Breed Club and Joint Breed Liaison Committee Releases
2022 BREED HEALTH SURVEY
Thank you to everyone who gave time to complete the Breed Health Survey which is now in its fifth year - you are all doing your bit to enable us to monitor breed health for the future. Please find attached this years results.
Link to 2022 JBLC Health Survey Report
Link to 2019 Breed Health Survey Report
Link to 2018 JBLC Health Survey Report
JBLC UPDATE Autumn 2019
The JBLC has been working hard over the past twelve months on various initiatives:
- Research into Addisons disease – We have recently received some exciting news from Prof Catchpole regarding this research. Previous research by his team found that Bearded Collies, unlike many other breeds, were not auto-antibody positive to the adrenal autoantigen used in the initial project to see if an early diagnostic test could be developed for Addisons. Over the past year Dominika Majorova has done further work on the project and has demonstrated that most affected Bearded Collies have autoantibodies against 21-hydroxylase in their blood. In addition to this research she has also been looking at the genome of Addisonian Bearded Collies and has demonstrated that there is a genetic variant in the AIRE (autoimmune regulator) gene which might go some way to explaining increased susceptibility to Addisons in the breed.
Obviously we are at an early stage but it is exciting news and Prof Catchpole has agreed to come and talk to us about the work and where it might go next, so watch out for more information in due course! We are so grateful to all fundraisers but special mention must go to Sharon Jenkinson for her heroic parachute jump, raising well over a £1000 towards the research.
- Collie Eye Anomaly (CEA) - We are running a CEA clinic in December at the BCC Championship Show using 'Pet Genetics. The KC have recently announced that from January 2022, they will limit the assignment of ‘hereditary clear’ status of registered dogs to two generations, ie the third generation will need to be re-tested. This change will be put in place to safeguard against the impact that dogs with an incorrect ‘hereditary clear’ status could have on health issues within a breed. Therefore it will be important to continue run testing clinics for CEA.
There is also a new project being run in conjunction with the AHT that aims to identify, investigate and eliminate hereditary eye disease in dogs. Samples are required from any dog diagnosed with an inherited eye disease (i.e. affecteds) – these can be diagnosed by any vet not necessarily a BVA panel vet. Details available on the JBLC Facebook page and Club websites.
- DNA Databank – Don’t forget to submit your dogs DNA to the AHT DNA databank. Swabs are available at subsidized costs from Club events or the Breed Health Co-ordinator. If you have submitted samples don’t forget to update the AHT with any changes to their health, or if your dog has died, and let them know the cause of death.
- BeaCon – remember to add your dogs details to BeaCon. We need details from all dogs with or without health conditions. Do update them with any health information you have eg hip scores, eye test results etc. and remember to update annually. BeaCon are looking for help to maintain this resource so if you have IT skills and are interested in finding out more contact Sarah Ritchie.
- Bearded Collie Breed Strategy – We are continuing to monitor the Breed Strategy and have had good feedback about the ‘Buddy system’. The JBLC Facebook Resource page contains much useful information such as the sire useage tables, a leaflet that can be handed out to puppy owners about breed health, information about choosing a sire etc. so don’t forget to look there!
Ø The recommendation remains that dogs should sire no more than two litters a year for current registration levels.
Ø We have recently added a list to the resource page of UK Sperm Banks to aid members who may wish to utilize this facility. If you know of any others that you would be happy to recommend please let Liz Ayrton (BHC) or Yvonne Fox (JBLC Secretary) know.
Ø We are also interested in compiling a list of stud dog handlers – if you are willing to act in this capacity or know of others who do so please contact us with an idea of the area you/they cover. Any payment/costs would be between the handler and user.
Ø We will be writing to judges reminding them of correct Bearded Collie Breed type, character and temperament.
- 2019 Health survey – We had another good response to the health survey – results were consistent with those found the previous year with no new health concerns or increased frequency of health issues coming to the fore. The full summary is on the JBLC Resource Page.
