The Paw Print Genetics Blog

How prevalent is Neuronal Ceroid Lipofuscinosis in the dog?

How prevalent is Neuronal Ceroid Lipofuscinosis in the dog?

Neuronal Ceroid Lipofuscinosis (NCL) is a group of inherited mammalian diseases characterized by abnormal accumulations of a metabolic byproduct known as lipofuscin in nerve cells and various organs of the body.  The accumulation of lipofuscin eventually leads to progressive nerve cell dysfunction and severe neurological symptoms including behavioral changes, balance issues, muscle atrophy, uncoordinated movement, blindness, head tremors and seizures.  Other organ systems can also be affected to various degrees depending on the severity of lipofuscin build up.  Most dogs will die due the disease or are euthanized when neurologic problems progress to the point of preventing normal daily activities.  While most types of NCL begin to cause clinical signs around 1 to 2 years of age in dogs, the age of onset and speed of progression vary significantly upon the type of NCL.  Variable presentation and progression among NCL types is expected given that multiple genes can cause this clinical condition.

Unfortunately, details about disease incidence and prevalence within a breed are often difficult to obtain including NCL.  Without going into an in-depth discussion about statistics, among other conditions, in order to estimate incidence and prevalence of disease for an entire population, individuals ...

Breed of the Week: Cavalier King Charles Spaniel

Breed of the Week: Cavalier King Charles Spaniel

The Cavalier King Charles spaniel, a toy breed best suited as a companion pet, has a very interesting history that perfectly – one that exemplifies how humans have manipulated canine genes through selective breeding.

The ancestry of toy spaniels, from which the Cavalier and closely related King Charles spaniel descend, can be traced to the Far East (likely Japan, which suggests a common ancestry with the Pekingese). It’s believed that these toy spaniels were given to European royalty as gifts.

History shows that the earliest recorded appearance of a toy spaniel in England was in a painting of Queen Mary I and King Philip in the early 1500s. However, it was during the reign of King Charles II (1649-1685) that the small spaniel breeds exploded in popularity – and from when they were first identified with the monarchy by name. So enamored with them was Charles, that the dogs reported had complete freedom within Whitehall Palace – and that Charles had a tendency to pay more mind to the dogs than visitors and state business.

The toy spaniels of Charles’ day were said to possess a flatter skull and short noses, which is the biggest distinction between the two breeds ...

Canine Genetic Counseling

Canine Genetic Counseling

A fascinating and enlightening weekend was enjoyed by those attending the AKC-CHF Parent Club health conference in St. Louis, MO August 9-11.  Thank you to the AKC-CHF and sponsor Nestle Purina for hosting such a fun, educational, informative and classy event!  I was able to attend many presentations on new gene discoveries and gene testing/diagnostics available and coming for our dogs. In addition, I learned about new treatments and therapies including stem cell therapy for injuries, certainly not my area of expertise but absolutely fascinating and exciting for the future of dogs and man!

Something I noticed from many attendees with regard to new genetic testing were many questions and a seeming frustration and/or concern about what to do with this new information - namely what does a dog "with the gene" mean for the breeding of that dog?  One thing that people were told was that dogs may have a dominant gene and in turn have the potential to produce affected puppies, but that they should be concerned about the "gene pool" and about removing dogs with the gene from breeding, especially if a large percentage of dogs in the breed have the gene mutation ...

Healthy vs. Sound Health

Healthy vs. Sound Health

Recently the Paw Print Genetics team attended the AKC Canine Health Foundation’s 2013 National Parent Club Canine Health Conference in St. Louis. The conference was held at the Hyatt Regency and consisted of three days of presentations, studies and the future of canine health across many topics.

Presentations and speakers included: “Inherited Cardiomyopathies” by Kathryn Meurs, DVM, PhD of North Carolina State University; “Regenerative Medicine for Soft Tissue Injuries in the Canine” by Sherman O. Canapp Jr., DVM, MS, CCRT of Veterinary Orthopedic and Sports Medicine Group; “Application of Physical Therapy Techniques to Our Canine Patients: The Current Science and Research Opportunities” by Janet B. Van Dyke, DVM, DACVSMR of the Canine Rehabilitation Institute; as well as breakout sessions covering cancer, nutrition/GI/bloat and, of course, genetic testing.

This is a chance for AKC Canine Health Foundation grantees to show how the monies from the organization are being used, to update parent breed clubs on their findings and what they still need to investigate, as well as to receive feedback from the clubs themselves.

While taking a quick break, I ran into Susan LaCroix Hamil, who is on the Board of Directors for both the AKC Canine Health Foundation ...

Breed of the Week: Collie

Breed of the Week: Collie

When someone refers to a "collie," many people think of the iconic image of Lassie – the dog made popular by Eric Knight’s novel and the MGM television production. However, the term collie more broadly refers to a collective of dogs with similar traits – including the border collie, Australian collie, bearded collie and Shetland sheepdog.

