Author archives: Martine Huslig

Inborn Errors of Metabolism: The Invisible Genetic Diseases of Dogs?

Inborn Errors of Metabolism: The Invisible Genetic Diseases of Dogs?

Inborn Errors of Metabolism are a large group of inherited diseases that occur in both humans and dogs.  These disorders are well defined in humans but far less understood and recognized in dogs.  Individually, each of the inborn error of metabolism disorders is rare, but collectively they are an important and relatively common category of diseases in both man and dogs.  In dogs these disorders are rarely considered by veterinarians as the possible cause to be studied when their patient is ill and failing.  We recently told you the story of Rigel, a blue Afghan hound puppy who ultimately succumbed to one of the many known inborn error of metabolism disorders, mucopolysaccharidosis type 1.  We also discussed that if it were not for one astute veterinarian (out of many veterinarians who evaluated Rigel and his similarly affected sister, Trudy) their condition would have gone undiagnosed and this previously unrecognized genetic disorder would have continued to go unidentified in this breed. 

Cases like Rigel and Trudy’s raise an important question; how often are similarly "invisible" biochemical disorders occurring in dogs and going unrecognized and undiagnosed? Human and canine genetic research discoveries have illustrated repeatedly that ...

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 ...

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 ...

Before You Buy Your Puppy - Educate Yourself About Your Breeder!

Before You Buy Your Puppy - Educate Yourself About Your Breeder!

As discussed in my last blog, before buying a puppy, there are many things that the careful and wise buyer wants to educate themselves about to ensure the best experience possible.  Once you have figured out which breed(s) suits/interests you and have educated yourself about the positives, negatives and potential issues, including health issues, the final step is to find possible breeders of interest and most importantly at long last - your puppy!  Many breeders are doing their due diligence to produce and raise the best puppies possible.   0thers are just giving this lip service, and with all the seemingly "right" answers to questions, it is not always easy to tell the difference.

No one can guarantee a healthy puppy.  Just like human couples that do "everything right" during the  pregnancy will say "we do not care if we have a boy or a girl, as long as the baby is healthy".  Even with the utmost of caution, things can and do go wrong.  Some have perpetuated the notion that a responsible breeder can guarantee a perfect and normal outcome in every way and that anything wrong is the breeder's fault.  Just ...

Before You Buy Your Puppy - Educate Yourself!

Before You Buy Your Puppy - Educate Yourself!

Before buying a puppy, there are many things that the careful and wise buyer wants to educate themselves about in order to have the best experience with what should be many happy years with their dog.  First questions are about yourself and what type of dog will best suit you.  Then it is important to learn about the breed, what are the positive and negative attributes, and what health and genetic issues the breed, or particular family of dogs, may be at risk for.  Finally, it is then important to find a breeder whose goals and investment coincide with yours.

The first thing to consider in purchasing a puppy is what type of dog do you want?  Or better stated, what are the qualities in a dog that will get along well with your personality and activity level.  Do you want a puppy at all?    Do you want to raise a puppy; socialize it, potty train it, teach it commands, and, in general, how to be a model canine citizen?  This involves living through the stages of puddles and landmines, puppy chewing with the potential destruction of some of your favorite items, adolescence ...

Are There Risks for Genetic Disease with Cross-breeding?

Are There Risks for Genetic Disease with Cross-breeding?

Some people will say that there is little or no risk for genetic disease in crossbreeding and no need for genetic testing by virtue of the fact that the dogs are crossbred. I use Progressive Retinal Atrophy as an example to illustrate the potential genetic consequences of such breeding, but the premise and the potential risk for disease holds true for any possible genetic condition that affects dogs.

Progressive Retinal Atrophy (PRA) is an inherited progressive eye disease that affects the part of the eye called the retina.  Light striking special cells of the retina (primarily photoreceptor cells called rods and cones) leads to the creation of the picture that is seen by the brain.  The retina is often compared to the film of a camera.  PRAs can progress from vision impairment, to night blindness or to hesitancy in certain situations and lead ultimately to total blindness.  Total blindness in a PRA affected dog may not be recognized until they are taken to an unfamiliar environment while other dogs may be recognized far earlier due to dilated pupils, an attempt by the eye to let in more light, and eye shine that occurs when the retina ...

Canine neuronal ceroid lipofuscinosis or Batten disease

Canine neuronal ceroid lipofuscinosis or Batten disease

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 ...

"Health Guarantees" when Buying or Selling a Puppy?

"Health Guarantees" when Buying or Selling a Puppy?

In a continuation of our discussion of puppy "health guarantees" the question is: is it feasible to expect breeders to guarantee against all congenital and genetic defects and what should breeders guarantee or promise?  It is a pervasive "wisdom" that "good" breeders will only produce healthy puppies with no genetic problems or congenital defects and a "responsible breeder" certainly would never sell a puppy with a congenital or genetic defect.  This has long been a stated or implied expectation that breeders have placed on themselves and others and a notion that has passed on as conventional wisdom regarding the purchase of a puppy.   As a result, when a problem occurs, it is to be approached with chagrin, shame or denial on the part of the breeder and blame placed on the breeder by others.  But is this expectation reasonable?    Is expecting breeders to recognize the presence of all congenital defects even feasible?

Articles like Empowering international canine inherited disorder management by BJ Wilson and CM Wade published in Mammalian Genome in Feb of 2012and the increasing volume of canine health and genetic research illustrates the reality of genetic risk inherent in dog breeding ...

"Health Guarantees" when Buying a Puppy

"Health Guarantees" when Buying a Puppy

For as long as I can remember, when someone was purchasing a purebred puppy from a pet store (as my family did when I was a kid) or from a breeder, that puppy came with a "health guarantee".  If anything was wrong with the puppy you could return that puppy for a "full refund".  For some, offering the health guarantee is a "get out of jail free card" because of the "catch".  The catch being that the person who purchased the puppy had to return the puppy/dog in order to get their money back.  Of course the vast majority of people will have fallen in love with the puppy by then and will not give them up for any amount of money.

Some people will see that a "health guarantee" is offered and say  "oh-that means this is a reputable seller/breeder".  The presence of a health guarantee certainly does not ensure that the puppy was well bred or that the breeder is ethical.  It partially depends on the "fine print" of the health guarantee.  Nevertheless--a "health guarantee" is a standard practice among dog breeding, selling and purchasing.  People purchasing a ...

Importance of Accuracy When Relying on Canine Genetic Testing

Importance of Accuracy When Relying on Canine Genetic Testing

Everyone at Paw Print GeneticsTM is excited about our grand opening and bringing our clinical genetic testing services to the canine community.  As discussed in the last blog by founder and CEO, Dr. Lisa Shaffer, a great deal of time and care has gone into ensuring the quality and accuracy of our testing.  I cannot stress enough how incredibly important this validation process is and the need for the laboratory to have checks and balances to truly make certain that your canine genetic test results are accurate.

Several years ago, a friend ordered genetic testing to determine if all of the puppies her black male produced would be black or if he would have the potential to produce the other colors found in the breed.  She had several individuals who were interested in using her male but a portion of these were only interested in using him if he could produce more colors in his puppies than only black.  After paying and waiting for the results, she received the news from the laboratory that did the testing that he would only sire black puppies and informed the interested parties of this result.  Several of ...