Tag archives: von Willebrand disease I

The discovery of various disease-associated genetic mutations has greatly changed the way some inherited canine diseases are categorized and perceived by the veterinary community. Through the use of genetic testing developed to identify these discovered mutations, various diseases which were once assumed to have a single underlying molecular cause (due to similarity between disease states) have been found in some cases to actually be caused by many different mutations, often in different genes. This phenomenon, known as genetic heterogeneity, elucidates the way genes work together in pathways and how a disruption in different genes of a pathway may result in similar or nearly identical disease states despite seemingly disparate underlying molecular etiologies. Understanding that there may be one of many different genetic mutations responsible for a dog’s clinical signs can help plot a better course for veterinarians to obtain an accurate, definitive diagnosis and in some cases, may alter treatment strategies.

Pet Owner vs Breeder

The accuracy and specificity of an inherited disease diagnosis are particularly important in the world of dog breeding where every potential health issue must be considered prior to breeding. Unlike general pet owners who may not need to know the specific underlying molecular mechanisms of ...

If you already own a German shorthaired pointer (GSP) or if you are currently in the market for one, you likely realize the high level of intelligence and performance of this breed. With proper training, this high energy gundog can become a hunter’s best friend. Whether running long distance across rough terrain or diving into the water to retrieve a bird, the GSP is happy to work hard, please their owner and most of all, to hunt. Though a relatively healthy breed overall, like all dog breeds, sometimes GSPs can be born with inherited conditions that make life difficult for them or prevent them from doing the jobs that they were bred to perform. 

Some diseases reported in GSPs such as hip dysplasia, entropion, and some cancers, are likely inherited though the specific genetic mutations associated with these disorders are currently unknown. On the other hand, GSPs also can inherit diseases caused by known genetic mutations. Knowledge of specific mutations and how the diseases are inherited, allows for laboratories such as Paw Print Genetics to develop tests to identify dogs that are either genetic carriers or are affected with a particular disease. Paw Print Genetics offers tests for three ...

It is hard to believe that it has been a year since Paw Print Genetics opened its doors and started offering its testing service.  A lot has happened since then.  Prior to offering our testing services for inherited diseases of canines, we had a lot of work to do. We spent many weeks combing the medical literature with the goal of identifying all of the disease mutations associated with medical problems in dogs. After the mutations were identified in the public literature, we developed the tests that showed whether a dog had the normal or mutated DNA sequence. 

For each mutation, two different tests were developed, so that each DNA sequence is examined two times in two different ways. This is how we achieved 100% accuracy and 100% reliability with our testing.  Once the two tests were developed, we then validated the tests. To do this, we enlisted the help from many of our current customers to provide samples on dogs that were known normal, carriers or affected with the diseases for which we developed tests. The results from these samples were submitted to the laboratory directors, PhD geneticists and licensed veterinarians, for review of the data without ...