Busy day so it’s a toss of the coin…

A big weekend round up or the latest DNA PRA List? It’s tails so the DNA PRA List it is. Even though this has only been going on for an actual month we are aware that there are people who are a bit confused by it all so, if you can, have a look at the Glen of Imaal Terrier Breed Notes in Our Dogs this week. You’ll be able to find it in WH Smiths and it might be worth buying it, to refer back to, rather than just reading it in the shop.

Ballyfoyle Blue Boy-Affected

Beechvalley Golden Boy-Carrier

Beechvalley No Hostage-Clear

Billy Tow von Au Deich-Clear

Briarhill O’Riley-Clear

Clogging Grian Claran Tatler Jack-Clear

Daulton’s Darling Orlaith-Carrier

Daulton’s Emerald Green-Clear

Daulton’s Kelly Green-Carrier

Finnabair Bretzel-Clear

Fire & Ice Fantaghiro-Clear

Fire & Ice Jazz-Clear

Gleann Lassarina-Carrier

Gleann Mrs Marshmellow-Carrier

Gleann Nolaig-Clear

Gleann Ode-Carrier

Hyvänhuomenen Urhea Gleann-Clear

Irish Rovers Lady Bridget Bee-Clear

Jeonty Flown Finnair-Clear

Jeonty Just For Fire & Ice-Carrier

Kilkenny’s Sine Metu-Carrier

Kilkenny’s Travelin’ Man-Clear

Miimoksen Sirius-Carrier

Rosears Ablooming Bud-Carrier

Siossapee’s Hilaris-Carrier

Previous lists appeared on August 31st and August 6th

9 thoughts on “Busy day so it’s a toss of the coin…

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  2. From “Our Dogs” Glen of Imaal Terrier Breed Notes
    (10th September 2010)

    A gene mutation, which causes generalised progressive retinal atrophy (PRA) in the Glen of Imaal Terrier, has recently been identified, and direct DNA testing is now available to breeders and owners. The mutation (deletion) occurs in the ADAM9 gene and causes cone-rod dystrophy (CRD), which is one of a number of canine inherited eye diseases that come under the umbrella term of PRA. The journey has been a long one but, thanks to the research teams at Cornell University (Ithaca, USA) and Rühr University (Bochum, Germany), we need never again breed a Glen of Imaal Terrier that will develop the form of PRA caused by the recently identified mutation in the ADAM9 gene. (N.B. All further references to Glen PRA in these breed notes refer to late onset cone-rod dystrophy and the ADAM9 gene mutation).

    The by-line of the EFG blog is “Keeping Glen of Imaal people up to date” and the past few months has seen one “hot-off-the-press” communication after another, relating to developments with the Cornell and Bochum research projects and publication of the results of DNA-tested Glens. First came the announcement, on 17th June entry, that Dr Acland’s team at Cornell had identified a gene mutation causing PRA in the Glen of Imaal Terrier; and that a direct gene mutation test had been licensed to OptiGen, USA. Then, on 22nd June, came the news that the Bochum team, headed by Professor Epplen, had also identified a gene mutation and developed a genetic test.

    The 12th August blog entry has links to the Cornell and Bochum research papers. The Cornell paper – “An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9” – was received on 9th July 2010; accepted 6th August; and published in the journal ‘Molecular Vision’ on 11 August. The Bochum paper – “Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene” – was received on 15th July 2010; revised 26th July; accepted 26th July 2010; and the full text article became available online on 4th August; it is also to be published in the bi-monthly journal ‘Molecular and Cellular Probes’.

    The first 14 UK DNA test results from Bochum, and some of the first US DNA results from OptiGen, were published on the EFG blog on 6th August. Val Harley, GOITA’s Vice Chair, has written on the GOITA Glen Forums (under Health – Optigen DNA testing sessions), “With permission of the owners results will be posted on the web site.” Val also reported that 10 Glens were being tested at an OptiGen 20/20 session at Malvern on 18th July; 1 at Durham on 24th July; and a further 10 at Leicester on 30th July. The GOITA website address is: http://www.goita.co.uk. Another 10 DNA results of UK Glens have been published on the EFG blog on 31st August – 7 OptiGen tested and 3 Bochum tested. Of the 24 published results of UK Glens, there are 17 that are Normal/Clear (+ +) and 7 that are Carrier (+ -) status.

