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NOTES ON MEETING AT PARK HOTEL, YORK
ON SUNDAY MAY 20, 2018 AT 10.30 A.M.
Present: Professor Steve Dean (SD) – in the Chair
Dr Andrew Harbottle (AH)
Dr Eddie Houston (EH)
Professor Jeff Sampson (JS)
Ronnie Irving (RI)
PROGRESS ON SLEM AND FURTHER ACTIONS
It was agreed that the introduction of the DNA Test had been very successful and the take up by breeders was encouraging with over 722 dogs tested up to 28th March. It was noted that of these 620 (85.9%) were clear, 100 (13.9%) were carriers and 2 (0.2%) were affected. 1129 had been recorded as hereditarily clear.
It was confirmed that the breed clubs had all agreed that a request should be made to the KC for the official SLEM Test to become a recommendation for ABS members. This would be considered by the KC Health Group in early June and it was expected that the proposal would be accepted.
The issue of whether it should be recommended that SLEM tests should be carried out only by veterinary surgeons had been raised. The matter was discussed by the Group and it was agreed that this was not at all necessary.
It was agreed that one of the lessons to be learned from the whole issue of the way that SLEM had been dealt with, was that there was a need for emerging conditions to be handled differently in future. For emerging conditions where there appeared to be a material incidence, the creating of ‘open registers’ was discussed. While public recording of conditions might reduce the overall number of cases reported, it was felt that the advantage was that information being publicly available would be of benefit to breeders generally and would encourage open discussion. This, it was felt, would lead to prompter actions to establish the facts about a condition and speed up the possibility of finding solutions.
The Group agreed to employ this approach on some current emerging conditions. It would involve publication, on the BHG Website, of confirmed cases of such dogs, giving the KC registered name of the dog itself, and the names of its parents. It was also agreed that before introducing such a procedure, a protocol would be needed describing the type of diagnosis required as confirmation of the condition. Thereafter owners would be invited to declare dogs with the condition to the Breed Health Coordinator giving satisfactory details of the diagnosis. After that the dog’s name would be added to the register.
It was agreed that, for the moment at least, there was enough advice on SLEM available on the BHG Website but it was felt that periodic reports should be made of the number of dogs tested, split between clears, carriers and affecteds. Similar information should be obtained from the USA and separate information should be produced for those overseas dogs recorded on the BHG Website.
The Group reviewed the notes previously produced after the CECS/PGSD Briefing Meeting held at the Animal Health Trust in February.
It was agreed that we should approach Mark Lowrie to ask what progress had been made in:
- obtaining the relevant RCVS ethical approvals,
- listing of precise requirements for dogs to be used for samples
- recruiting sample dogs.
The Breed Health Group was expecting to be asked to help recruit suitable sample dogs.
It was agreed that if the sensitivity and specificity of the proposed test for Gluten Sensitivity could be finally approved, then it could be usefully used as both a diagnostic tool by veterinary surgeons and as a way of identifying cases.
Full support was given to the genetic research work to be done, but caution was expressed on how likely it was that the work would result in straightforward advice being available to breeders as a result. It was felt that the expectations of supporters of the breed should be moderated accordingly.
To illustrate the point, mention was made of the fact that in coeliac disease in humans, the genetic marker for the condition was present in around 45% of the general population while the incidence of the condition itself was very small in comparison. This meant that the genetic marker was not a good predictive tool for the clinical condition.
It was agreed that a final decision on the funding for phase two of the project should be delayed until the results of the recruitment phase had been established.
Disappointment was expressed on the fact that, so far, only three people had completed the CECS questionnaire on the Breed Health Group Website. This led the Group to ask whether this poor response was indicative of the Questionnaire not having a high enough profile, or of there being fewer cases of the condition than had originally been thought? It was agreed that the breed clubs should be asked to give as much publicity as possible to the Questionnaire and to encourage people to complete it where ever possible.
[Afternote: Subsequent investigation seems to indicate that information on cases of the condition is going directly to AHT and Mark Lowrie and so it may be sensible for the BHG to ask for numerical information from these two sources to get a more accurate picture and to ask them to encourage the owners of cases also to complete the BHG Questionnaire so that overall incidence of the condition can be properly evaluated.]
It was felt that sufficient advice on CECS was currently available on the BHC Website but that this aspect should be kept constantly under review.