The image of Lassie-type collie is actually what’s known as a "rough" collie or long-haired collie. They were originally bred for herding and driving livestock during the 1700s in Scotland and Wales. The dogs from the two areas had distinctly different characteristics – the Scottish version was large, strong and aggressive in order to herd highland sheep, while the Welsh variety was smaller, more nimble and was used to herd goats. The two were crossed and then likely mixed with Borzoi (which resulted in the long tapered head) to produce the foundation of today’s breed.

While a working dog in ancestry, the shift toward the conformation ring and companion pet exploded after Queen Victoria acquired one in the 1800s. The continued breeding for these purposes has reduced the herding instinct in many lines; the result being that today the instinct is very hit or miss ...

Breed of the Week: Poodle

Breed of the Week: Poodle

Perhaps no other breed epitomizes a show dog as much as a poodle in a Continental or Scandinavian clip, but lumping the poodle into a single venue would be to ignore more than 500 years of breeding and working history.

The poodle originated in Germany (where it was known as the pudelhund) and was popular throughout Europe – it’s even the national dog of France.  It became popular as a pet during the 18th Century, but has a storied history of service. From the battlefield to the duck marsh, the poodle has worked closely with man for hundreds of years – which is probably a reason why it often ranks as one of the most intelligent breeds.

Poodles were originally used for retrieving downed waterfowl for hunters. Their dense, tightly curled and water resistant coat helped keep them buoyant and insulated in the cold water. There are kennels throughout the country that are working to continue the hunting heritage of the poodle by training and testing them in hunting venues. Poodles have also been used since the 17th Century as war dogs, including during World War II as guard dogs. They also compete in obedience, agility, tracking and even ...

Paw Print Genetics Launches New Tests

Paw Print Genetics Launches New Tests

After extensive laboratory validation, Paw Print Genetics has launched 29 new breed-specific tests, bringing the total number of tests offered to 115.  This is one of the largest menus offered by any canine genetic testing laboratory in the world.

Among the new tests are diseases that no other laboratory offers in North America are multifocal retinopathy in the American bulldog, myotonia congenita in the Australian cattle dog, neuronal ceroid lipofuscinosis in the Australian shepherd and dachshund, hemophilia B in the beagle, copper storage disease in the Bedlington terrier, complement 3 (C3) deficiency in the Brittany, ichthyosis in the golden retriever, inherited myopathy in great Dane, startle disease in Irish wolfhound, and severe combined immunodeficiency (SCID) in Russell terrier, just to name a few.

Search our website to find more new tests for your favorite breed or the specific diseases that most concern you.

Paw Print Genetics offers three approaches to testing depending on whether you are screening for potential carriers or testing for affected dogs: 

In the first approach, choose only those diseases that concern you; choose one or more tests.

For the second approach, choose the breed-specific panel that has been carefully selected based on the medical ...

The Tragedy of Canine Genetic Disease

The Tragedy of Canine Genetic Disease

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 ...

Does Paw Print Genetics do Ichthyosis Testing?

Does Paw Print Genetics do Ichthyosis Testing?

The Golden Retriever’s easy going, gentle demeanor combined with their robustness of body, eagerness to please, and significant intelligence have consistently kept them near the top of the most popular American dogs for many years.  As a result, Paw Print Genetics frequently comes in contact with golden retriever owners and breeders looking for specific genetic tests to help make sure their dogs are going to be healthy, and in addition, that their favorite breeding sire or dam is not a carrier for a recessive disease that may be inherited by their offspring.

One of the genetic diseases most commonly tested for in Golden Retrievers is the skin disease, ichthyosis.  Ichthyosis is an autosomal recessive disease occurring due to mutations in the PNPLA1 gene and can be seen as early as the first few weeks of life in affected animals (to be affected, dogs must carry two copies of the mutated gene, one from each parent).  The prefix of the word, “ichthy-”, comes from the Greek word, “ikhthus”, meaning fish.  This is in reference to the fish-like dermal scales that characterize this disease.  Most commonly, dogs present with mild to severe generalized skin scaling of ...

Preventing and Treating Canine Heat Stress

Preventing and Treating Canine Heat Stress

An ounce of prevention is worth a pound of cure, said Benjamin Franklin. While the founding father might have been talking about most things in human life, his advice also applies to canines.

During these hot summer days, commonsense prevention can help keep your dog safe. Dogs don’t do well in the heat; even seemingly mild days in the 70s and low 80s can take their toll quickly. Humidity compounds the heat and makes it harder for your dog to cool down. If your dog is out of shape, exercising in heat takes an even greater toll.

If you’re training your dog for competition – whether that’s field trials or hunt tests, obedience, agility or flyball – it’s best to practice early in the morning when the ground and air temps are at the coolest. Other commonsense precautions to take include: ample breaks in the action, plenty of cool water to drink and swim in between drills, as well as resting in the shade.

If you take the time and provide your dog with the chance to cool down, you should be fine. However, there are a couple of things to keep in mind when watching your dog ...