Objective A is 100% complete. A draft of the paper describing the clinicopathological findings had been written but we found more data on affected puppies, which were added to the paper. The paper is being submitted for publication within the next 4 weeks. A paper was published about microphthalmia in PWDs recently by a group out of Cornell. However, this paper described only the ocular changes in affected dogs. With our publication, we will show that there can be other abnormalities such as low platelet counts and stunted growth, which makes this a truly syndromic disorder. We have also included pedigree analyses showing the autosomal recessive mode of inheritance. In the meantime, we have decided to put all of the clinical data into the final paper describing the disease-causing variant, making this a large landmark paper. Continue reading “Research Update CHF 02403-MOU MY and EY-3: Microphthalmia and Delayed Growth Syndrome in the Portuguese Water Dog”
Dr. Casal and her fellow researchers at UPENN are pleased to report their data now provides them with a marker test for Puppy Eye Syndrome. UPENN will be able to offer this gene test to breeders the beginning of 2020. Prices will be announced before the end of the year.
Additional details of this exciting development in their work are provided in their end-year 2 research update.
The objective of this study is to A) clinicopathologically and molecularly characterize microphthalmia with delayed growth in the Portuguese Water Dog (PWD) and B) develop a DNA-based test to assist breeders with their breeding programs and avoid producing affected dogs.
Research update from Dr. Casal on the project looking at what is commonly known as PES in our breed.
Research update for Microphthalmia and Delayed Growth Syndrome project at University of Pennsylvania provides news that project is progressing and DNA samples on file will be submitted for a genome wide association study (GWAS). Researchers are particularly interested in DNA (blood) samples from affected puppies and producer parents. They are also very interested in obtaining samples from bitches and dogs that have been bred to known producers but have never produced any affected puppies themselves. Ideally, these (presumptive “clear”) breeding bitches or dogs would have produced over 16 normal puppies and no affected puppies when bred to known producers (carriers).
Research update for Microphthalmia and Delayed Growth Syndrome project at University of Pennsylvania provides news that project is progressing and more DNA samples of affected puppies are needed. Preliminary findings indicate males and females can be affected, although females predominate (about 70%). Preliminary pedigree studies suggest an autosomal recessive inheritance.
PARKER FORD, PA, February 1, 2017 – The Portuguese Water Dog Foundation is pleased to announce we have signed a Memorandum of Understanding (MOU) along with the Portuguese Water Dog Club of America to collaborate with AKC CHF to jointly fund research at the University of Pennsylvania (UPENN) – Section of Medical Genetics, Pediatrics and Reproduction to better characterize the clinical disorder of syndromic microphthalmia and delayed growth seen in the PWD, commonly known in our breed as Puppy Eye Syndrome (PES). Continue reading “Microphthalmia and Delayed Growth Syndrome”