    If you would like your Glen DNA tested for cone-rod dystrophy (Glen PRA), you have a choice – Bochum or OptiGen:

    For the last few years, the EFG has supported the Bochum PRA Research Project and, to date, has raised well over £3,000 in its mission to match the £5,000 grant from the Kennel Club Charitable Trust. If you would like to continue the support of Bochum and have your Glen “Bochum tested”, please contact Mrs Jean Rogers (Jeonty) on 01205 820791 or jean@e-f-g.co.uk for further details.

    The OptiGen website – http://www.optigen.org – lists “OptiGen 20/20” clinics being held around the world, including the UK. The page is regularly updated – look under “Clinic Schedule”. Many of these clinics offer discounts of up to 30% on the $120.00 fee for the Glen DNA test.

    NB. OptiGen prefer blood samples to cheek swabs, because the quality of DNA from blood samples is more consistent than that obtained from cheek swabs. If a cheek swab is submitted for DNA testing and fails to provide enough quality DNA to complete the test, then OptiGen will accept a blood sample and repeat the test free of charge. (A repeat test on cheek swabs will incur the relevant fee for the re-testing). Some OptiGen 20/20 clinics only take cheek swabs, so if you would like your Glen to have bloods taken, please ensure, when enquiring, that the clinic has arrangements to take blood samples.

    Some 20/20 clinics will accept “postal submissions”, which means that you can arrange for your own vet to take a sample and then post it to the clinic organiser, who will arrange shipping to the USA. The relevant paperwork, to accompany samples, can be done online or forms can be downloaded and printed off – look under “Order Test”.

    The “Instructions & Information” page has a helpful link to “Tips for a Successful Online Order”. Please be aware, if you are arranging your own testing rather than going through a 20/20 clinic, that there are strict labelling requirements for shipping samples into the USA. Please see the link “Sample Collection & Shipping” and go to “Shipping” – “International direct to OptiGen”.

    IMPORTANT DATE FOR YOUR DIARY – On Saturday 25th September, Professor Epplen, who headed the Bochum PRA Research Project, is coming to the UK to give a presentation about the Bochum project and the DNA test. The venue is the Supreme Inn Boston, Bicker Bar Roundabout, Swineshead, Boston, PE20 3AN. All are welcome. There is no charge to attend the presentation. There will be an evening meal / soiree after the presentation. For further details and to reserve your place, please contact Mrs Jean Rogers on 01205 820791 or jean@e-f-g.co.uk.

    Let’s now have a reminder about “What is PRA?”!

    PRA is an umbrella term for a number of irreversible, progressive inherited eye diseases, which are characterised by degeneration of the photoreceptor cells (cones and rods) in the retina, and that lead to eventual loss of vision. Cones are responsible for vision in daylight and bright light conditions; and rods are responsible for vision at night and in dim light conditions.

    In the Glen of Imaal Terrier, PRA is known to have an autosomal recessive form of inheritance, which means that a Glen with 2 copies of the disease gene (one from each parent) will, generally, go on to develop PRA. A Glen with a single disease gene and one normal gene is termed a carrier and will not develop PRA. A Glen with two normal genes is normal/clear and will not develop PRA.

    PRA in Glens is of variable age of onset and has variable disease progression. Prior to the DNA tests, the youngest age at which a Glen has been diagnosed with PRA i.e. has evidence of retinal degeneration at eye examination, is around two years. The oldest age at which a Glen has been diagnosed with PRA, following previous “Unaffected” eye test results, is nearly eight years. Some Glens will lose their sight completely and within just a few years, whereas retinal degeneration in others is very slow and they may never completely lose their sight. The DNA test can only test for the presence of the gene mutation; it cannot predict either age of onset or progression of the disease.

    The DNA test determines whether a Glen has two, one or no copies of the ADAM9 gene mutation that causes cone-rod dystrophy (CRD) in the Glen of Imaal Terrier. The results that come back from Bochum / OptiGen are defined as:

    + + / Normal/Clear (2 normal genes). This Glen is Normal/Clear for the mutation and will not develop PRA.

