Tag archives: Canine Genetic Disease

Paw Print Genetics partners with a number of different organizations. In many cases, the organization comes to us wanting help in providing members with educational materials on genetics to promote genetic testing among their members. In other cases, we see a need in an organization for better education and we want better visibility to their membership.  In either case, our partnerships are limited to providing genetics education when desired, discounts to members to promote testing, and supporting their events with raffle items or prizes, such as gift certificates for free testing. 

You may have noticed that some of the organizations and clubs that we have partnered with may be considered nonconforming in the sense that some are not AKC recognized, nor are they well known.  Some individuals have recently questioned our integrity or intentions with these groups.  In partnering, our only agenda is to promote healthy dogs and genetics education.  We do not have any other agenda.  Paw Print Genetics will accept samples from all dogs, regardless of breed, color, conformity to published standards, registered, rescued or adopted.  We do not discriminate when it comes to promoting genetic testing and healthy dogs.  ...

The intelligent, prey-driven English springer spaniel (ESS) has forged its path as a popular, hardworking companion for bird hunters while maintaining a loyal and affectionate personality suitable to family life. Until the early 1900’s, springer spaniels were produced in the same litters as cocker spaniels; springers were chosen from the largest puppies of the litter and were trained for flushing or “springing” game while the smaller littermates were labeled cocker spaniels and were trained for hunting the elusive woodcock. Since then, springer spaniels have been further split into the generally leaner, shorter haired field (hunting) variety and the denser boned, densely haired show (“bench”) line. Unfortunately, like other purebred dogs, English springer spaniels are known to inherit genetic diseases that can keep some individuals from reaching the great potentials for which the breed is capable. One such inherited condition is an eye disease known as progressive retinal atrophy, cone-rod dystrophy 4 (PRA-crd4) caused by a mutation in the RPGRIP1 gene.

Progressive retinal atrophy (PRA) is not a single disease, but rather a group of inherited diseases each caused by different genetic mutations in different genes. The various forms of PRA affect over 100 different dog breeds. Though there are variations ...

When we look at the vast majority of genetic tests currently available for canine inherited diseases, we find a large number of diseases that can be predictably diagnosed with our current technology. For most of the available canine genetic tests, dog breeders understand that there are three commonly used designations applied to a dog for any given inherited disease; normal, carrier or affected. By knowing the way a disease is inherited (recessive vs dominant vs X-linked) and the number of copies of a mutation present in an individual, genetic testing laboratories like Paw Print Genetics can give predictable information about these diseases because they have a clear, 100% correlation between the cause and the illness. 

Unfortunately for dog breeders, inheritance is not always as clear cut as a simple recessive or dominant pattern. In fact, the diseases with a clear-cut inheritance pattern likely only make up a small percentage of the diseases with inherited components. Some of the most frustrating diseases for dog breeders and geneticists are those which pose an increased risk by the combined effects of multiple genetic mutations and/or environmental conditions. In these multifactorial diseases, rather than a 100% correlation between a singular genetic mutation ...

It’s easy to see why the beagle has been ranked near the top of AKC registered dog breeds since their acceptance in to the AKC registry in 1885.  Their amiable personality, fantastic sense of smell, and natural talent as a hunter and guard dog have kept them popular with American dog lovers for the past 130 years. Unfortunately, like most popular, purebred dog breeds, particular inherited diseases can make life tough for some beagle blood lines. Luckily, the genetic cause of some of the beagle’s known inherited diseases have been discovered. Thus, allowing laboratories such as Paw Print Genetics to develop genetic tests that allow for the elimination of these disorders through informed selective breeding. The following genetic tests are available at Paw Print Genetics:

Musladin-Lueke Syndrome

One of the largest inherited disease concerns for beagle breeders is a disease known as Musladin-Lueke Syndrome (MLS). MLS is listed on the Canine Health Information Center (CHIC) as a required test for the beagle and is typically identified in affected puppies by 2 to 3 weeks of age. MLS is a connective tissue disease that causes stiff, contracted joints, and inelastic skin giving affected dogs a characteristic tip-toe walk described as ...