- KC Judges Competency Framework Scheme – The JBLC wrote to the KC expressing the concerns raised about the scheme by their Club members. The KC has acknowledged our concerns and as a result of feedback from the show community are currently reassessing the JCF and how it should work. The first Bearded Collie Breed Assessment day (BAD) following KC protocol was held recently, with the BCC, MBCC, EBCA and NEBCC all working together to host it.
- Embark Testing – We are aware that many members are now using the Embark DNA test to screen for health conditions in their Beardies. This test aims to screen for over 170 genetic health conditions and traits as well as ancestry, from a cheek swab. Whilst we applaud any steps to further knowledge about the health of your dog it is important to remember that there are not currently DNA tests for many conditions eg Addisons and SLO. Different mutations can also be responsible for the same condition in different breeds and there can also be more than one mutation causing a particular health problem in a breed eg PRA. Therefore tests need to be validated for each breed i.e proven that that mutation is responsible for that particular condition in Beardies before they can be truly valid. Embark themselves also state “While Embark can detect over 170 genetic variants associated with increased disease risk, we cannot provide medical diagnoses. You should talk to your vet if you are worried about specific medical conditions in your dog”
- There have been a couple of recent changes to the JBLC committee with Janet Jemmett from BCCS and Tony Burscough from EBCA both retiring. We thank them for their long years of service and wish them well. Fiona Steel now joins Liz Gault as the BCCS representatives and John Ferrigno joins Dave Morrant as the EBCA representatives. Sarah Ritchie will be retiring from SCBCC Committee at the next AGM but with their agreement will continue to represent them on the JBLC.
In order to collect ongoing health data on as many Bearded Collies in the UK as possible we are running an annual health survey which will be open in February each year. This is for all Kennel Club registered Bearded Collies regardless of whether they are show dogs, breeding dogs, activity dogs or pets. Please submit information on ALL your Bearded Collies - we need to know about the healthy dogs as well! This survey is really short and easy to complete (about 2 minutes) and is totally anonymous. It is aimed at getting everyone together to safeguard the future of our breed. We will publish the results for all to access on the clubs web sites later this year. Please click on the link below to take part:
This is also a good time to remind people to contribute to the DNA data bank for future research and also so update health details of any animal you have in the databank at email@example.com
6 APRIL 2017 FROM JBLC
These are the proposals as a result of the evaluation of all the suggestions people made at the Breed Workshops (remember all those post it notes you all wrote). YOU can think about them and form your own opinion. The JBLC is planning a follow up day on Saturday 13th May 2017 at The Canine Academy Tollerton (not Saturday 8th April as previously advertised). The JBLC are delighted to announce that Dr Tom Lewis (KC Geneticist) and Dr Katy Evans (involved in the KC Breed Health and Conservation project) will be attending. This will be an opportunity to discuss proposals and plan for the future of our breed with the experts.
1. Our Aims
1. To maintain and improve the breed’s health, type, temperament and genetic diversity to provide a resilient, fit for function Bearded Collie. [core Breed Health & Sustainability]
2. To provide appropriate breed and health information, including advice and guidance, to meet the needs of everyone committed to the breed and its long-term future. [Breed and Health Information]
3. To promote a culture in the breed community which supports putting the interests of the breed first, and looks to those in positions of influence to encourage this approach. [Breed Community Development]
4. To provide suitable ways of enhancing the knowledge and experience of breeders and stud dog owners [Breeders and Breeding]
5. To bring a wider range of people into the breed (as owners, enthusiasts, breeders, and stud dog owners) and make sure their numbers remain at a level sufficient to give the Bearded Collie a sustainable future. [Breed Promotion and Next Generation]
2. Our Objectives
The Breed strategy covers five areas:
Breed Health and Sustainability (the 'core' Breed Health Plan)
Breed Promotion and Next Generation
Breeders and Breeding
Breed Community Development
Breed Information Resources
The first two objectives tackle immediate short term priorities related to the survival of the breed in this country and will be replaced relatively soon by the longer-term objectives.