    + – / Carrier (1 normal gene + 1 copy of the gene mutation). This Glen is a Carrier of the mutation but will not develop PRA.

    – – / Affected (This Glen has 2 copies of the gene mutation). This Glen has a high risk of developing PRA during its lifetime.

    For those Glens with 2 copies of the gene mutation:

    The DNA test can only test for the presence of the gene mutation; it cannot predict either age of onset or progression of the disease.
    Annual ophthalmoscopic (eye) examination will provide clinical evidence of onset of retinal degeneration and progression of the disease.
    Age of onset i.e. clinical evidence of retinal degeneration at eye examination, varies in the Glen, from as young as 2 years up to nearly 8 years of age.
    Some Glens will lose their sight completely and within just a few years, whereas retinal degeneration in others is very slow and they may never completely lose their sight.

    The DNA test means that we need never again produce puppies that will go on to develop PRA, as long as we have our Glens DNA tested and as long as we employ SAFE breeding strategies. SAFE matings are those where there is NO RISK of producing puppies that will go on to develop PRA. SAFE matings will be from at least one Glen in a pairing that is Normal/Clear (+ +). SAFE matings are:

    Normal/Clear (+ +) x Normal/Clear (+ +) = All the progeny will be hereditarily Normal/Clear (+ +)

    Normal/Clear (+ +) x Carrier (+ -) = Progeny have a 1:2 (50%) chance of being Normal/Clear (+ +) or a 1:2 (50%) chance of being Carrier (+ -) status.

    Normal/Clear (+ +) x Affected (- -) = All the progeny will be Carrier (+ -) status.

    NONE of the above matings will produce puppies that will go on to develop PRA.

    UNSAFE matings are those which carry a risk of producing puppies that will go on to develop PRA. UNSAFE matings are:

    Carrier (+ -) x Carrier (+ -) = Progeny have a 1:4 (25%) chance of being Affected (- -).

    Carrier (+ -) x Affected (- -) = Progeny have a 1:2 (50%) chance of being Affected (- -).

    Affected (- -) x Affected (- -) = All the progeny will be Affected (- -) status.

    Carrier (+ -) and even Affected (- -) status Glens can now be “safely” mated to a Normal/Clear (+ +) Glen. Some people would question why we should use Carrier (+ -) and Affected (- -) status Glens in a breeding programme. To answer this, we should look at what we want to achieve from our breeding programmes and why we need not / should not automatically rule out Carrier (+ -) and Affected (- -) status Glens. (For this discussion, I am referring only to DNA-tested Glens).

    1. We want to avoid producing puppies that will develop PRA. We can do this by ensuring that any Carrier (+ -) or Affected (- -) status Glen is only used to a DNA-tested Normal/Clear (+ +) Glen.

    2. We want to breed to the standard and our aim is to try to improve the breed from one generation to the next. Better, surely, to use a good example of a Carrier (+ -) or even Affected (- -) status Glen, that has other good quality genes to pass on to the next generation, than to use an inferior quality animal, just because it is Normal/Clear (+ +)?

    3. We do not want to further unnecessarily restrict the genetic diversity of our already small gene pool. There is a possibility that we could eliminate entire lines from our gene pool by excluding Carrier (+ -) or Affected (- -) status Glens from our breeding programmes in the early generations post DNA testing availability; and lose many years of selective breeding for other good breed traits by breeders.

    Within just a few generations, we should be able to eliminate the ADAM9 mutation from our breeding stock; and all Glen puppies will be born hereditarily Clear/Normal (+ +).

    Where do we go from here? There certainly needs to be open discussion amongst Glen breeders and owners; and a suggestion has been made to the GOITA committee that we should have a Special General Meeting to discuss guidelines for eye testing and DNA testing. These are a few points that I should like to see discussed:

    1. Should Glen of Imaal Terrier DNA test results – OptiGen AND Bochum – be published in the Kennel Club’s quarterly Breed Records Supplement?

    2. Should Glen of Imaal Terrier DNA testing become a “Requirement” under the Kennel Club’s Accredited Breeder Scheme?

    3. Should the Kennel Club only register Glen of Imaal Terrier puppies from parents where (at least) one is DNA tested “Normal/Clear” (Optigen) or “+ / +” (Bochum); or (at least) one is known to be hereditarily clear?

