All change for gPRA testing.

It is no longer possible to have the DNA test for CRD3 in Glen of Imaal Terriers at Bochum University. Biofocus (also in Germany) have taken it over.

The form for submission is on http://www.biofocus.de/media/files/downloads/125_submission-form-v3-20180301.pdf

Information on how to take a swab http://www.biofocus.de/media/files/downloads/130_buccal-swab-collection-biofocus.pdf and 1 ml EDTA-Blood is sufficient

The price, if a member of a Glen breed club is 40,00 Euro plus 19% VAT, Non-members will have to pay 45,00 Euro plus VAT.

Next Optigen clinic

Val Tiller (Foxbarton Border Collies) is holding her annual September OptiGen 20/20 session on Tuesday 6th September.  All breeds are welcome, and a number of Glen of Imaal Terriers have already been DNA tested for GPRA-crd3 through Val’s very efficient sessions.  You can either attend the session with your Glen, or you can choose postal participation.  Either way, please contact Val as soon as possible to either arrange an appointment or to find out when she needs blood samples sent.  Val provides a very comprehensive and helpful information package for anyone having their dogs DNA tested through her clinic session.

There is a 5% discount for online submission of paperwork, which is pretty straightforward to do but needs to be done in advance of the session, so that you can print off and bring the paperwork with you.  If you are going to do this, please wait until you have spoken to Val, because she can give you her discount code to enter on the paperwork, and which entitles you to a further 25% discount.  Alternatively, you can print out the submission form and fill it in by hand; or Val can complete paperwork for you at a small charge that is donated to Border Collie Rescue.

Remember, your dog must have some form of permanent identification (PI) – microchip or tattoo – to be eligible for testing for GPRA-crd3.  Val offers a microchipping service at her sessions.  If you are doing “postal participation” please remember that OptiGen will only take BLOOD samples for Glen testing; you will need to arrange for your vet to draw blood and then send the sample and paperwork to Val for shipping to the OptiGen lab in America.

There is a very reasonable charge at Val’s sessions to cover drawing blood, labelling and shipping.  Tea and biscuits are provided!  For more information, please contact Val – Tel. 01372 273597 or Email: val.tiller@talk21.com.  The sessions are held at: Foxbarton, 15 Beaconsfield Road, Langley Vale, Epsom, Surrey, KT18 6HA.  Val’s next session will be February 2012.

Prof. Epplen talk tomorrow.

Professor Epplen of Bochum University will be speaking about the search for, and the discovery of, the mutated gene in Glen of Imaal Terriers that causes their particular form of PRA. The event is at Swineshead, Lincolnshire and will run from 3.00pm to 5.00pm. There will be a questions and answers session. If anybody already knows the question the wish to ask could they please forward it to Jean (jean@e-f-g.co.uk) so it can be shown to Professor Epplen beforehand; his English is excellent but it is his second language! Jean can also help with any last minute queries and everybody is invited.

There will be a meal after the talk and again it is open to all. Just to tempt any chocoholics the desert will be a triple layer Nigella style choc cake with rich choc icing, vanilla buttercream and flakes! 

A question…and an answer

It was asked why Optigen offer a free of charge test for Glen of Imaal Terriers already confirmed with PRA? The Optigen reply:-

Thanks for asking this good question.  One clarification before I reply, though,–OptiGen only accepts dogs that have a definitive diagnosis of PRA-affected (not “suspicious”) for Free PRA testing.

There are two basic reasons for offering this program:

  1. Research:  Part of OptiGen’s mission is to further research and the discovery of new mutations that cause PRA.  Collecting samples from definitively-diagnosed PRA-affected pedigreed dogs provides a useful resource for possible future research projects–either internally at OptiGen or in collaboration with academic laboratories.
  2. Assessment of PRA within a breed/detection of other forms of PRA within the breed:  We are always on the lookout for whether “other” mutations are present in a breed for those breeds that we offer DNA tests for PRA. This helps us educate clients better as to the significance of our DNA tests relative to the incidence of other causes of PRA in the breed.  There are a growing number of breeds in which more than form of PRA is occurring.  (Happily, this is not the case, to the best of our knowledge, in the Glen of Imaal.)  Also by accepting the PRA-affected dogs for DNA testing, we are able to better keep our fingers on the pulse of the disease incidence in the breed and see if/how this changes over time.