Immediate Short-Term Priorities
Breed Promotion and Next Generation plan
1. We will work to increase the number of people owning a Bearded Collie, breeding a litter or offering their dog to be used at stud to a level which removes the short-term risk to the survival of the breed in this country.
Breed Community Development plan
2. We will help breeders evaluate the risk of inherited health conditions by dealing with the barriers to open and honest communication.
These initiatives will be started now but will take longer to produce results:
Core Breed Health & Sustainability plan
3. We will aim to find ways of reducing the incidence of inherited health conditions and take action to improve breed health whilst minimising further loss of genetic diversity resulting from the over-use of popular sires.
4. We will use evidence-based approaches based on health surveys, screening, and reporting to help prioritise and guide health improvements in the breed.
Breed Promotion and Next Generation plan
5. We will continue efforts to bring new people with a wider range of interests into the breed and build strong mentoring relationships with them.
Breeders and Breeding plan
6. We will provide suitable ways of enhancing the knowledge and experience of breeders and stud dog owners, aimed at balancing the art and science of breeding including resourcing the latest published genetic guidance.
Breed Community Development plan
7. We will work to develop a broader approach to breed community activities to encourage owners to get involved and increase the number of people with a stake in the breed’s future.
8. We will ensure judges have information about breed priorities including breed type, character and temperament, which they can apply to their judging decisions.
Breed Information Resources plan
9. We will develop breed and health information resources including advice and guidance to meet the needs of everyone contributing to the long-term future of the breed. [Breed Information Resources plan]
Summaries of the Plans
Our Plans for each area of activity are working documents and will be extended and developed over time.
We have given priority to the issues and concerns most frequently raised by the breed community in the workshops on which this Breed Strategy is based. However, as each Plan progresses we expect to make further use of the many good proposals and ideas for action that were suggested. We will also seek further input as necessary to help achieve our overall Aims.
The actions below take account of this approach and will be discussed at the meeting in May.
We welcome your comments on the Plans.
1. Breed Health & Sustainability
We will recommend that sires do not produce more than two litters per year (including personal use). This figure is based on written communication from Tom Lewis (KC Geneticist) and is based on the numbers of puppies that were born in 2015.
We will also look at ways of encouraging the use of other sires and less widely used lines.
2. Breed Health & Sustainability
We will promote the Kennel Club Mate Select service and provide supporting information to help breeders to make better use of Coefficients of Inbreeding (COIs). We will investigate the provision of a more complete database with the Kennel Club to enhance the information provided by Mate Select.
3. Breed Health & Sustainability/ Breeders and Breeding Plans
We will investigate the processes available for sperm banking.
We will organise a Canine Reproduction Seminar.
4. Breed Promotion and Next Generation
We will develop a 'mentoring/buddy' scheme to support current owners/breeders and the next generation of owners/breeders.
We will work to encourage new owners into the breed.
5. Breed Community Development/ Breeders and Breeding Plans
We will introduce a communication framework with guidance for the exchange of health information between breeders/stud dog owners when planning matings.
6. Breed Information resources
We will aim to provide easy access to educational resources on a dedicated site.
7. Breed Information resources
We will continue to promote BeaCon and will investigate and agree modifications to make it more relevant to the UK Bearded Collie population. We will encourage breeders to register their puppies with a follow up process supported by BeaCon.
We will promote and encourage the ongoing collection of health data.
Give a Dog a Genome (GDG) Project
Latest news: Bearded Collies accepted onto the Project
Posted: 14 February 2016 from the JBLC
An exciting project to map the genome of 50 breeds of dog, the Give a Dog a Genome (GDG) project, has been launched by the Kennel Club Genetics Centre at the Animal Health Trust. The project will radically increase our understanding of the canine genome and enhance our understanding of which changes in DNA sequence affect dog health and which are benign or neutral. It will have profound effects on our ability to identify mutations which cause inherited diseases, and the rate at which new DNA tests can be developed as tools for breeders.
