Health

This is a rare disease in the UK with cases found here since 2012. It is a seasonal disease with the majority of cases being identified between November and May. The general advice is that if your dog develops unexplained skin lesions especially on its legs, although other parts of its body can be affected, please check it out with your vet. It’s important that your dog is treated early as once the kidneys are affected much more intensive treatment is required which may not be successful.

There are a number of websites with pages dedicated to Alabama Rot, the latest being hosted by the vets that have been closely connected with the diagnosis and treatment of the disease since it was first diagnosed in the UK.

https://www.alabama-rot.co.uk/

https://www.thekennelclub.org.uk/health-and-dog-care/health/health-and-care/a-z-of-health-and-care-issues/alabama-rot/

https://www.medivet.co.uk/pet-care/pet-advice/alabama-rot-map/

https://www.rvc.ac.uk/small-animal-vet/news/alabama-rot-in-the-uk-frequently-asked-questions

Update on Bloat July 2022

Professor Ed Hall, our Breed Health Co- ordinator, attended the recent Large and Giant Breed Working Group meeting and one of the speakers was Professor Mark Dunning who gave a presentation on bloat. He is working with The Deerhound Club investigating the factors influencing bloating and the development and outcome of GDV in Deerhounds in the  UK. Below are the minutes concerning his presentation and reproduced with kind permission from the Kennel Club.  

Gastric Dilatation Volvulus (GDV)/ Bloat in Large and Giant Breeds

Prof Dunning gave a presentation to the group regarding current knowledge surrounding GDV.

He began by differentiating bloat and GDV, explaining that GDV, an acute life-threatening disease, results from serious bloat (or GD). The mechanisms of GDV were described, with the stomach turning on to its left side, which results in the oesophagus becoming twisted, preventing any air escaping out of the stomach and escalating the bloating. This causes extreme stretching of the tissues and displacement of the spleen and other organs. The following YouTube video was shared to show the movement:  Patterson Veterinary DIA Client Education Video- Gastric Dilatation-Volvulus (GDV)- Bloat – YouTube

Torsion is incredibly serious as the movement of the stomach causes a stretching of the gastric wall, which prevents blood circulation and oxygen reaching tissues properly, leading to necrosis (cell death), clots, haemorrhage and possible peritonitis/ septicaemia. This leads to a wider obstruction of blood flow across the body of an affected individual, causing an elevated heart rhythm, whole-body inflammation and poorer chance of survival.

There is no simple solution for every dog but there are multiple factors that lead to an outcome, and therefore by understanding the general indicators we can better mediate and treat affected individuals. Risk factors include both intrinsic (within the body) and extrinsic (i.e. environmental) factors. Extrinsic factors include diet, frequency of feeding, type of food, elevated/ low-level feeding, exercise, history of or ongoing chronic gastrointestinal disease, and aerophagia (gulping air). Intrinsic factors are more difficult to change as they are inherent to the individual, these factors include the following: breed, the genetics of the immune system (i.e. whether it takes form in an autoimmune state and begins attacking tissues/ organs within the body, such as within the gut), body size, being deep-chested, gastric volume and position, how laxly the stomach is attached to the abdomen, being able to release gas, familial history of GDV, and temperament and stress.

MD noted that as such GDV is incredibly complex, and cannot be avoided by merely reducing one factor, but by reducing the risk of all the above where possible it is more likely to minimise overall risk.

With respect to research, MD noted there is a trend investigating the gut microbiome (bacteria populations) in affected dogs and underlying genetic components, pointing towards difficult inherent factors. There have been certain differences in gut microbiome found between GDV affected and unaffected dogs in recent years, which are being more easily identified thanks to advancements in technology and analysis. Future research and establishing the association between gastrointestinal flair-ups with GDV could allow for better prophylactic (preventative) treatments. The importance of educating owners in normalising abnormal underlying disease (e.g. ongoing loose stools) was also highlighted as being important due to the established links between such disease and GDV risk. This research indicates an element of immune dysfunction and that further genetic research is necessary to establish whether any genes that maintain the immune system also influence GDV. Several recent papers have begun to identify a number of genes associated with GDV affected dogs.

A limitation of research is that many breeds affected have very numerically small populations, and therefore the disease has not been well described in some of these breeds. With this, much of MD’s research is to work with the breeds and BHCs to access these data, which would otherwise be lost through veterinary practice/ hospital datasets.

MD then gave an overview on outcomes in affected dogs and how mortality rates have changed overtime post-surgery. Certain procedures will alter the likelihood of outcome, with removal of organs (i.e. parts of the stomach/ spleen) further increasing the risk of mortality. Outside of surgery other factors that can impact prognosis include, how quickly a dog is presented to the vets, and whether the dog is showing signs of critical inflammation/ hypotension/ sepsis/ peritonitis/ necrosis and splenic trauma. A further factor identified has been arrhythmia which can lead to an increased risk of mortality. Echocardiogram is needed to identify any dangerous or unstable arrhythmias, particularly any abnormalities where the heart is attempting to contract during its relaxed phase – these arrhythmias will require intervention to prevent fatality. 

