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FB 53

17/1/2017

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FB 53. I write today, not yet to impart any new findings but just to keep you aware what is happening and also to make a couple of difficult points
Collecting UK controls for the ARVC preclinical diagnosis trial has not been easy. Either there is no real interest among UK breeders because ARVC is no longer a problem for the show section of the breed, or people have become fed up with me asking for one thing after another, whether blood, swabs, pedigrees or whatever. I thought at one point that I would have to write to Dr Hamilton in Canada and indicate that I could not raise the blood samples that were essential for his trial. But then a couple of noted breeders stepped in to boost the numbers that are being provided by old time friends who are still eager to help. I think we will make it now. When I have all the samples promised I’ll be shipping them off to Canada. I hope to hear the results within weeks or days.
On JKD, Professor Amos is working all hours, and I get frequent updates on how many samples he has extracted and entered on his database, and how many probes he now has working. His enthusiasm helps balance the dismal bits that one meets a bit too often at the non-scientific level.
One such dispiriting bit has been learning that one or two breeders abroad are threatening legal action if owners of JKD cases allow the pedigrees of their sick puppies to be published. Let me make the vital point that publication is to help breeders, all breeders, giving everyone a better chance of avoiding production of more affected pups. It is not an attack on anybody. How dismal can all this get? 
At another somewhat dismaying level, it seems that some people think the various research groups are in competition and that one should support only one and not another. So, here, can I make the point that while the research groups are each trying to achieve the same results – to find the JKD gene – but they are doing so by different means, and these should, if successful, complement and validate each other. And yet other groups may come forward with new ideas, and these too should be supported. Handicapping one or other group by withholding research material will not help overall, and JKD presents challenge enough in its own right. So, please send blood samples, swabs or whatever is wanted to every research group seeking such material.
I think I read somewhere that only a third of efforts to find genes in dogs are successful. There are many technical reasons for this, not enough markers, not in the right place, not enough variability the exact functions of genes not known so one does not know what one is looking for. Add in all the complications with dog breeding, with upset owner and hostile breeders, plus the challenges of others affected, and the whole political scene, and the difficulties beyond the basic genetics are huge. So come on, folks, can we not work together to reduce the difficulties that we actually can control.
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FB 52

2/1/2017

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FB.52 Professor Amos is working furiously on his huge number of JKD samples and has already found something of very great interest for Boxer genetics, although not yet necessarily connected with JKD, but hugely intriguing all the same. However, this note is not about JKD, but rather about ARVC. 
My Canadian cardiologist colleague, Dr Robert Hamilton who was a co-author in the ARVC paper has made a finding that I consider a breakthrough for Boxer breeders. It is what one might call a biochemical test for developing ARVC with the potential of recognising the disease BEFORE clinical symptoms appear. Affected dogs show a single band on an identifying gel while normal dogs, free of the disease, show no sign of this band. This is not a gene test but should serve breeders well as a simple diagnostic test for the disease. The effectiveness in dogs of different ages remains to be checked. 
This question is being addressed right now in a trial but requires breeder help. Further ARVC cases are needed. This note is therefore a call for blood samples from more affected dogs. These are to verify that all accurately diagnosed animals have the identifying band. North American Boxers are the main source of such dogs as the disease remains a major problem in this part of the world. I believe that Kate Meurs is going to contribute to this part of the study. However, blood samples from numbers of normal dogs must also be checked to verify that none have the identifying ARVC band. Here lies a major problem in NA as Holter analyses only identifies a proportion of dogs that are at risk of developing ARVC at some time in their lives. Any collection of Holter-normal dogs from NA is therefore liable to be contaminated. This is where UK breeders can help. ARVC is now rare to non-existent in the show section of the breed in the UK, so that such dogs should NOT have the tell-tale ARVC band on gels.
This note is therefore a first appeal to all Boxer breeders for blood samples to contribute to a large scale trial being conducted by Dr Hamilton. Blood samples are wanted from ARVC affected dogs which will be mostly of NA origin and the hope is that UK Boxer breeders will provide samples from their normal clear stock (and any rare ARVC cases that may be found). Whole blood in EDTA, as collected in previous UK Boxer studies, will serve. So, in NA, anyone with fully-diagnosed ARVC cases and, in the UK, anyone who is having their dog’s blood tested for any purpose should request their vet to collect blood samples for this diagnostic trial too. Breeders with ARVC cases in NA should contact Virginia Zurflieh(vzboxers@gmail.com) for details on what to do. UK samples should be sent to me (contact: bcattanach@steynmere.freeserve.co.uk) to freeze and hold for shipment to Dr Hamilton in Canada. Pedigrees (or registered names in the UK) will be needed. The total findings will be published in a paper for a medical/veterinary diagnostic journal; it is already in the process of being written. I should stress that the paper will NOT include any owner or dog identification. All information will be held in total confidence. 
I hope there will be major NA and UK breeder support for this fantastic opportunity to find a way out of the general ARVC problem, as well as deal with any remaining threads in the UK.
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