseases of less clinical importance and/or lower incidence).

Two of the four diseases on the Boykin spaniel essential panel are inherited diseases of the eye. Diseases resulting in vision loss or blindness are among some of the most life-altering and troublesome non-lethal diseases of dogs. However, with knowledge of a specific genetic mutation resulting in blindness as well as an understanding of how that specific eye disease is inherited, blindness caused by the mutation can be prevented through the use of genetic testing and informed selective breeding practices based upon test results. Two eye diseases known to be inherited in the ...

Who To Test? - Canine Autosomal Recessive Genetic Diseases

Who To Test? - Canine Autosomal Recessive Genetic Diseases

Genetics play an enormous role in the health of dogs walking through the doors of any veterinary hospital. However, the treatment of an animal with an inherited disease rather than proactive testing of the genetic mutations responsible for disease has been the traditional role of the veterinarian. With an increase in the availability of canine genetic disease testing and great improvements in the ease and convenience of ordering genetic testing through Paw Print Genetics, more and more dog breeders and their clients are having genetic testing performed prior to being symptomatic and learning the benefits of these powerful technologies. As a veterinarian, understanding the basics of genetic testing and how genetic test results can be used to prevent and diagnose disease will keep you current and prepared for your clients as these technologies inevitably become a more significant part of clinical veterinary practice.

One of the more challenging but important aspects of canine genetic testing is deciding what recommendations to make when a dog or one of its relatives are found to be at risk for (or affected with) a particular inherited disease. Appropriate testing recommendations for the relatives of affected dogs may be crucial for prevention of additional affected ...

Degenerative Myelopathy- An Owner’s Perspective

Degenerative Myelopathy- An Owner’s Perspective

One of the happiest days of my life was bringing home a German shepherd puppy to join our family. Like many parents, my wife and I wanted our only son Brandon, who was 5 or 6 years old at the time, to grow up around dogs and help us teach him some responsibility. We visited a family with a litter of 7 week old puppies to let Brandon pick the one that was going to be his buddy while he grew up. Brandon decided on the quietest pup in the litter to become our new dog, Griffey. Our journey with Griffey (Griff for short) began with Brandon and his new companion in the back of our convertible in route to the home we were excited to share with our new family member. My wife and I were hopeful that Griff would give Brandon a best friend for 10 to 13 years. Unfortunately, that wasn’t exactly how things worked out.

Signs of Trouble

We spent many years loving Griff and giving him the best years of his life. Brandon and Griff were inseparable as they aged. They played together, they napped together, and they got into trouble together. At about 8 ...

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 ...

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 ...

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- 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 ...