PRA Project
How Can My Collies Participate?

Research Organization:
Michigan State University

What is the purpose of the study?
According to information provided by MSU, “The aim of the studies at Michigan State University is to identify the gene defect that causes PRA in Collies. Once the gene defect has been identified, a simple diagnostic test can be developed using a DNA sample. The test can identify carrier, clear, and affected dogs at an early age. Currently, carriers can only be identified by pedigree analysis or through a test mating.”
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Who do I contact?
Dr. Simon Petersen-Jones • Michigan State University
College of Veterinary Medicine
Dept. of Small Animal Clinical Sciences D-208
East Lansing, MI 48824-1314
Phone: (517) 353-3278 • Fax: (517) 355-5164
e-mail: peter315@cvm.msu.edu

What do they need?
DNA samples from confirmed affected Collies and their direct relatives.


What should I send?
Blood samples are preferred, although cheek swabs will be accepted. Also include complete pedigree information, copies of eye exams, and detailed information on vision history.

How Do I Submit a Sample?
Contact Dr. Petersen-Jones to request a test kit that includes a blood tube, submission form, and instructions.

If you’ve been involved in Collies for any length of time, you’ve probably heard of PRA.
According to researchers with Michigan State University, “Progressive Retinal Atrophy (PRA) is an inherited condition that results in blindness. There are several different forms of PRA that differ between breeds of dog. PRA has been a recognized problem in Collies for many years. Some studies have been performed that show PRA is an autosomal recessive defect, meaning that to be affected, an individual dog must receive a defective gene from each parent. Dogs with one copy each of the defective and normal gene are called carriers and do not develop PRA. When mated with another carrier or an affected dog, the carriers can pass on the defective gene to their offspring, which may then develop PRA. The presence of carriers means that eradication of PRA from the breed is difficult.
“Affected dogs are initially night blind, but over time also lose their daytime vision until they are totally blind. A veterinary ophthalmologist can identify the condition once there is a significant loss of retinal tissue. Diagnosis can be made at an earlier age by using a specialized technique called an electroretinogram (ERG).
“At Michigan State University, under funding from the Collie Health Foundation and the Canine Health Foundation of the American Kennel Club, markers in many different genes that could cause diseases such as PRA have been identified. These markers are being screened to identify those that might be involved in PRA in several different breeds of dog, including Collies. Once a linked marker is identified, the genes in that region can be sequenced to look for the gene mutation that is responsible for PRA. Once this mutation is identified and proven to be the cause of PRA, a test can be rapidly developed and will allow this distressing disease to be eradicated from the breed.
“Currently, we have 58 Collie DNA samples, of which 11 are affected dogs. More DNA samples are needed to facilitate finding the gene mutation that causes PRA so that a DNA test can be developed.”