REVIEW OF CALL FOR INFORMATION ON OTHER SPECIFIC EMERGING BREED ASSOCIATED CONDITIONS
The Group had called for people whose dogs had the following possible emerging conditions to come forward with further information.
Gall Bladder Mucocoele:
Eight emails had been received reporting the condition in the breed, and the Nottingham Veterinary School was about to embark upon some research work on the issue. It was agreed that this work should be supported.
It was also agreed that the condition should be subject to an Open Register on the BHG Website but that first Steve Dean should write up a protocol for the diagnosis required before dogs’ names can be added to the Register.
Early Onset Cataract:
Three emails had been received giving details of nine dogs largely from international sources in the USA and Scandinavia.
It was agreed that Steve Dean should contact the Chairman of the UK BVA Eye Panel to ask if he/she could ask colleagues overseas, for any further information they might have of the condition in Border Terriers, and then decide what further action should be taken.
Fourteen reports had been received all from dogs aged ten years plus. It seemed from this and from information on a Facebook Page on the condition in the breed, that it was a matter that required further action.
It was agreed that VetCompass should be asked to see if it could ascertain if the condition was more common in Border Terriers than in other breeds. If significantly greater, it was agreed that further breed specific involvement may be necessary. If not, it was felt that the breed should work within the aegis of other non-breed specific research being carried out on the condition.
Irrespective of relative breed prevalence, it was agreed that the condition should be the subject of an Open Register on the BHG Website and that Eddie Houston should write up a protocol for the diagnosis required before dogs’ names can be added to the Register.
Brain Tumours: six reports (nine dogs). Eight aged over ten years and one around six or seven years
Distichiasis: Only one request about possible increased incidence.
Perthes Disease: One report.
It was agreed not to take any further immediate action on these conditions at this stage, but to keep a watching brief to see if further cases emerge.
BREED CONSERVATION PLAN
The meeting with the Kennel Club Health Group to be held in June was discussed and the data provided in advance by the KC was examined and some errors pointed out. These would be corrected at the meeting.
It was agreed that, going into the meeting, the priorities from the point of view of the breed should be as follows:
- SLEM: To follow up and monitor test statistics and results
- CECS: To support the research work being carried out by Mark Lowrie and AHT and to help with recruitment of sample cases.
- OPEN REGISTERS: To initiate a system of open registers on the BHG Website starting with Gall Bladder Mucocoele and Cushings Disease and to give publicity to the scheme.
- OPTIMUM CONTRIBUTION OF SIRES: To investigate with the Kennel Club the possibility of introducing, for Border Terriers, a system to calculate the influence of stud dogs on the genetic population of the breed and to show when sires are approaching a maximum advisable contribution level. The possibility of publication of the results on the KC Mateselect Facility with a red/amber/green indicator given, would be suggested.
BREED HEALTH SURVEY
Disappointment was expressed at the relatively low take up of the BHG Survey Form, which is now available both in hard copy form and on the BHG Website.
The possibility of periodically awarding a lottery prize for those who complete the survey was considered and Steve Dean and Ronnie Irving were asked to investigate this further.
In addition, it was agreed to ask the breed clubs to give more publicity to the survey in their newsletters and year books, on their websites and on their Facebook pages.
AFTERNOON MEETING WITH BREED CLUB REPRESENTATIVES
The meeting was Chaired by RI. It was attended by those listed as present above and:
Anne Heathcote – Yorkshire, Lancashire and Cheshire BTC
Mike Hollingsbee – East Anglia BTC
Chris Wallace – Midland BTC
Eddie Houston represented the Border Terrier Club
Apologies had been received from:
Anne Gregory – Scottish BTC
Christine Horner – Northern BTC
Tony Wrenn – Southern BTC
All of the issues covered at the meeting earlier in the day as above were discussed and reviewed and there was broad support for the conclusions reached and recommendations made.
The following additional issues were discussed.
Reaching the Maximum Audience
It was felt that though the BHG Websitre was being used by club members, it was not well enough known to those who were not members of the various clubs for the breed.
It was agreed that clubs with Facebook pages shouold be asked to publicise the existence of the BHG Website as frequently as possible and to publish the various new postings made to it as and when they become available.
Breed Club representatives were asked to get their Clubs to give particular cloverage to encourage people to complete:
- The Health Survey and
- The CECS questionnaire.
It was agreed that Chris Wallace would endeavour to find out what other information was available on the incidence of CECS. (See afternote under CECS above.)