The cost of sequencing each genome is £2,000. The AHT is asking owners, breeders and breed clubs for each breed taking part in the project to contribute £1,000 which will be matched by equivalent funding from the Kennel Club Charitable Trust. Participation in the project is on a first-come, first-served basis, and as we are keen for Beardies to be one of the 50 breeds included in the project to help us in future work into genetic diseases, Elizabeth Ayrton has already registered an interest in the project on behalf of the breed - see the reply below from Cathryn Mellersh.
Full details of the project are available on the GDG project website.
UPDATE - The AHT have now offered our Breed a place on the Project and the JBLC and Breed Clubs are raising funds to ensure the payment is made by early March 2016 so Bearded Collies are included.
There is also an exciting project by Prof Brian Catchpole to develop an effective serology test for autoantibodies for Addison's disease. As well as being used for diagnostic purposes, the test should be able to pick up autoantibodies in dogs before they have developed the disease so could be a screening tool for breeders to use before breeding from their dogs. It would be wonderful to support this project too, but again we need to raise funds.
If anyone has any suggestions - or spare cash - please get in touch with your Breed Club or the JBLC.
On this page are several Press Releases from the Kennel Club relating to Health Issues - more information can be found on the Kennel Club Website particularly on the Mate Select Section
Click this link to go to the Kennel Club Health Section
Click this link to go to the Kennel Club Mate Select Pages
Phosphofructokinase In Bearded Collies.
The Joint Breed Liaison Committee has recently been made aware of a Beardie that has been diagnosed with Phosphofructokinase (PFK) deficiency. This is an inherited condition resulting in an enzyme deficiency hitherto known in English Springer Spaniels, American Cockers, Wachtelhunds (German Spaniels), Whippets and mixed breed dogs. It is not an autoimmune condition.
This disease, does however, share many of the characteristics of regenerative autoimmune haemolytic aneamia and it is possible that Beardies which have been diagnosed and treated for AIHA may in fact have had PFK.
The symptoms of PFK are:
Weakness, depression, lethargy, exercise intolerance, stiffness, anaemia, (seen as paleness of the gums and other membranes), raised body temperature, jaundice and blood in the urine or dark coloured urine.
The disease often occurs following a period of stress such as hard exercise, heat stress, excessive panting or barking. As the disease is very similar to AIHA it may not be tested for by your vet as Beardies are not a breed thought to be predisposed to PFK but the clinical signs are very similar.
Several laboratories including the Animal Health Trust (AHT), offer a genetic test for PFK which is inherited as an autosomal recessive condition (ie 2 carriers are required to produce an affected) and we understand that the Beardie in question was tested by laboratory in America and found to be affected.
We have only just obtained some information regarding the pedigree of the affected dog and we are now working, with the help of the AHT and the relevant breeders and owners, to validate the original DNA test, identify the gene mutation and try and determine the possible inheritance. We do not, however, know if this problem is confined to one line and so we are advising owners that PFK is considered by your vet should your dog be suspected to have regenerative AIHA and that those who have had dogs affected with regenerative AIHA consider testing them or their relatives for PFK status, (or any owners whose dogs exhibit similar signs to those given above and are concerned about their health).
We understand that a discount on testing is offered should 20 or more dogs be tested so if sufficient numbers are interested we can look at organising a clinic.
If you are interested in testing please contact our Breed Health Co-ordinator Elizabeth Ayrton (firstname.lastname@example.org or Tel: 01539 444872 - by phone at weekends only)
We would also ask any owners that do undertake testing share the results - whether positive or negative with Elizabeth.
Fortunately this is a condition which in all probability can be removed from the gene pool with selective breeding, provided we are sensible and utilise the tests available. An established DNA databank would make detection of the lines involved so much easier, so once again we urge members to contribute samples - contact your Club JBLC member or the AHT for swabs.
We will, of course, share any further information as and when we are able.
The following links provide further information but if you have any queries please contact Elizabeth or any member of the Joint Breed Liaison Committee.