Sadly, MD reported that studies have found 50% of dogs presented with GDV are euthanised on arrival, without undergoing any further treatment. There are a number of factors which lead towards this, primarily being cost and/ or being uninsured, and time of day (i.e. cases presented overnight are less likely to survived). Longer surgeries have also been suggested to negatively influence a dog’s likelihood of survival, however MD did note that there will be variability in a surgeon’s/ support team’s skills which makes data difficult to interpret.

Biomarkers available that help predict a dog’s outcome post-surgery include CRP, lactate, cPLI, and procalcitonin which give indication for the amount of inflammation and circulatory distress occurring in the body. Having the ability to measure these will allow the vet team to further assess a dog’s clinical status and gives strategic measurements, which can be taken into account for a dog’s recovery, and give a better prediction of a dog’s likelihood to survive.

MD then walked the group through the process from development of symptoms to presentation at veterinary level. Diagnosis is needed to differentiate between bloating and GDV. Primary clinical signs included non-productive and continuous retching/ vomiting, a progressive abdominal swelling, pain, depression, pacing, and being in shock. MD noted that having even a small inkling of something being wrong is enough to warrant taking a dog to the vet, as it has been proven that early action is key to survival.

Surgeons on presentation will be looking to restore circulation and oxygen to tissues, decompressing the stomach via a stomach tube, determining whether the disease is GD or GDV through imaging (X-ray or CT scan), surgical correction if needed, and further prophylaxis to prevent any future episodes. If lavage via a stomach tube is not effective, letting the air out through a needle in the abdomen is also an effective method. During surgery a surgeon will untwist the stomach, then look at whether any stomach/ spleen tissue needs removing, and then fix the stomach via gastropexy to prevent any further GDV episodes.

Prophylactic gastropexy is becoming more widely used and can be undertaken at the time of neutering as part of a routine procedure. MD did note that incisional gastropexies appear to be less effective than other prophylactic gastropexies, however further work is needed here to tease apart efficacy. MD did go on to note that any form of pexy is going to give a better chance than no prophylaxis. Studies that have monitored dogs that have had appropriate gastropexies have found that none of these have gone on to develop GDV. It was noted that gastropexy should not be undertaken on dogs that have not yet reached maturity.

MD went on to discuss ‘low-hanging fruit’ (e.g. epidemiology) and complex investigations (e.g. genetics) research and management, and that both of these approaches should be made in tandem to manage disease risk. It was noted that as this is not a simple genetic disorder and cannot be selected against to be completely eradicated, but can be taken into account to produce less-predisposed progeny, and continuing to manage extrinsic factors will help to minimise risk.

MD’s research suggest that different breeds have different factors contributing towards disease risk; for example for Deerhounds a recent stressful event has been thought to contribute more heavily to disease, in comparison to Greyhounds where having a history of abdominal surgery contributes further. Identifying such subtle signs and pointers will allow owners to manage their animals with this in mind, and determine whether and how quickly they need to get their dog to the vets. MD’s student is working on analysis for a number of other breeds, where it is hoped that other findings can be established.

The importance of improving communications between owners, breeders and vets was stressed, to allow a more complimentary approach to breed care. As such, MD was keen to work with the BHCs to improve breed-specific understanding. Any breeds that would like to collaborate with MD’s project should email Hannah who will put them in touch with MD’s team. Many breeds have worked on their own surveys which have been very useful in gauging prevalence and identifying initial factors involved in their breed’s risk, however it was mentioned that to allow a consistent and universal approach it would be beneficial to make use of MD’s team and resourcing to further expand on this work.

The floor was then opened up to the breed representatives for any questions or comments.

A query was raised with respect to raised feeding, with MD noting that the picture is mixed, and should be tailored to an individual dog. The most important factor to consider is whether a dog is aerophagic or not therefore owners should observe whether the dog gulps food. To manage this factor owners should aim to slow down rate of feeding and evaluate whether raised/ low-level feeding improves this.

The picture surrounding diet is still complex, but increasing the amount of time that the body takes to digest food is thought to have an impact. The group queried what the current knowledge is in respect to raw versus kibble and risk. MD noted that raw is a difficult factor to pick apart as there are a number of different forms of raw, alike to kibble. At this stage anecdotally dogs that move onto raw have less gastrointestinal disease, however long-term studies are needed to follow dogs overtime to try to identify influence. Underlying intestinal health certainly appears to have an influence on development of GDV, but further work is needed in this area. There are also subtleties in diet, with many dogs fed extra supplements/ bits of raw, kibble etc. so obtaining a study group with set and consistent feeding patterns will be a difficult objective to meet.