Steve Dean explained the workings of VetCompass. In summary it is a ‘Big Data’ project drawing clinical reports from around 500 General Veterinary Practices across the UK. This produces a very large amount of information which can be interrogated to establish the prevalence of various illnesses and conditions across the dog population in the UK. The very large amount of data significantly reduces regional and selectional bias in the results. However, the system it not very good at identifying specific diseases and emerging conditions unless they have very good diagnostic information to rely upon. Some examples of the information arising from VetCompass can be found on the KC website in the Canine Genetics and Epidemiology Journal (The Journal can be easily found under the tab for Vets and Researchers and scroll to the bottom of the list – look for papers with Dan O’Neill as the lead author). There is a specific report in this Journal on Border Terriers.
BUYING A BORDER TERRIER
It was suggested that although there was a good deal of specific advice available on health conditions, it might be advantageous for the Health Group to produce a note on ‘Buying a Border Terrier Puppy – The Questions to Consider’.
REPORT OF CECS/PGSD BRIEFING MEETING
FEBRUARY 15TH 2018
A briefing meeting was held at the Animal Health Trust on February 15th 2018, to outline plans for a project aimed at identifying regions of the genome associated with Canine Epileptoid Cramping Syndrome (CECS) / Paroxysmal Gluten Sensitive Dyskinesia (PGSD) in the Border Terrier.
Those invited to attend had included
- Representatives of the group which had raised considerable funds for the Animal Health Trust through social media and a Justgiving Page
- Members of the Border Terrier Breed Health Group
- Health Representatives from the seven UK Border Terrier breed clubs and the Swedish Border Terrier Club.
Presentations were given by Sally Ricketts and Chris Jenkins of the AHT Canine Genetics Group at the Kennel Club Genetics Centre, and Mark Lowrie (RCVS & ECVN) who is a veterinary specialist in neurology.
The plan is to conduct a collaborative project aimed at identifying regions of the genome associated with PGSD by performing a ‘Genome-Wide Association Study’ (GWAS), also known as a genome scan.
To ensure optimal efficacy, the GWAS is planned to use dogs from a tightly defined clinical definition of the disease, including only CECS-affected dogs that are sensitive to gluten as affected examples (cases) , and carefully selected unaffected examples (control samples)
A study previously carried out by Mark Lowrie has linked CECS to gluten sensitivity and Gluten sensitive CECS has now been named ‘paroxysmal gluten sensitive dyskinesia’ (PGSD).
Mention was made of a recent overseas study aimed to identify genetic variants that might contribute to the development of CECS. This had been carried out using DNA samples collected from Border Terriers in Finland, The Netherlands, and Germany. This investigation included a GWAS that tested thousands of markers across the genome, but it had been unable to identify any regions of the DNA associated with the disease. It was thought that this may have been because the dogs included had been from different countries, had included a wide range of clinical features, and had relied on owner-reported signs as opposed to clinical diagnoses. It was thought that this broad definition of cases may have been the reason that the Finnish study had been unable to identify any associated regions of the DNA.
The present proposed study would attempt to eliminate as many of these drawbacks as possible, by carrying out a more focused study including only CECS-affected dogs that are sensitive to gluten as the cases, and carefully selected unaffected dogs as control samples.
The first objective will be to collect cheek swab samples from a minimum of 100 well-defined PGSD cases and between 100 to 200 unaffected controls.
Work is currently going on to provide a clear, yet simple, definition of precisely what dogs will be required as case samples and what as control samples. Collecting a tightly defined sample set will be crucial to giving the best likelihood of successfully identifying regions of the DNA associated with PGSD.
When these definitions have been clearly defined and agreed, the cases and controls for the study will be recruited through the Kennel Club, the Border Terrier breed clubs in the UK; and via an appeal in the veterinary media. For this study, only UK based dogs will be used, all of them descended from current UK lines. A brief questionnaire will be used initially to determine that affected or unaffected dogs are suitable for inclusion in the study and for affected dogs, video footage of a typical episode will be requested to enable as accurate a diagnosis to be carried out on each affected dog to be used. For unaffected cases to be included in the study confirmation will be required that they are not on a gluten-free diet. Owners of affected dogs fulfilling the above criteria will then be asked to have their dogs tested for the currently recommended serological tests for PGSD. The results will be reviewed by Mark Lowrie to confirm that they can be used in the study.
An full application for ethical approval from the Royal College of Veterinary Surgeons for this research will be submitted by Mark Lowrie to enable the serum sampling to be carried out.
