Coming Soon: The EPI Database for the GSD - Page 3

Hi Lyn:

I don’t know how to “convince” you other than that at this time the current research shows that EPI is an autosomal recessive gene possibly with polygenic inheritance. Blitzen gave you a nice summary in explanation of how these genes show themselves. For recessives to come to the surface they must be combined with another like recessive. That means both parents must be carriers for the disease to show up in a litter. However, even when recessives combine they do not always show. This is one reason that it is extremely difficult for breeders to eradicate negative recessive traits from the gene pool. Please go to http://www.epi4dogs.com/index.htm to learn more. I believe you already have been here so I am also posting it for others who would like to learn more.
Unfortunately, at this time, they have not found the genetic marker or markers. There is no way for a breeder to know that they have a carrier in their breeding program until they have bred a litter with an EPI positive pup. EPI definitely displays many degrees in severity. Some dogs respond to enzyme replacement therapy and others do not. My dog, Cliff von der Baumreihe (may be found on this site at: http://www.pedigreedatabase.com/gsd/pedigree/394829.html ) did not respond and had to be euthanized by the young age of three years old. It was and, I assume, will remain the most devastating time of my life!
In dogs with EPI over time the pancreas atrophies and produces less and less of the necessary digestive enzymes required to assimilate their food. This is why dogs are not normally diagnosed until sometime within their second year of life. Although, some dogs are diagnosed with the disease within the first few months of life and others are not until much later.  
The only thing a breeder can do at this point is to remove a known carrier from their breeding program and participate in current research. They should also NOT keep the secret as far too many do try to do. Those of you that have dogs with EPI please participate in the current research being done at Texas A & M University. Their contact information can be found here: http://www.cvm.tamu.edu/cgr/EPI%20Research.htm . I also encourage you to submit your EPI+ dog’s information to me to enter into the database I am working on. My email is: margaretmbradley@sbcglobal.net . My fax is: 815.485.4330. I also encourage breeders to submit their carrier dog’s information. With a genetic marker and the database breeders will finally have the tools they need to start to try and eliminate this horrendously tragic disease.
Again, I want to thank all of you who have already submitted your EPI+ and carrier dog’s for inclusion to the database and in the available research studies. Your submissions are so appreciated, THANK YOU!
Sincerely,
Margaret Bradley

Another upside to entering carriers names into a database is that information can be used to statistically determine the chance of a GSD's producing EPI in their progeny. For example, if you have a normal dog from a litter out of 2 "normals" where EPI was produced, there is approximately a 50% chance that your dog  will also be a carrier although it shows no symptoms of having that disease.  Approx 25% will be clear, 25% will be symptomatic for EPI.   There's where the DNA identification comes in.  Some day it will be possible to use carriers and to swab the puppies if that is determined to be in the best interests of the breed longterm. You can also assume that both your dog's sire and dam are carriers of the disease if it is a simple recessive.The farther back in a pedigree  you find a carrier, the less chance your dog has of being a carrier itself and if there are no known carriers in 5 generations, the chance drops to somewhere around 6.25%. which is cnsidered negligible.  Conversely, the odds increase when dogs are used that are known to have already produced a condition that is inherited via a simple recessive. In theory, a recessive can be bred out in 5 generations assuming no other carriers are introduced. Simple recessives do not "skip" generations. If you breed a disease/condition/trait that is proven to be the result of a simple recessive, both parents must be carriers and at least 2 of the 4 grandparents as well. The simple recessive gene travels via an unbroken genetic chain dog to dog only expressing itself if it meets up with another dog carrying the same gene recessively.

It is certainly possible to eliminate a simple recessive from the gene pool. However, it takes a lot of dedicated people inputting correct information to attain that goal and that information must never be used in a negative manner to discredit any breeder or bloodline.

Sorry, until there is actual  DNA testing for EPI carriers, I can't see totally eliminating all carriers from the genepool--essentially, a scorched earth, take no prisoners approach.

OTH, I am having my boys DNA tested for DM.

Thank you for your replie Blitzen and I totally agree with what you are saying, however I have bred two litters in the past and did all the testing that was available at the time and know many breeders who would do the same, but I was small time and would have instantly taken my dog off the stud register and not bred from my bitch, but that was 15 years ago, now I take in resuces!

The problem seems to arise when big money comes into it, dogs imported are an investment and need to pay their way with studs and show wins.  Yet these are the very people who are trying to get the Breed Council in the UK to consult with the Kennel club for restrictions on breeding from dogs with genetic or inherited problems,  but EPI seems to be ignored.

Very sad

Estweyn, it would seem to me to be prudent to include EPI when considering major health issues in the breed.

Assuming this is a simple recessive, a carrier could be bred to a clear producing about 50% clears, 50% carriers in that litter. None would be affected.

Blitzen, I am sorry but I am so ignorant regarding genetics, hold my hands up

I have posted on the breed betterment thread regarding including EPI, it has been suggested that if the dogs are subjected to a breed survey then dogs who are not fit enough to undergo the physical side because of problems like HD, elbow probs,EPI, diabetes etc, would automatically be removed from the gene pool.  Thats all well and good but a dog may not develop it till he/she is turned 3 and may have produced pups by then. 

And some dogs are quite fit even with the complaint,  my Josh has lost fitness since he became ill in March and has not regained full fitness, he seems to have aged.