Links to further information on PFK:
Link to the AHT PFK test:
For swabs for the DNA databank: (cost £5 per sample)
The Report of the Survey of Bearded Collies carried out at the instigation of the joint Bearded Collie Breed Clubs is now available and warrants a page to itself on this site...
Click here to go the the page
KENNEL CLUB - NEWS RELEASE HIPS AND ELBOWS
The Kennel Club is launching a cutting edge resource as part of its existing Mate Select service, designed to help breeders to reduce the risk of inherited aspects of two complex conditions - hip and elbow dysplasia.
Estimated Breeding Values (EBVs), which are being launched at Crufts, use data from the British Veterinary Association (BVA)/Kennel Club Hip and Elbow schemes to calculate an inheritance ‘risk factor’ for each dog.
EBVs will help reduce the risk of inheriting hip and elbow dysplasia more efficiently than by using individual elbow and hip scores alone. Complex inherited disorders such as hip and elbow dysplasia are influenced by environmental or external factors and EBVs strip these away and estimate only the genetic component of these conditions.
EBVs were developed with scientists at the Animal Health Trust, and the Roslin Institute and Royal (Dick) School of Veterinary Studies at the University of Edinburgh, and will help breeders of pedigree dogs make sensible and informed choices for breeding, to ensure that they have the best possible chance of producing healthy and happy puppies.
Dr Tom Lewis, Animal Health Trust Quantitative Geneticist, said: “We have been working with the Kennel Club for a number of years to develop EBVs. EBVs are a more accurate indicator of genetic predisposition to hip and elbow dysplasia, because in their calculation we use the pedigree to link hip and elbow scores for an individual dog with that of all its relatives thereby making more effective use of the scoring data provided by the BVA/KC schemes. They allow more accurate selection since only the genetics is inherited across generations.”
Caroline Kisko, Kennel Club Secretary, said: “We are extremely proud of the EBVs and that we will be launching such a cutting edge resource at the world’s largest dog event, Crufts, to so many dog lovers.
“The EBVs will run as part of Mate Select, the increasingly popular resource from the Kennel Club to help breeders make the best breeding choices. We hope that anyone breeding pedigree dogs, with EBVs available, will utilise this fantastic addition and continue to do their best to protect and maintain the health of pedigree dogs.
“EBVs will help countless dog breeders make decisions based on robust data to estimate genetic risk, something that will undoubtedly help to protect the future of our pedigree dogs.
“EBVs will make use of data collected through the British Veterinary Association and Kennel Club hip and elbow testing schemes, and the more breeders make use of this scheme, the more accurate the estimation can be to determine the chance of inherited conditions. By continuing to hip and elbow score, for example, breeders are effectively securing the future for countless other dogs by providing the information needed to continue Estimated Breeding Values.”
The development of EBVs on Mate Select is an example of how dog breeders, the veterinary profession, BVA, researchers, and the Kennel Club are working together to improve canine health.
EBVs currently exist for fifteen breeds – Akita, Bernese Mountain Dog, Bearded Collie, Border Collie, English Setter, Flat Coated Retriever, Gordon Setter, German Shepherd Dog, Golden Retriever, Labrador Retriever, Newfoundland, Siberian Husky, Rottweiler, Rhodesian Ridgeback and Tibetan Terrier. As more breeders continue to hip and elbow score their dogs using the BVA/KC schemes, it is hoped that more breeds will be added in the near future.
To find out more about this new resource, and other Kennel Club health initiatives, visit the health area of the main Kennel Club stand at Crufts, held on 6th to 9th March at the NEC in Birmingham, or visitwww.mateselect.org.uk.
KC PRESS RELEASE re ELBOWS
Breeders who grade the elbows of their dogs for elbow dysplasia (ED) are now advised to breed only from those that have elbow scores of zero, in new advice issued by the Kennel Club and the British Veterinary Association.
When the ED scheme was set up in 1998 the breeding advice, following international protocol, was not to breed from dogs of grades two or three but that dogs of grade one were acceptable.
