Author archives: Lisa Shaffer

National DNA Day

National DNA Day

Today, April 25th, is National DNA Day. This day commemorates the completion of the Human Genome Project in 2003 and the discovery of the DNA double helix, our blueprint of life, in 1953.  The first sequence of the Canine Genome was published only a couple of years later in 2005.  Since then, more than 3,500 species have had some of their genomes sequenced, with about 100 species having their genomes sequenced at a ‘reference quality’ meaning that they can be used to see differences among individuals and used to find genes that are responsible for certain diseases or traits.  Having the dog genome sequence has allowed researchers to identify genetic variants that make some dog breeds unique and have provided the ability to find mutations or genetic changes that are responsible for common and rare diseases.

Currently, more than 300 genetic changes in dogs are known that lead to phenotypic differences (the way a dog looks) or lead to inherited diseases.  Knowing these DNA changes or mutations allows laboratories like Paw Print Genetics to develop tests for these so that dogs can be tested to see if they are at-risk for a disease or to ...

Paw Print Genetics Launches Six New, Highly Anticipated Disease Tests

Paw Print Genetics Launches Six New, Highly Anticipated Disease Tests

Paw Print Genetics is excited to announce that it has launched six new, very desired disease tests.  These tests compliment the breed-specific assays that PPG already offers and shows our dedication to providing the largest menu of genetic tests for dogs. The following tests can be ordered as individual tests or may be found as part of one of our breed-specific panels. The breed-specific panels represent the most common and/or severe conditions in your breed and these tests should be considered for any breeding dog.

 

Acral Mutilation Syndrome

Acral Mutilation Syndrome, or AMS, is a neurologic disease affecting Cocker Spaniels, English Cocker Spaniels, English Spring Spaniels, French Spaniels, German Shorthaired Pointers, Old English Sheepdogs and the Pointer. This inherited disease can present around 4 months of age with insensitivity to pain in the lower limbs, repetitive licking and biting of the paws, which eventually can result in self-mutilation. Because affected dogs are unable to feel pain in their feet, they will continue to walk without obvious discomfort. This is an autosomal recessive condition that requires two copies of the mutation to be affected. Screening for carriers will allow breeders to avoid producing puppies with this condition.

Craniomandibular ...

Knowledge is Power in Dog Breeding

Knowledge is Power in Dog Breeding

I was recently contacted by a friend who is looking to buy a new puppy and wanted to make sure that the parents had been tested, and if not, that the prospective puppy had been tested for all of the genetic disease that are found in that breed.  When she asked the breeder if testing had been done, the answer was “no”. When she asked if she could have a sample sent to Paw Print Genetics prior to buying the puppy, the breeder promptly returned her deposit and said that the puppy was no longer available. Although feeling devastated, my friend knew that she was asking the right questions. After all, she is looking for a new family member!

Was the breeder hiding something or just simply afraid of what she might find if she were to do genetic testing?  We won’t know the answer, but I think a lot of what keeps some breeders from testing is fear of the unknown.  What if they find something in their lines?  Will they be stuck with dogs that they can’t sell?  Will others think that they have “bad” dogs?  Actually, doing genetic testing will increase ...

Fireworks and Fido: How to Make It Through the July 4th Holiday

Fireworks and Fido: How to Make It Through the July 4th Holiday

With the Fourth of July just around the corner, you need to be mindful of how your dog reacts to fireworks and loud noises and take this into consideration when planning Independence Day activities.

For some dogs, fireworks are a non-issue. Hunting dogs and others that are used to loud noises, the thunderous booms that accompany the flash and sparkle of pyrotechnics, can be just another night.

However, for others, the stress experienced by dogs during fireworks often triggers the fight-or-flight response. The loud noises usually make the dog want to leave the situation – animal-control services see a 30-percent increase in lost pets during the time aournd the 4th of July holiday. Although you need to take the appropriate steps to keep your pet safe and secure, so that you don't risk losing your pet as many may run away, the stress also increases the possibility of behavior issues, such a biting, even in a dog that has never shown aggression. 

To keep your dog protected, make sure you provide a safe place for it during the holiday season – their crate is an excellent spot that is very secure both physically and psychologically. Always leash your dog before going ...

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!
Photo showing the diversity of coat colors and patterns within the Australian Shepherd.

As a laboratory that works directly with breeders and dog owners, Paw Print Genetics (PPG) is often asked to reassure the customer that our tests accurately determine whether a dog will get a disease.  The customer is actually asking a couple of different questions; one involving the accuracy of the test itself and one regarding the clinical validity of the test. It is important to understand the questions being asked so that the answers make sense.

The first question being asked is: Does the test perform accurately to determine if a dog is normal/clear, a carrier of one copy of the mutation or at risk, having two copies of the mutation. At PPG, our tests are extensively validated and must show 99.9% specificity and sensitivity before being available for ordering. Sensitivity is defined as the proportion of samples with a known mutation that are correctly classified/identified as carrier or at risk by their genotypes. Specificity is defined as the proportion of samples with no known mutation that are correctly classified/identified with the wildtype (normal) genotype for the disease.  This all refers to whether the test result accurately reflects the true genotype of the individual. At ...

