Articles of Interest
Here you will find current, relevant articles that focus on the English Springer Foundation’s funded health research and education projects. Some articles will be scientific; some will offer the perspective of expert Springer enthusiasts from around the world.
DECEMBER 27, 2020
Variabilities in retinal function and structure in a canine model
of cone-rod dystrophy associated with RPGRIP1 support multigenic
etiology Click here for the link to the article /das-2017-variabilities-in-retinal-function-a
At the September, 2020 AKC Delegates Meeting a presentation was made on the Current State of Genetic Testing. Four documents were provide prior to the presentation. Please click on the following links to review the documents.
September 1, 2012
To the English Springer Spaniel Community: A recent paper, and comments regarding it, was recently forwarded to the Foundation’s board. We determined that we should respond to the Springer community about it. The paper concerns research at the University of Pennsylvania relevant to early onset retinal disease in Miniature Long Haired Dachshunds. Though its relevance for English Springers is limited, we want to avoid any possible concern or confusion that may arise. The following statement from the ESSFTA Foundation’s board has been prepared in response to the paper. Those who would like to read the entire paper, and the response from Drs. Mellersh and Sargan, may obtain it by contacting the Foundation’s Vice President for Science and Research, Dr. Larry Schwartz, firstname.lastname@example.org
POSITION STATEMENT FROM THE BOARD OF THE ENGLISH SPRINGER SPANIEL FOUNDATION CONCERNING A RESEARCH PAPER: EXCLUSION OF RPGIP1 INS44 FROM PRIMARY CAUSAL ASSOCIATION WITH EARLY ONSET CONE-ROD DYSTROPHY IN DOGS, DATED AUGUST 2012
THE BOARD OF THE ENGLISH SPRINGER SPANIEL FOUNDATION
A research paper authored by several researchers – representing Optigen and the University of Pennsylvania (Dr. Gustavo Aguirre, Corresponding Author) was sent to the English Springer Spaniel Foundation (“Foundation”). This paper and comments from Dr. Aguirre have raised concern as to the validity and importance of the Cord 1 test for English Springer Spaniels developed by the University of Missouri and extensively utilized by English Springer Spaniel breeders. This report has been reviewed by the Board of the Foundation.
The Board’s conclusion is that the Aguirre paper actually presents facts and findings relevant to early onset disease in Miniature Long Haired Dachshunds, not late onset Cord1 PRA more commonly found in English Springer Spaniels. The Foundation Board finds that there is little factual information relevant to English Springer Spaniels in the University of Pennsylvania paper. Any recommendations for English Springer Spaniels made to breeders or owners based on this paper and its findings therefore, would not appear to pertain to our breed.
A response to the University of Pennsylvania research paper has also been forwarded to us, written by Dr. Cathryn Mellersh (Animal Health Trust) and Dr. David Sargan (University of Cambridge). Dr. Mellersh performed the initial research (1,2) that provided information vital to the discovery of the Cord 1 gene mutation in English Springer Spaniels and the subsequent development of the test by Dr. Gary Johnson of the University of Missouri.
The University of Pennsylvania’s research paper states (3):
” Canine models have been identified for a number of inherited retinal degenerations. In terms of CRD (canine retinal dystrophy), the standard wire-haired dachshund, miniature long-haired dachshund (MLHD), Glen of Imaal terrier and pit bull terrier are the only dog breeds thus far affected, and the genes involved have been identified in all but pit bull terriers.”
The Pennsylvania paper goes on to indicate, clearly, that this research relates to severe early onset CRD.
From Dr. Mellersh and Dr. Sargan’s response (4):
“The recent paper from the Aguirre lab makes many of the same observations that have already been made, regarding genotype-phenotype discordance and abnormal cone function in ins/ins dogs, and these data, although consistent with previous published reports, are not novel findings.”
It is also the conclusion of the Foundation Board and its Council of Scientific Advisors, based on its review of all relevant materials and discussion, that the current English Springer Spaniel Cord1 PRA test is a valid and important tool for breeders.
In the view of the Foundation, breeders would be well advised to continue to utilize the Cord1 test, among many other available tools, such as hip x-rays and annual CERF examinations, to help inform breeding decisions that advance the health and welfare of our breed into the future.
The Board continues to support important research in English Springer Spaniel PRA. We know that breeders are concerned about the age of disease onset, and the meaning and implications of late onset when making breeding decisions. A list of frequently asked questions (about PRA) is being updated, that will be available at the upcoming 2012 National Specialty Show and we continue to actively consider ways to address these questions in ongoing and future phases of PRA research.
We will use all communications means available, including the Foundation’s new web site – www.englishspringerfoundation.org – to provide regular updates on all initiatives relevant to English Springer health and genetic research, including Cord1 PRA.
We thank the Springer community for its steadfast support of the Foundation and English Springer Spaniel health.
1. Miyadera, K., et al., Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis, 2009. 15: p. 2287-305.
2. Busse, C., et al., Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Veterinary Ophthalmology, 2011. 14(3): p. 146-52.
3. Kuznetsova, T et al., Exclusion of RPGRIP1 Ins44 from Primary Causal Association with Early Onset
Cone-Rod Dystrophy in Dogs. IOVS Papers in Press. Published on July 17, 2012 as Manuscript iovs.12-10178
4. Mellersh C, Sargan, D. Comment on Aguirre Paper August 2012 on RPGRIP1