However, as ED is progressive, many of the dogs with grade one elbows who were tested at a young age may go on to develop grade two or three elbows later in life, despite initially being considered suitable for breeding.
The revised British Veterinary Association procedure notes now read:
'It is strongly recommended that breeders wishing to reduce the risk of elbow dysplasia should select their breeding stock (both dogs and bitches) only from animals with an overall grade of 0. Dogs with elbow grades of 2 or 3 have marked osteoarthritis likely to be due to ED, with or without a visible primary lesion. Dogs with elbow grades of 1 show mild or early osteoarthritis which is also likely to be due to ED.'
It is hoped that the revised breeding advice will more quickly reduce the incidence of elbow dysplasia in dogs in those breeds in which it remains a significant problem.
Caroline Kisko, Kennel Club Secretary, said: "In accordance with the revised British Veterinary Association's procedure notes, the Kennel Club would recommend that breeders only use dogs in their breeding with an overall grade of zero. This will help to minimise the risk of elbow dysplasia and fall in line with the Kennel Club's dedication to improving the health of pedigree dogs across the board. We are sure the new guidelines will be welcomed by all the conscientious pedigree dog breeders who work to maintain the best level of breed health for their breeds."
5 March 2014
Midshires Bearded Collie Club wish to point out that content of the letter signed "Elizabeth Kershaw Breed Health Co-Ordinator" which appeared in the 28 February 2014 Edition of Dog World had not been approved by Midshire Bearded Collie Club
FEBRUARY 2014 KC PRESS RELEASE RE CEA
NEW DNA TESTING SCHEME FOR BEARDED COLLIES
Following consultation with the breed clubs, the Kennel Club has approved a new official
DNA testing scheme for Collie Eye Anomaly (CEA/CH) in Bearded Collies.
This test is offered by Optigen (www.optigen.com) and further details can be obtained
directly from them.
Copies of all future test certificate results issued by Optigen will be sent directly to the
Kennel Club, where the test result will be added to the dog’s registration details which will
trigger the publication of the test result in the next available Breed Records Supplement. The
result will appear on any new registration certificate issued for the dog and on the
registration certificates of any future progeny of the dog, and also on the Health Test Results
Finder on the Kennel Club website. Results for dogs already tested can be recorded
although the owner of the dog will need to forward a copy of the DNA certificate themselves.
If the owner includes the original registration certificate for the dog (not a copy) then a new
registration certificate will be issued, with the DNA result on it, free of charge. Please send
any DNA test certificates to Health & Breeder Services, The Kennel Club, 1 – 5 Clarges
Street, Piccadilly, London W1J 8AB or scan and email copies of the certificates to
The Kennel Club continues to work alongside breed clubs and breed health coordinators, in
a collaborative effort to improve the health of pedigree dogs. The Kennel Club is happy to
accommodate a club's request to add a new DNA test to its lists and would normally need a
formal request from the breed's health coordinator or a majority request from the breed
21st February 2014
STATEMENT ON COLLIE EYE ANOMALY IN BEARDED COLLIES FROM THE JOINT BREED LIAISON COMMITTEE - December 2013
In October 2013, Elizabeth Kershaw our Breed Health Co-ordinator published a statement in the Dog Press regarding a Bearded Collie being tested for Collie Eye Anomaly (CEA). The same statement was made available to all Breed Clubs.
The Joint Breed Liaison Committee (JBLC) have been aware for some time that the OptiGen laboratory in the USA have tested a UK KC registered Bearded Collie for CEA and that the result was positive. We have taken steps with the assistance of the Animal Health Trust (AHT) to discover the prevalence of the problem within the breed.
WHAT IS CEA?
Collie Eye Anomaly (CEA) is an inherited condition causing an abnormality at the back of the eye. It is found in a number of breeds of dogs, namely Rough and Smooth Collies, Shetland Sheepdogs, Australian Shepherds, Lancashire Heelers, Nova Scotia Duck Tolling Retrievers and Border Collies, in varying frequencies.
