Wednesday, August 2, 2017

A 2017 Update on JKD & ARVC Research

This update was originally published in the 2017 ABC issue of The Boxer Daily. It has been lightly edited. However, before you read about the progress that’s being made to find a solution to JKD (and ARVC), I’d like to direct you to www.boxerjkd.com. This website was created by a group of six Boxer fanciers, including three professional geneticists and several longtime breeders/exhibitors, to provide advice to Boxer breeders on how best to avoid producing Juvenile Kidney Disease – a devastating and inevitably fatal genetic illness – and to offer practical help and advice to the owners of JKD-affected puppies and adults.

Because there is not yet a gene test for JKD, the consensus of the three geneticists in our informal JKD group is that currently the ONLY way to stack the odds of not producing JKD in our favor is to avoid close breeding at all costs, and to eliminate from our breeding programs dogs and bitches that have produced an affected puppy. To that end, there are a number of pedigree programs that will help us avoid breeding two closely related dogs; and boxerjkd.com  has compiled a group of pedigrees from various parts of the world that identify dogs and bitches that have produced offspring that were diagnosed with JKD. (These pedigrees will soon be available on the boxerjkd.com Facebook page, too.)

It seems to be human nature to try to deny that a big health problem exists until it’s become an overwhelming problem. That’s what’s happened in the UK with JKD, and in the US with ARVC (we have JKD here in NA, too, but not yet to the same extent). For many Boxer fanciers, our whole lives revolve around our dogs. If you’ve ever lived with a JKD-affected Boxer, you’ll know that avoiding inbreeding and passing on the stud dogs and brood bitches that have produced offspring diagnosed with JKD is the very least we can do for our wonderful breed until a gene test is available.
VZ

A 2017 Update on JKD & ARVC Research
By Virginia Zurflieh, Scarborough Boxers

The Boxer community is a pretty tight-knit group of people, especially the breeders/owners/exhibitors in the English-speaking part of the world. And these days, most serious breeders have made themselves conversant with basic genetics as it applies to breeding Boxers. Our newfound familiarity with terms like “recessive,” “dominant,” “chromosomes” and “alleles” is due to a large extent to the persistence of British geneticist and Boxer breeder Dr. Bruce Cattanach in searching for a solution to various canine hereditary diseases, of which Boxers suffer more than their fair share. In fact, some genetic diseases and conditions, like ARVC and JKD, are forms of heart and kidney disease that afflict only Boxers.

Although already well-known to breeders in the UK and Europe, Dr Cattanach has most recently become familiar to Americans and Canadians by seeking out researchers working on studies that are aimed at eliminating those two often fatal “Boxer” diseases and persuading Boxer lovers to participate in the research via social media like Facebook.

One of these studies, on both JKD and ARVC, is ongoing at Cambridge University in the UK, where Professor Bill Amos is using new techniques to try to identify markers for JKD and ARVC. He is working with DNA from c.1000 Boxers, 100+ of them from the US and Canada. Prof Amos is still accepting DNA samples from Boxers that have been diagnosed with ARVC or JKD (called JRD or Juvenile Renal Dysplasia in the US). When I contacted him a week ago to ask if he wanted DNA from two recently diagnosed JKD cases of which I had just been made aware, he replied, “Definitely! Every case is desperately sad but worth its weight in gold.” So if you are unfortunate enough to own a puppy diagnosed with JKD/JRD or a Boxer diagnosed with ARVC and you wish to participate in Prof. Amos’ study, just email me at vzboxers@gmail.com and I’ll see that you get supplies and instructions and will send the completed kits to Prof. Amos at Cambridge. As always, the names of dogs and owners are held in strict confidence.

A second study, on ARVC, is being conducted by pediatric cardiologist & researcher 
Dr Robert Hamilton at the Hospital for Sick Children in TorontoDr Cattanach had previously collaborated with Dr Hamilton on an ARVC study that resulted in a co-authored journal paper that provided evidence that striatin, the gene identified by Dr Kate Meurs, was NOT the gene responsible for ARVC. But in the current ARVC study, Dr Hamilton, in Dr Cattanach’s words,”…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 recognizing the disease BEFORE clinical symptoms appear.” “This is not a gene test but should serve breeders well as a simple diagnostic test for the disease.” From Bruce Cattanach’s lips to God’s ears.

Previously, only one American dog in Professor Amos’ study had been diagnosed with JKD, but several were being treated for ARVC. It was relatively simple to put the owners of the ARVC-affected Boxers in touch with Dr Hamilton, whose staff then sent them blood/serum collection and shipping supplies. Dr Hamilton has paused his study while he publishes a paper and seeks funding to expand it, but I’ll continue to post updates on both research projects as I receive them.


At this point, I’d like to express my thanks to the many dedicated Boxer owners who participated with their Boxers in this research. I’ve been coordinating the submission of DNA swabs from the US & Canada to Professor Amos for over a year now, and have seen the dramatic response firsthand, with several owners submitting DNA for 7 or 8 dogs. 
Kudos, US & Canadian Boxer people – you’re the best!

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