    4. What about ophthalmoscopic examination (eye tests)?

  3. Alison
    Lets get the majority of results in and have a period of thought and reflection then lets look at what we can do together. We should think this one through throughly and do it once and get it right this is not any attack on your views. I just think we need to do it right and get it right.

  4. In reply to Alison – and actually with regard to ANY breed which has the good fortune to be offered DNA testing for any inherited condition.

    1) Yes
    2) Yes
    3) Yes
    4) Yes – still necessary – an opthalmic examination will pick up on any other problems (not necessarily inherited) as well.

  5. Why involve the kennel club they have done nothing for the breed and thier “fit for function” is a joke. We can sit down and discuss this and use commonsense we all agree on most things but lets get together and get it right.

  6. I don’t usually engage in these discussions, but feel compelled to do so now, as it’s somewhat personal.
    There are people in GITCA who believe, that we should never use an affected in breeding programs, and by doing this, we can set a time of 2 years before we clear the breed of PRA.
    I agree wholly with Alison; some dogs have a great deal to give to the breed and shouldn’t be tossed just because they have come up affected using the Optigen test.
    The CH dog who is #2 in this country is the pup of two Optigen-tested affected CH parents. Shall we throw him out as well as his parents? Both parents have tested “clear” in all prior ophthalmoscope tests before Optigen/Bochum came along.
    I also agree that there are plenty of clear/carrier animals who are of inferior quality. How do we justify using them? Some are from sloppy and frequent breeders, some from the first litter of a new owner, or an accident, or both. They have been championed at the instigation of the person who sold the dam/sire for showing and breeding. On the other side, the affected might be from a breeder who has a careful program, a lot of knowledge and experience, and who pays attention to pedigrees.
    I also agree with Mr. Holmes that the “fit for function” that some clubs advocate constitutes nothing more than propaganda to support a breed standard drawn to the personal taste of some; that is, if the badgers shown on the e-f-g website are indeed what the dogs were created to fight. We have breeding champions who would make a good lunch for either of those old boys. 🙂
    Lora Clark

  7. I think we need to get all the information together via Optigen/Bochum and then make informed decisions. People will disagree and some will breed 1 way and some another we our waiting for information via Prof Epplen and Optigen and our own and are dogs progeny results before any decisions are made.
    On badger drawing Lora the Glen is designed to grab the prey and draw it to the surface. This must be done without baying taking place .If the glen sounds hes pulled out and is out of the trial. Thats why things some people show people dont understand thats why the glens ears must be small and 1/2 prick and go back. If not they wouldnt have any the prey go for them thats why full prick or drop are a serious fault.The preys ears fold back just the same so its not all in apperance sounding is also an issue. Good working glens had faults a good dog from the 1960s Sputnik had a pink nose not a dudley.
    On fit for function in my opinion no animal with diagnosed PRA should be shown or until i hear differently from Optigen/Bochum be used to breed from and im willing to listen.In Cattle sheep,Pigs you cannot exhibit animals with diagnosed with such problems.Yet the English kc say as long as you cannot see the fault thats ok ! to me that is madness and shows thier more interested in apperance than substance and thats wrong. In my opinion they are a private club that are more interested in thier bank balance rather than the dogs and thats what i think is wrong.

    • Nobody disagrees with you which is why the EFG is hosting the Seminar with Professor Epplen tomorrow. Invitations have gone out and hopefully everybody interested in really discussing the way forward will be there to share their thoughts with the scientists, the senior people in Glen of Imaal Terriers and the Kennel Club…who will all be at the event.

  8. Lora one last thing the Suffolk sheep had scrapie and the Charolais cattle had serious problems calving and 1 line via a bull call SYRUS gave bad births 19.4% and 7.1% died within 24hrs.
    These lines of both breeds that carried the fault were culled and not bred from no matter how good they looked at they did. These breed problems were eliminated by breeding for fitness and purpose rather than apperance. I would rather use the “inferior ” animal which is clear of a problem than bringing in a problem you can always upgrade it takes time but its the right way.
    If dog showing people would look to survival of the fittest and for function and follow farmings lead as ruthless as it is it works and we should follow in my opinion.

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