CEA appears to affect different breeds with varying degrees of severity. In the majority of dogs CEA is mild - there is little noticeable affect on the dogs eyesight and they lead a normal life, the condition does not worsen over time. In more severely affected dogs there is a possibility that the retina may become detached. These complications usually occur in the first couple of years of life. There is as yet no evidence that Bearded Collies have been other than mildly affected.
CEA can be diagnosed by examination of the eye by a veterinary ophthalmologist. However it can only reliably be seen in puppies between the ages of six to ten weeks of age. Later development of the eye tends to hide these features. Thus puppies diagnosed with CEA during early screening may appear to be clear on examination as adults. These dogs are still affected and carry the genes for the condition. Even litter screening will not identify carriers of the condition but only affected puppies. To identify carriers and affected adults the only reliable diagnosis is by DNA testing.
The gene responsible for CEA has been identified by geneticists and a genetic test developed which can be used to determine the status of dogs tested i.e. whether they are clear, carriers or affected. This DNA test is offered commercially by OptiGen laboratories in the USA.
An affected dog will carry two copies of the abnormal CEA gene having inherited one from each parent. A dog carrying only one copy of the gene is known as a carrier and is capable of producing affected dogs if bred to another affected dog or another carrier. If bred to a dog diagnosed as clear for CEA, statistically 50% of the litter may be carriers.
Past experience from breeders in the breeds affected by CEA seem to suggest that breeding from mildly affected animals tends to produce mildly affected pups. However, this is not always the case, and matings of mildly affected dogs have been known to produce pups with the more severe form of the condition, at risk of retinal haemorrhage, detachments and possible blindness.
Further information on CEA and its inheritance can be found at www.collieeye.org.uk
CEA AND THE BEARDED COLLIE
Until recently it was thought that Bearded Collies were free from CEA, however in August 2012 the JBLC were made aware of a report that a KC registered Bearded Collie had been referred to OptiGen for a DNA test for CEA and had been confirmed as affected.
The JBLC discussed the matter at their October meeting and learnt that the dog had been referred to OptiGen following abnormalities found at a routine eye testing session. OptiGen had never previously carried out a CEA test on a Bearded Collie and they had analysed the DNA using the test designed for other CEA affected breeds. In order to determine how widespread the gene might be in the UK Bearded Collie population the JBLC decided to approach the Animal Health Trust (AHT) for guidance and they immediately offered their help to discover the prevalence of CEA in the UK KC registered breeding population of Bearded Collies.
They suggested we analyse a sample set of 50 dogs with a wide variety of pedigrees to represent the general UK Breeding population in order to get an accurate overview of the likely frequency of CEA.
One member of the JBLC was tasked with collating pedigrees and dogs were chosen for testing to represent as many diverse bloodlines as possible. It was also decided to include a sample from the original affected dog unbeknown to the AHT. In addition samples from some of its relatives were also submitted.
Although the AHT only charged a nominal fee per dog, funding was required and this was made available from the Clubs and some of the owners of the dogs tested. The kits were sent out by the AHT to the JBLC representative who distributed them accordingly.
Sampling took place over January and February 2013 and samples from 59 dogs were sent to the AHT. Because the mutation for CEA falls under patent owned by OptiGen the AHT were unable to report individual results but they were able to present their general findings.
In May 2013 following their full analysis, the AHT sent us a report on their findings:
· 59 dogs were tested, representing 47 different sires and 57 different dams, of which 46 had unique parentage within the sample studied as deduced from their accompanying pedigrees.
· The study included the known clinically affected dog, its parents, a paternal grand dam, a dog that shares the same paternal grandparents as the affected dog and a dog that shares the same maternal grand sire as the affected dog.
· The AHT results identified a single dog to be affected for the mutation and 5 other dogs were found to be carriers.
· The AHT have advised that assuming this was a random subset of the population and that mating occurs randomly with respect to the mutation, statistics can then be used to determine an approximate percentage of clear, carrier and affected dogs in the population. From this they have estimated that 88.49% of Bearded Collies are clear, 11.16% are carriers and 0.35% are affected, i.e. 3-4 CEA affected dogs per 1000
· Because the affected dog and some of its relatives, were also included in the study, the mutation frequency in reality is likely to be lower than this figure.
WHAT DOES THIS TELL US?
Because of the way that CEA is inherited we know that both of the parents of the affected dog must be carriers and therefore account for 2 of the heterozygous tests found. They in turn must have inherited the gene from one of their parents and so on. Statistically a full sibling to the sire of the affected dog would have a 50:50 chance of being clear or a carrier. Therefore it would seem reasonable to assume that the other heterozygous dogs shared common ancestors with the affected dog.
It would appear on the current evidence of its low frequency within the population that the mutation is likely to be fairly isolated and may only link back to one particular dog. Should new evidence come to light then this would have to be re-evaluated.
WHAT SHOULD WE DO NEXT?
Following the AHT study we have since been informed of the identity of the dog diagnosed as affected by OptiGen which has not been bred from, nor will be. The mother of this dog (who must be a carrier) has no siblings. She only produced one other puppy (female), which has not been bred from. Both these bitches have since been spayed. The affected dog’s parentage has not been verified but his sire has to be a carrier. He is therefore able to pass on the mutation to his offspring and any of his full siblings have a 50:50 chance statistically, of being carriers themselves. Even if carriers are mated to clear dogs there is still a 50:50 chance of producing carrier pups. This is not a problem IF the status of the dogs is known so that two carriers are NOT inadvertently mated together.
Knowing this we are now in a better position to:
1. Attempt to identify any other carrier or affected dogs related to the known cases so far.
2 Promote wider DNA testing and awareness within the breed to identify any other carriers or affected dogs.
3. Inform the KC of the situation for them to take any necessary steps
That the JBLC contact all the owners of immediate relatives to the affected Bearded Collie, explain the situation to them and recommend genetic testing for CEA.
The priorities are:
· Confirm through OptiGen that the parents of the affected dog are carriers and inform all owners of those Bearded Collies sharing the same sire as the affected dog that their dog may be a carrier for CEA and should be tested IF it has been bred from or there is a possibility it will be bred from.
· Owners of dogs that are siblings to the affected dogs sire should be told that their dog may be carriers and tested IF it has been bred from or there is a possibility it will be bred from.
· Those that have pups out of siblings of the affected dogs sire should be told that their dog may be carriers and tested IF it has been bred from or there is a possibility it will be bred from unless these siblings have already been tested and found to be clear.
In addition we also recommend the following actions:
· Although the incidence of CEA is low in the general Bearded Collie population the JBLC strongly recommend eye testing for all Bearded Collies. This may pick up some abnormalities that warrant further testing, however as previously explained a clear result does not necessarily mean that the dog is free from CEA.
· Members with any particular concerns should consider DNA testing through OptiGen – particularly if they know of dogs going blind in their line at perhaps a slightly earlier age than one would expect - and not just put it down to 'old age'!
· The JBLC should inform the KC about the affected dog so that they put Bearded Collies on the CEA affected list of breeds.
· The JBLC should approach the KC to see if funding is available to assist further genetic testing.
HOW TO TEST
CEA testing is offered by OptiGen (www.optigen.com) at a cost of $180 plus the cost of shipping. There are other labs that offer CEA testing but ultimately the samples all get sent to OptiGen as they own the patent for the test. IDEXX laboratories (www.idexx.co.uk) offer CEA testing at £120 plus VAT, price correct till 31st Dec. Blood samples are preferred so your vet’s fee for this will have to be added to your costs. The JBLC are looking at other options to reduce the cost of the test by participating in a 20/20 clinic (for every 20 dogs sampled, 20% discount per test) but this may not take place till February at the earliest.
Any person wishing to discuss this further should contact their Breed Club Joint Breed Liaison (Midshires Bearded Collie Club Members - Kim Evans and Rachel Salter) representative for further advice
Click here to email Midshires rep