Including “suspicious” cases in this sample set significantly muddies the water so we do not include non-definitive cases in the Free testing program.

What we require for acceptance into the Free PRA/Research program is the dog’s pedigree (5-6 generations); copies of eye exams and a blood sample.  I usually send people a research form for submission of these samples. Thanks very much for spreading the word on this program.

This one NEEDS noting!

There are quite a few Glen of Imaal Terrier DNA results being sent and, thank you, there will be an updated list shortly but one result stands out. Ch Pajantick Sky Masterson at Malsville is affected by PRA……except he is clear by eye test and he is a Veteran. The last list recorded that Ch Rainbow Springs Gotta Lotta Moxie was the same; genetically affected but clinically clear and she is older than Brando. So here with these two Glens are the reason that all must be DNA tested as years and years of clear eye certificates can lull breeders into a false sense of security.

Peg (Moxie) and Lora (Brando) share their DNA results with everybody when it would have been quite easy to only share their opthalmascope results as they show “good” news. Applause to them for being out there and hopefully everybody will follow their example WHATEVER THE RESULT.

And now…..

Within weeks of each other the two organisations declared a breakthrough in the search for the gene that causes PRA in Glen of Imaal Terriers and today, after the epublication from Bochum the full paper from Optigen. They also conclude an ADAM 9 mutation is the cause so provisionally it seems both have found the same thing. The full link to the Bochum paper is here  for anybody who wishes to check research and analysis. We should have realised that some of our more learned people would want the full monty rather than the abstract!

Everybody has been asking!

Over the past few months the question in the minds of many Glen of Imaal Terrier breeders has been a genetic one. The breed has been so fortunate having two places (Cornell & Bochum) looking in the PRA problem and unbelieveably both declared success but was it the same gene causing the mutation that both had found? The only way to know was when both organisations published; below is the epublication from Bochum.

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.

Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G.

Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801 Bochum, Germany.

Abstract

Generalized progressive retinal atrophy (gPRA) belongs to a group of inherited retinal diseases which are associated with gradual vision loss in various dog breeds, including the Irish Glen of Imaal Terrier (GIT). By genome-wide homozygosity mapping using SNP arrays and fine mapping of candidate regions, we assigned the gPRA candidate locus in this breed to canine chromosome 16. The respective region is syntenic with human chromosome 8 comprising the ADAM metallopeptidase domain 9 (ADAM9) gene. ADAM9 represents a strong candidate gene for canine retinal disease because mutations have previously been shown to cause autosomal recessively inherited human cone-rod dystrophy, a retinal disorder affecting photoreceptor function. Sequence analysis of ADAM9 in affected and carrier GITs revealed a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon. This mutation was absent from 34 other dog breeds. A variable and, at times, very late onset of gPRA was confirmed in GITs by a relatively mild retinal degeneration at an advanced age. Hence, the identification of the genetic defect underlying gPRA in the GIT represents a suitable model for cone-rod dystrophy of humans, with superior potential to elucidate functional consequences of the recently described null mutations in the human ADAM9 gene. Copyright © 2010. Published by Elsevier Ltd.

We NEED a reply on this!!!!

Professor Epplen (Bochum University) has offered to come over to England the weekend of the 25th/26th September to meet with breeders (and all interested parties) to discuss the recent discovery of the gene mutation in Glen of Imaal Terriers which causes Progressive Retinal Atrophy. Would anybody interested in hearing him speak please let us know as soon as possible!