“Simple” genetic gene tests have been said to be available, however the efficacy of these have not been published in the peer-reviewed literature, and given that the condition is thought to be a complex disease with multiple interplaying genes, it is unlikely that these tests are, at present, good predictors of disease.

Many of the BHCs reported in their own experience that stress had seemed to be a contributing factor, and the importance of knowing your own animal and improving understanding owner awareness and husbandry.

The group thanked MD for his time and willingness to join the group to share his experience.

_________________________________________________________________________________________

About Bloat

Bloat is a very serious health risk for many dogs, but especially large and giant breeds. Unfortunately the Irish Setter is one of the breeds that is particularly prone, and it is really important that owners are aware of and can recognise the signs so they can contact their vet immediately, day or night, if they think their Setter is blowing.  Getting your Setter to the vet immediately is crucial as time is absolutely vital;  don’t wait to “see what happens” and certainly don’t wait to see if your dog is better in the morning. Bloat is an emergency and all vets are aware of the importance of seeing the dog immediately.

This is a complex disease which is likely to be the result of environmental influences including diet and stress as well as familial susceptability.  Whilst it is not clear whether it is truly inherited, or whether it is a reflection of inherited conformational characteristics, it does mean that the chances of your puppy getting bloat increase if there have been other cases of bloat in the family.

What names is bloat known by?

• Bloat
• Dilatation-Volvulus
• Distension
• Gastric Dilatation
• Gastric Torsion
• Gastric Volvulus
• GDV
• Torsion
• Tympani

These are all names that may be used to describe bloat and are often used interchangeably by owners as they are all stages of Gastric Dilatation-Volvulus (GDV)

What is Bloat?

• Bloat is an unusual accumulation of gas and fluids in the stomach which is not passed normally through belching or flatulence and which causes abnormal swelling.
• The gas that accumulates is largely swallowed air, and does not arise by fermentation in the stomach. The stomach becomes like a drum (tympani).
• A dilatation is where the stomach is distended but is not twisted.
• Eventually the stomach will not only just dilate but also rotate fully on its long axis, causing a torsion/volvulus.

A bloated stomach affects several other organs in the abdomen by putting pressure on them and by affecting the veins which means blood cannot return to the heart as it should.  The spleen may also become twisted.  As the stomach gets bigger it puts pressure on the chest cavity which makes it difficult for the dog to breathe.  If the stomach twists it can totally or partially block the exit to and from the stomach trapping gas, food and water in the stomach.  The stomach’s own blood supply can be comprised leading to death of its wall, rupture and peritonitis.  This combination can quickly lead to death as organ failure, low blood pressure and shock all set in.

Symptoms

Not all dogs get all the symptoms so don’t wait to see them all: 

Phase 1:

The stomach is dilating but may not have twisted.

• Not acting as normal
• Restlessness and anxiety
• May ask to go outside in the middle of the night
• Swelling of the stomach- feels like a drum and may resonate when tapped gently
• Excessive salivation
• Pacing
• Stretching
• Looking at abdomen
• Whining
• Unproductive retching: attempts to vomit but not bringing up food; sometimes a white, frothy saliva is brought up

Phase 2:

The stomach has twisted and shock is starting to set in

• Abdominal pain
• Very restless
• Whining and groaning
• Pacing
• Unable to settle
• Stretching
• Looking at the abdomen
• Abdomen is enlarged and tight
• Difficulty in breathing
• Panting
• May stand with front legs apart and head down
• Trying to vomit more often
• Heart rate increased to 80 – 120 beats per minute
•  Dark red gums

 Phase 3:

Shock has developed and death is imminent

• Shallow breathing
• White or blue gums
• Weak pulse
• Abdomen is very enlarged
• Heart rate over 120 beats per minute
• Collapse

Measures thought to reduce the risk of bloat.

• Feeding two or three smaller meals a day rather than one large one
• Avoiding exercise for a couple of hours before and after feeding
• Limiting the amount of water available immediately before and after eating
• Feeding a good quality diet
• Not feeding a meal that swells in contact with water
• If you are changing diet then doing it gradually over a period of a few days
• Making meal times as stress free as possible
• Making sure your Setter is not underweight
• If you have more than one dog and there is a race to finish eating then it is best to separate them

It used to be thought that feeding your dog from a raised bowl helped to prevent bloat but more recent research shows this is not the case.

Treatment

Urgent veterinary attention should be sought if you think your Setter is bloated.

Emergency treatment will comprise intravenous fluids to compensate for shock and decompression of the stomach by a stomach tube. Surgery to correct any torsion will be performed as soon as the dog is stable.

Breed Health Committee

For several years now the health of purebred dogs has been in the spotlight and the UK Kennel Club requested that each recognised breed appoint a health committee to examine all health issues in their breed. Our committee was set up with health representatives from the eight Irish Setter breed clubs in the United Kingdom and we have an independent chairman Prof. Edward J Hall MA, Vet MB, PhD, