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JBLC UPDATE June 2016

JBLC UPDATE June 2016 (updated 23.07.17)
JBLC - who are we?
The Joint Breed Liaison Committee is currently made up of two Committee members from each of the six UK Bearded collie Breed Clubs, plus the Breed Health Co-ordinator and an Independent Chair.
We are: BCC: Paula Brooks & Yvonne Fox (also JBLC Secretary), BCCS: Liz Gault & Janet Jemmett, EBCA: Tony Burscough & Dave Morrant, MBCC: Kim Evans & Rachel Salter, NEBCC: Sylvia Newton (also JBLC Treasurer) & Lesley Tomlinson, SCBCC: Sarah Ritchie , Breed Health Co-ordinator: Elizabeth Ayrton BVSc MRCVS & Independent Chair Robin Newhouse.
We meet at least twice a year - unfortunately due to our commitments to our own Club Committee meetings and events, we are unable to meet more frequently, but we are in regular e-mail contact and make use of conference calls
Current Initiatives
Research into Addisons disease.
Towards the end of last year the JBLC were approached by Professor Catchpole of the Royal Veterinary College regarding his project on Addisons disease in dogs.
Addison's disease is an autoimmune condition and once correctly diagnosed, a properly treated dog can live a normal active life. However as the symptoms can be very general, it can be hard to diagnose quickly and anyone who has had a dog, or has known of a dog, suffering from Addison's will know how important this is to ensure the correct treatment.
Dr Catchpole and his team have already identified some of the genetic risk factors involved and wanted to investigate further to see whether these can be used as part of diagnostic blood testing which could potentially identify dogs that have an autoimmune reaction before they develop clinical signs. However £30,000 of funding was required to enable the project to continue. The JBLC agreed to write to the KC Charitable Trust, to whom Prof Catchpole had applied for funding and they agreed to grant him £25,000 with the proviso that that the Bearded Collie Clubs co-ordinate raising the remaining £5000. To this end the JBLC contributed £1000 towards the money required and decided to use the 'Gofundme' site to try and raise the rest.
As the research project is for the benefit of all breeds we wrote to some of the other Breed Clubs who were part of Prof Catchpoles initial study to see if they could also help with funding. We have been delighted with the response and have raised, and indeed exceeded, the amount required. We aim to raise as much as possible by the end of June 2016 and will ensure that all monies raised will be used to further Addisons and AI related research for the benefit of all breeds.
Getting samples from affected dogs will be vital to the success of this research and will be the next step. The RVC Ethics and Welfare committee have just approved the study and sample collection and Sample Submission Forms will be available shortly. Newly diagnosed dogs are best because antibodies are more likely to be present at that time, less so as time passes, but we believe samples from all Addisonian dogs will be collected. Professor Catchpole can't take samples until the start of the new academic term but If there are any newly diagnosed dogs between now and Sept/Oct then the blood can be collected and stored if the vet is willing to keep it until that time. The blood will be collected in EDTA tube or clot in a plain tube. In the meantime any dogs newly diagnosed with Addisons can get in touch with Yvonne Fox at .(JavaScript must be enabled to view this email address) or Jo Tucker (CIMDA) at .(JavaScript must be enabled to view this email address) and she will provide help and information until the submission forms are available.
Breeder regional workshops
The JBLC recognize that many breeders are concerned about various issues regarding the long term future of our breed, whether that be decreased popularity and falling litter numbers or COI's and the use of popular sires. The JBLC feel strongly that the future of our breed is the responsibility of all those who care about the breed and wish to ensure its future. To that end we have decided to set up regional workshops so that breeders past, present and future can come and discuss what problems they see and any suggestions they feel might help. All thoughts, ideas and information from these workshops will be taken forward to develop a strategy for the breed, in conjunction with best available external advice as appropriate.
We feel it is vital to get as many people on board with any proposals that are developed, in order to optimize the outcome and hope that people will try and attend one of these workshops and share their thoughts and suggestions.
For more information:
http://www.beardedcollieclub.co.uk/jblc/docs/breeders_workshops_flyer_2016.pdf
The genome project
Recently the AHT, together with the KC Charitable Trust announced a project to sequence the genome of 50 different dog breeds. The genome is the term given to all of the DNA that is needed to make a person, dog or other animal. The first canine genome sequenced is that of a boxer and is known as the canine reference sequence.
The genome of each dog contains around 2-3 million variants compared to the canine reference sequence, and by sequencing the genomes of healthy dogs the AHT can start to build up a profile of the variants that make up healthy examples of each breed.
Once the AHT have built up a database of neutral variants i.e. those that do not negatively affect the function of the body, across the different breeds they can then sequence the genomes of dogs affected by disease. With the help of computer analysis they can then compare variants in the affected dogs against the database of neutral variants and make a shortlist of variants that are potentially the disease mutation they are trying to find.
The more comprehensive the database of neutral variants is the shorter the list of candidate variants will be and the more quickly they will be able to identify the true disease mutation. This will be true for disease investigations in all breeds, not just those that have been sequenced.
This information will have profound effects on the ability to identify mutations which cause inherited diseases in purebred dogs, and the rate at which new DNA tests can be developed as tools for breeders.
It normally costs £2000 to sequence the genome of a breed but the AHT asked dog breed communities to donate £1,000 towards the project for their breed, which was matched with £1,000 from funding provided by the Kennel Club Charitable Trust. In return, that breed will represent one of the genomes sequenced and will help to make a significant contribution to the future of canine genetics research.
The JBLC felt it very important that Bearded Collies benefited from this opportunity to have their genome sequenced and it soon became apparent that many other breeds felt the same, with many breeds raising the money very quickly. In order not to miss out the JBLC paid the costs up front and were delighted that Beardies were accepted onto the project, which has now been extended to cover 75 different breeds with the KC Charitable Trust donating a further £25,000.
The AHT have contacted Elizabeth Ayrton, our Breed Health Co-ordinator, to provide information about our breed’s main health concerns, together with supporting evidence for the health conditions chosen, such as information from peer reviewed papers, information from Breed Health surveys or substantial anecdotal evidence.
From this information the AHT will decide if it will be more valuable to sequence a dog that is either affected with an inherited disorder of concern to the breed or an older, healthy dog, on a breed by breed basis. The final choice of dogs whose genomes are sequenced will be made by the Animal Health Trust and the identity of all dogs will be kept confidential.
For further information on the project go to:
http://www.aht.org.uk/cms-display/genetics_gdg.html