If you are a dog owner that values intelligence and obedience above all else when choosing a dog, it’s likely you are familiar with the border collie. This hardworking canine breed who received its name from its likely place of origin along the border of England and Scotland, has historically been bred for working ability above all and is widely regarded as one of the most intelligent breeds in the world. Though generally considered a relatively healthy breed, like other purebred dog breeds, the border collie is known to inherit several genetic diseases; some of which are known to be caused by specific genetic mutations. Discovery of the specific mutations responsible for genetic diseases allow laboratories like Paw Print Genetics to develop tests to identify dogs that carry the mutation. This information allows breeders to selectively breed these carrier dogs to dogs that are clear of the mutation in order to avoid producing puppies with these diseases. Three specific inherited diseases are listed on the Canine Health Information Center (CHIC) website as optional recommended tests for the border collie. Testing for these diseases is available from Paw Print Genetics:

Collie Eye Anomaly

One of the biggest inherited disease concerns for ...

An earlier article discussed congenital vs. adult onset conditions.  There seems to be some confusion as to the importance of the timing of disease symptoms.  I wanted to expand on the topic that we refer to as “age of onset”, or the age in which a condition starts to show symptoms.  Breeders may initially only be concerned with conditions that are congenital – present at birth.  While I agree that genetic screening for congenital disorders is important, screening for adult-onset conditions is also important, and should not be ignored.

Testing for congenital genetic conditions is probably a “no-brainer” for most breeders.  Genetic testing gives someone the knowledge to selectively breed dogs in order to reduce (or even eliminate) genetic diseases in the newborn pup.  As you may already know, breeding takes time and considerable resources.  Most breeders are also emotionally invested in the dogs they breed.  For many, it’s not just a hobby; it may be a full-time job or even a way of life.  Congenital diseases may cause a lot of discomfort to the affected pup, and can cause anxiety for everyone involved.  The cost of medical care may ...

Since we opened Paw Print Genetics in April of 2013, we have had the opportunity to work with many breeders and other dog owners who already had previous experience with genetic testing of their dogs. Though the vast majority of these clients have praised us for our ease of ordering, unrivaled customer service, and quick test results, some clients have expressed some confusion in regards to why (or how) we use cheek swabs as our default method of DNA collection opposed to other methods that they were already familiar with.

In The Beginning

When making choices about how Paw Print Genetics would operate, we decided we wanted to eliminate as many barriers to canine inherited disease testing as possible. Not only did we want to make testing more convenient by offering as many disease tests as possible under one roof, we also wanted to make the experience of DNA collection easy and more convenient. To accomplish this, we chose to allow our clients to collect DNA in their own home or kennel with cheek swabs we provide (at no additional cost) after an order is placed. This decision eliminates the time, effort, and expense our clients had previously had to ...

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 ...

Dedicated in loving memory of Rigel - the blue star Afghan - may his star burn brightly.

Many understand the "need for canine health testing".  People will dutifully test their dog’s hips, eyes (CERF exam), maybe elbows, thyroid, knees and the one DNA test for the BIG recessive genetic disease that has been known to exist in their breed for years.  This sequence is what they have been taught that they must do to be a responsible breeder by the forefathers in their breed clubs.  But how much do people really understand the need for genetic testing?

What about uncommon genetic disease in the breed?  Every individual carries recessive non-working or disease genes; many of which are uncommon and can run silently in the family for generations before two carriers are bred together and produce affected puppies.   It has often been touted that one reason for inbreeding is to identify and weed out recessive disorders, but how often is this actually done?  If the problem is uncommon and unknown, affected individuals, especially those that die young, can go undiagnosed, especially if each and every puppy is not extensively evaluated.   So the problem occurs unrecognized, unidentified and ...

The neuronal ceroid lipofuscinoses are a group of inherited lysosomal storage disorders.  Lysosomes are structures in cells referred to as the stomach of the cell that breakdown waste products and other byproducts in the cell.  NCL affected dogs lack one of several enzymes necessary for the normal breakdown of certain types of fat or protein in the cells (called lipopigments.)  As this "debris" accumulates in neuronal cells (and to a lesser extent in other cells), the animal's mental and motor functions deteriorate.

Dogs with NCL start out as apparently normal and fully functional dogs.  Depending on which subtype of NCL they have, they will begin developing symptoms anywhere from 6 months to 4-6 years of age (for the adult onset varieties).  NCL is found in both humans and dogs as well as other species and share symptoms that include a progressive loss of mental and physical nervous system functions.    These exhibit as mental/intellectual decline and motor disturbance progressing to seizures, motor problems such as lack of muscle coordination, abnormal gait, difficulty balancing, visual disturbances progressing to blindness and behavioral changes including aggressiveness, dementia, aimless wandering behavior with episodes of confusion, depression and ...