Whole-genome Sequencing of non-prcd PRA in PWD

The Portuguese Water Dog Foundation will contribute $9,400 for Whole Genome Sequencing (WGS) on 4 different dogs [2 affected, 1 carriers, and 1 homozygous normal]. Samples will be tested at the WGS platform at the University of Bern, Switzerland. Dr. Aguirre’s eye lab is part of a consortium at Bern where they have WGS on 465 different dogs (at this point, none are PWDs). Bern will provide the initial filtering and data analysis, allowing Dr. Aguirre’s team to focus their analysis and to analyze the approximately 498 predicted genes in the interval in an expedited manner.

Although this proposal focuses strictly on non-prcd form of PRA, the results of the WGS studies will be critically important to other diseases of importance to PWD, for example microphthalmia/multiple congenital ocular anomalies (aka “puppy eye syndrome”) and possibly other diseases that rely on Genome Wide Association Studies (GWAS) to identify the genomic region of interest.

Any study using GWAS to map a disease interval will, much sooner than later, need high quality genomic sequence formation for the region. This comes from having access to as many different dogs/breeds as possible as well as having specific sequence information for the breed of interest from unaffected animals that can be used as disease controls. As the sequence information generated from this project will be publicly available, this resource will complement and inform research work being done on microphthalmia/multiple congenital ocular anomalies disorder as well as other diseases.

Research funded by the Portuguese Water Dog Foundation, Inc.


Gustavo Aguirre
School of Veterinary Medicine, University of Pennsylvania
Amount: $9,400

prcd Progressive Retinal Atrophy

Progressive Retinal Atrophy (PRA) is an inherited eye disease that cause blindness in dogs. In Portuguese Water Dogs, it is a form of PRA called prcd or progressive rod-cone degeneration and is inherited through an autosomal recessive gene. Because the disease can be passed on only if both dogs carry the gene, a test that identifies carriers will help breeders make appropriate choices when selecting breeding pairs.

The research approach involves using genes already identified as candidates for causing prcd. A mutation-based DNA test would single out the mutant prcd defect in every affected or carrier individual and would be unequivocally accurate. It is also less costly and easier to perform than the current linkage-based test.


A mutation-based DNA test was developed and you can use blood, cheek swabs or frozen semen (semen would be used in the case of a deceased male and does not have to be submitted frozen, which greatly reduces the cost). For test information, forms, etc. visit Optigen’s website.

Research funded by the Portuguese Water Dog Foundation, Inc.


Gustavo D. Aguirre, VMD, PhD
Gregory M. Acland, BVSc
University of Pennsylvania