Collie Eye Anomaly (CEA) - We have now run several 20:20 clinics, over 200 dogs have been tested and there are many more hereditary clears. We wish to thank all those that have had their dogs eye tested, however, some lines are still under-represented in the results and we wish to encourage these owners in particular to test, to enable a meaningful statistical analysis to be undertaken by the AHT on the likely population incidence. We will continue to organize at least one CEA clinic per year.
We do also strongly urge all members to ensure that their dogs undergo a BVA/KC eye test before they are bred from. This can pick up many eye conditions and is the first step in preventing any eye disease from creeping into the breed. The JBLC wrote to the KC to ask that a BVA/KC eye test should be a mandatory requirement for the Assured Breeder Scheme, recommending that eye testing is done before dogs are bred from and when the dog is a veteran, as well as ensuring that the CEA status of all dogs used for breeding is known. The KC have now added the requirement under the ABS scheme that eye testing should be done annually and the recommendation that CEA DNA testing should be done before dogs are bred from. In practice this means that stud dogs should have an annual eye test and bitches should be eye tested in the 12 months prior to breeding.
All of the Clubs are committed to try and offer subsidized eye testing sessions.

Breed Watch - The Kennel Club introduced Breed Watch as an 'early warning system' to identify points of concern for individual breeds. Its primary purpose was to enable anyone involved in the world of dogs, but in particular dog show Judges, to find out about any breed specific conformational issues which may lead to health problems. These conditions are known as a 'point(s) of concern'.
From 2014 all Judges at Championship Shows have been asked to complete a form following their judging engagements giving them the opportunity to report on any visible conditions or exaggerations that they consider to be detrimental to the health and welfare of dogs. The form includes any concerns that have previously been mentioned about the breed, which in the case Bearded Collies was ‘excessively long coat’. The JBLC felt that this was a minor issue regarding the overall health of the breed and would just lead to an increase in trimming. Consequently they wrote to the KC expressing their views on this point and were pleased, when in November 2015 the KC agreed to remove this as a point of concern. Beardies are now a category 1 breed i.e. there are currently no points of concern identified for special attention by judges, other than those routinely covered by the KC standard.

PFK - In the middle of last year the JBLC was contacted by the owner of a Beardie informing us that his dog had been diagnosed with Phosphofructokinase Deficiency (PFK). The dog had presented to a specialist vet with atypical haemolytic anaemia and other symptoms characteristic of PFK and we were led to believe that a DNA test (used for spaniels and whippets) for the condition had been undertaken in the USA and the diagnosis confirmed.
We were aware of other cases of atypical Haemolytic Anaemia in Beardies, which is sometimes, but not always, an auto-immune disease, many proving fatal so agreed to issue a warning to owners and breeders of the possibility of PFK whilst stating that we were intending to confirm the original diagnosis with the help of the AHT.
In the event the dog did not have the genetic abnormality found in spaniels and whippets but the AHT will undertake further analysis of the dogs DNA to determine if there are any other genetic abnormalities that could account for the dogs symptoms as Wachtelhunds also have PFK but a different mutation - one for which there is no DNA test. Doubtless the genome sequencing planned for our breed and others may facilitate this process.
Elbow Dysplasia - As reported at the last AGM some concerns have been expressed about elbow dysplasia in UK Bearded Collies. A few more Beardies have now had their elbows x-rayed - to date 72 with 2 Beardies scoring 1, 2 scoring 2 and 1 scoring 3. It suggests the incidence of elbow dysplasia could be similar to that seen in Sweden and Finland (around 5% - 7%). The JBLC continue to encourage breeders to elbow score, particularly if there is any history of forelimb lameness and to urge any breeders that do get their dogs elbows x-rayed - which can be done when the dog is hip scored - to submit the plates for analysis by the BVA panel.

DNA Databank - The DNA databank is up and running and all of the breed Clubs continue to encourage members to submit cheek swabs to the bank so we can build up a useful DNA data bank for future research. Following last years AGM the BCC have made DNA swab kits available to members at half price at the Club shows to try and encourage members to take part.
Currently the AHT hold samples from 134 Beardies in the databank, so it's a start but we do need a lot more and from a wide a range of pedigrees as possible. The JBLC are considering other ways to increase samples provided such as giving breeders swabs to hand out with their puppy packs.
We also want to remind people to update the AHT on any changes to the health of any Beardies for whom they have submitted a sample.
Health Seminars - In September 2015 the JBLC organised a health education seminar Lorna Kennedy talked about her work on genetic markers for autoimmune diseases in the dog. Jo Tucker gave an informative talk on the diagnosis and treatment of SLO and Addison's disease and Adam Hollis gave an interesting talk on breeders legal responsibilities, in particular with respect to health issues and the validity of breeding contracts
Sadly the seminar could have been better attended but all those that did attend found it extremely informative and gained a lot. Thanks to the hard work put in by the JBLC committee and the generosity of those attending we did make a profit which will be ploughed back into future work
Going forward
As mentioned the Breed faces many challenges going forward, with respect to COI's, our small estimated population size and the small but significant increase in auto-immune diseases. Registrations fell once again from 371 to 346, again a matter for concern.
Another area we will be discussing is a health reporting form. The KC will be sending our Breed Health Co-ordinator such a form each year and she will be required to list the three most pressing health concerns and what action we, as a breed, are taking to raise awareness and address them. Of course we already have an open health reporting register - BeaCon - for which Sarah Ritchie has recently been appointed UK director, and it may be we can work with them to produce something suitable. However any such form is only as good as the data submitted, so we do need all breeders and owners to feedback to us, again we may consider such forms for inclusion in puppy packs.

