PRA

Spring 2020 PRA Update &

AKC/CHF Progress report

THE ENGLISH SPRINGER FOUNDATION NEEDS YOUR HELP!

PLEASE READ AND ACT TODAY!

Has your dog been DNA tested affected for PRA, been clinically diagnosed with PRA, or have any trouble with vision? Does your dog have DNA stored at the University of Missouri DNA Bank?

We need your help, and it’s very important! The PRA-genetics research team at Penn Vet needs information on the vision status and eye exam results of your dog! 

You can use the online information survey at https://www.vet.upenn.edu/research/research-laboratories/research-laboratory/miyadera-lab—pra-genetics-study .

Since changes in vision or in eye exams related to PRA may not be picked up until old age, it is critical that the research team has the status of vision or eye exams of dogs over time up to the latest exams. You are also encouraged to submit the information for any deceased dog for which the above applies.

If you have any questions about the survey or about submitting DNA for the study, please contact Dr. Miyadera at kmiya@vet.upenn.edu. To review the current report please click on the document below.

THANK YOU FOR YOUR SUPPORT!

An Update on the PRA Research Project:

The English Springer Foundation would like to update Springer owners with the status of our Progressive Retinal Atrophy (PRA) grant awarded in 2019 to Dr. Keiko Miyadera of the University of Pennsylvania. Prior to this study, an insert in the RPGRIP1 gene was linked to blinding retinal disease in English Springer Spaniels. However, since retinal diseases are not often found in the breed, there is a question as to whether the mutation alone causes retinal disease. The study will determine whether additional genetic factors or “modifiers” exist that will better determine the expression of the disease.

Currently, the study continues to focus on collecting carefully ascertained phenotypic information and DNA samples from Springers. At this time, 190 Springers have been enrolled in the study. Of these dogs, 17 are afflicted with PRA and all of these are RGPRIP1 affected. Electroretinography (ERG) has been conducted on 30 Springers to date. Dr. Miyadera will continue to enroll Springers in the study by collecting clinical data and DNA samples, though the pandemic has delayed her efforts. Older affected dogs (3 years and above) as well as more field bred dogs are needed. In addition, they will be starting the DNA chip and whole-genome sequencing experiments to search for the modifier gene/mutation that could be delaying or preventing affected dogs from going blind.

Click Here for AKC/CHF PRA Update 2020

PRA ANNOUNCEMENT JUNE, 2019

The English Springer Spaniel Foundation Board has enthusiastically committed the largest single grant in its history to take PRA research forward on behalf of all English Springer Spaniels. This project is undertaken as a partnership between the Springer Foundation and the AKC Canine Health Foundation. A grant of $108,498 to the Canine Health Foundation will support a new PRA research project for Keiko Miyadera, DVM/Ph.D, at the University of Pennsylvania. Without generous and continuing donations from the English Springer Spaniel community and the collaborative support of the Canine Health Foundation, this grant would not have been possible.
The Foundation’s first level of funded research proved that all English Springers diagnosed clinically with CORD1 PRA have two copies of the CORD1 gene mutation, but not all English Springers (with two copies of the mutation) ever develop impaired vision. This next level of research is an attempt to determine why, and whether there may be other genes or gene modifiers involved that may trigger or suppress the expression of the disease.
Dr. Miyadera’s research will focus on a clinical study, through which she will assess English Springer retinal function and morphology in order to characterize fully the phenotypic (physical expression) spectrum of retinal disease in our breed. Her goal: to establish the phenotype-genotype association with known mutations as well as with new mutations and variants that may be identified in her study.
The ultimate aim of Dr. Miyadera’s research is to develop a set of DNA laboratory tests that will accurately predict the retinal phenotype in English Springers. With these tools, the English Springer community will be able to formulate breeding strategies that enable prevention of retinal disease while reducing the risk for loss of genetic diversity in the breed, addressing the concern raised by Dr. Jerold Bell in his 2018 report to the Foundation.
We believe that Dr. Miyadera’s research may provide better tools to help you in the future, making it possible to predict the potential for an affected dog to become afflicted. This will make thoughtful breeding decisions possible. We know that our current test is accurate, but not sufficient, to give you the answers you need. Our goal is to make sure Springer breeders and owners can use this next generation testing with absolute confidence; your help will make this goal a reality.

Dr. Miyadera is planning to attend a number of English Springer events in order to provide free ophthalmic exams and DNA blood draws. More information will be forthcoming as we reach out to the English Springer community to participate in this important research. We are counting on your participation; thank you.

Further information and the forms may be found at this link   190517_ESS study flyer & form (2)