The costs for the initial sample recruitment for serological blood tests (affected cases only) is estimated at ~£10K with swab test costs for the unaffected cases estimated at ~£2K. So, Phase 1 to obtain the required samples is estimated at ~£12K.
This will be more than covered by the funds currently held by the AHT and provided by Just Giving and Social Media donations.
Once the samples have been organised, a further ~£36K will be required to carry out the GWAS and another ~£4K to carry out Whole Genome Sequencing of two cases – total ~£40K.
It was hoped that some of this £40K will come from additional Social Media funding, some from the Border Terrier Breed Health Group Fund (contributed by the clubs for Border Terriers and other donors), and some from other sources
The total time to complete the project may be anything up to 3 years.
ARISING FROM QUESTIONS
Arising from questions raised at the briefing the following points were noted:
- It was estimated that roughly 90% of Border Terriers affected by CECS are gluten sensitive and do respond favourably to a gluten free diet.
- The genetics of CECS/PGSD is likely to be complex with multiple genes associated with the disease.
- Therefore, there is no certainty that the planned study will successfully identify regions of the genome associated with PGSD.
- Even with a successful outcome for this phase of the study, the available advice to breeders may not be of a clear black and white nature. It may simply be indicative and give statistical probabilities of what may result from various breeding combinations of dogs
- Great care will have to be taken in the selection of affected case dogs and unaffected control dogs.
The next moves will be:
- Obtaining RCVS final Ethical approval for the serological testing to be carried out by Veterinary Surgeons.
- Production of clear and simple definitions for required sample dogs, to be used to recruit affected cases and unaffected control dogs.
- Sample recruitment over an 18 month period
- Application to Breed Health Group for part funding
- Application to other potential external funders
- Carrying out of the GWAS and then whole genome sequencing.
The AHT was asked to report on progress regularly – say three monthly – even if only to give a brief update of progress on sample recruitment etc.
There was considerable enthusiasm to proceed with the project but with realistic recognition that there were no guarantees of success and that specific clear ‘black and white’ advice for breeders may not inevitably follow even a relatively successful first phase, in fact for a complex genetic disease a simple SLEM like test is extremely unlikely.
It may be that it will be possible to develop a genetic risk score based on a number of genetic regions, with utility similar to the EBVs used for Labrador Retriever hip dysplasia. Importantly, the study could lead to an improved biological understanding of the disease, which may help with the development of possible preventive therapies or treatments.
Present at the Briefing were:
Genetics Sally Ricketts, Chris Jenkins
Neurology Mark Lowrie
BORDER TERRIER COMMUNITY
Michelle Barnett, Jan Gale, Dr Andy Harbottle, Mike Hollingsbee, Ronnie Irving, Janet Lee, Loulou Troupe, Chris Wallace, Tony Wrenn
RI/February 21, 2018
The Kennel Club sent out a press release announcing the Official Recognition of the SLEM gene test. It was written in a standard format developed for the announcement of new officially recognised tests. I am informed that the AHT is expected soon to send the KC the first tranche of SLEM test results for UK Border Terriers (i.e. those registered with the UK Kennel Club) and this is expected to include all of the tests carried out since the launch of the SLEM test.
Thus, no action by the owners of tested dogs is needed to complete this process, whereas the Press Release suggests something slightly different. You are permitted to send test results to the KC yourself if you wish, but this would very likely duplicate the reporting carried out by the AHT. I would recommend that we allow the internal reporting process between the KC and the AHT to complete its first reporting cycle, and suggest owners check the KC data in a few weeks time to ensure their results have been correctly recorded. I will do my best to alert the breed when the test results start to be published by the KC, but you will realise this relies upon third parties providing me with this information in advance.
During this period, the Breed Health Website will continue to record test results sent, along with permission to publish, to me as Breed Health Coordinator to ensure information on SLEM is available to the breed in a timely manner.
Test results will eventually be transmitted to the KC by the AHT on a monthly basis, and thus for the future there will often be some delay between the test result being sent to the owner and publication on the KC database.
Owners who wish to have the results of their Border Terriers entered on the Breed Health Group SLEM Test Results List, should send a copy of the AHT Test Result Certificate and permission for the BHG to publish the result, to our Breed Health Co-ordinator Steve Dean at firstname.lastname@example.org
Please note that the first of the SPS/SLEM Test Results intimated to Steve Dean have now been posted on the official Border Terrier Breed Health Group Website – https:
Please see link below