Progressive Retinal Atrophy in the Polish Lowland Sheepdog Research Project
Dear PON owners,
Progressive retinal atrophy (PRA) is a common cause of blindness in purebred dogs. It is an inherited disease and there are several different forms resulting from defects in different genes. Most forms are due to a defect in a single gene and are inherited in an autosomal recessive manner. PRA may become a serious problem in the Polish Lowland Sheepdog. It is our goal is prevent this from happening.
In order to achieve that goal Dr. Simon Petersen-Jones of Michigan State University has agreed to include us in his studies. A number of different genes that could cause PRA have already been identified. If we identify the gene defect that causes the disease in the Polish Lowland Sheepdog, then a DNA test can be developed for the defective gene that can be used to predict which dogs will get the disease and identify dogs that are carriers of the disease (carriers do not get the disease themselves but can pass it on to their offspring).
Such a test will be very valuable in allowing breeders to eradicate PRA from the Polish Lowland Sheepdog.
Previously, blood samples were sent to Optigen, only 5 blood samples were required. Unfortunately, that did not match the markers of the other breeds in their research database. The costs of doing the research to find the gene for PRA in our breed appeared to be cost prohibitive. Thank you to those that participated. We need your help once again!
At this time Dr.Petersen-Jones is requesting blood samples from at least 10 affected dogs. He would also like blood samples from parents (known carriers) and siblings. Additionally, he would like to collect dna (from either blood or cheek swabs) from older PONS who are unaffected with PRA, for comparison to the affected dogs.
Once Dr. Petersen-Jones has received the 10 blood samples he will assist us in applying for a matching grant from the AKC Canine Health Foundation.
This will be a major fund raising effort on our part, as the CHF will only match funds that are donated to this project.
The forms necessary for submission to Michigan State are below, please submit them directly to them as requested. There will be no charge to anyone submitting dna samples. Your cost will be the collection of the blood and shipping it to them, if this a hardship for anyone please contact me and I will assist you in getting the necessary funds. Once a DNA test is developed there will be a small charge for testing.
If anyone needs assistance with pedigrees or has any other questions please feel free to contact me.
Thank you in advance for participating in this research and helping future generations of the Polish Lowland Sheepdog.
Sincerely,
Susan Stekoll
APONC Health Committee Chair
email: aponcwebmaster@gmail.com
720-434-1440
Forms
MICHIGAN STATE UNIVERSITY PROGRESSIVE RETINAL ATROPHY STUDYPRA Info Form
PRA Cheek Swab Information
PRA Blood Submission Form