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CANINE ADDISON's RESEARCH PROJECT PLEASE READ AND DONATE

CANINE ADDISON'S RESEARCH PROJECT
We need £5,000 by the end of June
PLEASE read and donate
https://www.gofundme.com/276qcedk.

Give a Dog a Gnome

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Breed Watch Point of Concern - Excessively Long Coats



23rd November 2015
Dear Secretary
Re: Breed Watch Point of Concern- Excessively Long Coats
Following a letter from the Bearded Collie Club dated 20th July 2015, the Breed Standards and Conformation Sub-Group of the Dog Health Group have considered the request and have agreed that the following point, Excessively Long Coats, will be removed from Breed Watch.
The Bearded Collie will now be listed as Category One not Category Two on Breed Watch.
If you would like further information, please do not hesitate to contact me.
Yours sincerely

Charlotte McNamara
Canine Health Advisor
The Kennel Club
Charlotte.mcnamara@thekennelclub.org.uk
020 7518 1012
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Phosphofructokinase Deficiency in Bearded Collies - UPDATE

Phosphofructokinase Deficiency in Bearded Collies - UPDATE

The Joint Breed Liaison Committee now has an update on the dog initially reported to us as being diagnosed with PFK deficiency. The dog's presenting symptoms and blood tests were consistent with PFK deficiency and so further blood and DNA tests were done by PennGen in the USA. Following these tests, we understand that the owner's vets recommended the results be bought to the attention of the Kennel Club/Breed Club and consequently the diagnosis of PFK deficiency was reported to the JBLC.

As stated previously, we immediately consulted with the Animal Health Trust (AHT) for advice. Their canine genetic research department suggested validating the original results that were reported to us. To this end we sought to work with the owners/ breeders of potentially affected dogs in the line concerned, and contacted them.

We were, however, concerned enough to wish to highlight the possibility of PFK deficiency to Beardie owners whose Beardies, or their relatives, had suffered from regenerative or atypical Haemoltyic Anaemia, as the treatment for PFK deficiency is very different from Auto-Immune disease and the wrong treatment could prove fatal.

We understand now that the breeder of the dog concerned has received further information, from the Specialist Vet who has been treating the dog, to the effect that although the blood tests do indeed show similarity with PFK deficiency, the dog in question does not have the known PFK mutation found in English Springer Spaniels and other breeds. However the specialists are concerned that he could possibly have a new mutation, not currently detectable with the existing tests and further studies would be needed. An enzyme activity test in red blood cells and full DNA sequencing will be required to determine if PFK deficiency can definitely be excluded or confirmed.

We therefore feel that it is extremely important to continue to work with the AHT to fully analyze the DNA of the dog concerned, and some of his relatives. We are undertaking this with the help and full cooperation of the dog's owner, and others. This is in order to ascertain what, if any, mutation can be found (and hopefully eradicated) and to fully investigate what has been reported to us, so that a clear and complete picture can be given to Beardie owners and breeders, something all concerned are anxious to do.

Thankfully the dog in question is currently well but his owner is very sensibly making every effort to avoid subjecting the dog to any of the known trigger stresses in the hopes of averting another crisis. Through the owners vigilance and awareness of the dogs limits he is able to have a good quality of life.

We would like to pass on our thanks to all those owners/breeders concerned who have so far willingly submitted DNA samples for investigation, and as stated before, further updates will be released as and when new information comes to light.
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