Happy New Year, from the CEO of Paw Print Genetics

Happy New Year, from the CEO of Paw Print Genetics

As one year closes and we begin a new, I like to take this time to reflect on the accomplishments of Paw Print Genetics (PPG).  It still amazes me that in such a short time (PPG was founded in 2012), we have become the most trusted laboratory in the industry.  Even if we didn’t do the testing, breeders come to us for advice and help in figuring out the sometimes complex nature of genetic testing results.  Perhaps this is because we are so accessible. PPG employs PhD geneticists and licensed veterinarians who are on-staff and in our offices, available by phone for consultation about your breeding program, a particular dog that needs testing, or a specific result.  Providing genetic counseling and a helpful ear is so important for assisting breeders in navigating the ever-changing world of canine genetics.

As in previous years, PPG had many accomplishments this year. Only a few are highlighted in the following paragraphs. For me, our biggest accomplishment is how fast we continue to grow and the number of new breeders who tried us for the first time this past year.  These new customers are finding us mostly from you – our current ...

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

When Paw Print Genetics (PPG) started our laboratory in 2012, we entered a rather mature market place with other canine genetic testing laboratories well established, some for over 20 years. However, we were shocked and disappointed to learn that there were no quality standards or guidelines in place for these laboratories to follow. As such, each lab was “doing their own thing” and it was very difficult for the breeder or dog owner to discern which laboratory was providing quality genetic testing that was accurate and could be trusted in their breeding program.

The founders of Paw Print Genetics, Lisa G. Shaffer, PhD, FACMG, CEO, Blake C. Ballif, PhD, Director of Operations, and Kyle Sundin, Senior Manager, Development and Laboratory Operations, worked together prior to starting PPG in a human genetics diagnostic laboratory. Human clinical genetics laboratories follow the Standards and Guidelines set forth by the American College of Medical Genetics and Genomics (ACMGG). Because there were no standards in canine testing and our founders were used to working under the guidance of the ACMGG, we set up our laboratory, protocols, policies and procedures as if PPG was a human genetics diagnostic laboratory. As such, every gene mutation has been ...

Paw Print Genetics Offers Tests for the Alaskan Malamute

Paw Print Genetics Offers Tests for the Alaskan Malamute

Genetic testing is important for any breed, for the dog’s individual health and wellbeing as well as for any breeding dogs to ensure healthy puppies in future generations. Paw Print Genetics offers genetic testing for three diseases known to occur in the Alaskan Malamute. Testing for these diseases provides you the information that you need to keep your dog healthy and to select appropriate breeding pairs to avoid producing affected puppies.

The first disease is the Alaskan Malamute Polyneuropathy. This disease is an inherited neuromuscular condition that affects dogs between the ages of 3 and 19 months of age. The first signs of this disease may be a change in their bark, noisy breathing, exercise intolerance and loss of hindlimb coordination. The disease is progressive resulting in muscle wasting, abnormal gait or inability to walk. Testing of this disease is required for CHIC and using results in your breeding program can eliminate producing affected pups.  This disease is inherited in a recessive manner meaning that two copies of the mutation are required to produce the symptoms of polyneuropathy. Dogs that have one copy of the mutation are carriers and are not affected. Breeding carriers to clear (normal) dogs will ...

New Test for Australian Shepherds and Related Breeds - Intestinal Cobalamin Malabsorption

New Test for Australian Shepherds and Related Breeds - Intestinal Cobalamin Malabsorption

Intestinal cobalamin malabsorption, also known as Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome (IGS), and Vitamin B12 Deficiency, is an inherited disease found in the Australian Shepherd and related breeds (Miniature Australian Shepherd, Toy Australian Shepherd, Miniature American Shepherd). The disease is inherited in a recessive fashion and as such, dogs that inherit two copies of the mutation are at risk for the disease. The disease is caused by the inability to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) after weaning, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs require treatment with cobalamin supplementation throughout their life.

Because of the severity of this condition and the fact that it is treatable, this test has been added to the breed-specific panels for Australian Shepherds and related breeds ...

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics is special and I am not just saying that because I am the CEO. There is no other canine genetics laboratory like PPG. Seriously!  Paw Print Genetics is the only laboratory that has implemented human-based testing standards. What does this mean?  It means that PPG tests each mutation region twice with two different methods to ensure the highest accuracy possible. No laboratory can boast 100% accuracy, but PPG achieves 99.9% accuracy each and every day. This means that you can trust your results and use them confidently in your breeding program. In addition, PPG employs both PhD Geneticists and licensed Veterinarians on staff, in our offices, that oversee the testing and report the results. You can also call and speak to them if you have any questions or concerns. Finally, I am the only board certified geneticist in the canine field; I am board certified by the American Board of Medical Genetics. These three aspects - the 'double check testing', having geneticists and veterinarians on staff, and having a board certified geneticist on staff - are equivalent to the requirements found in human genetic testing laboratories.

In addition to our high testing standards and customer access ...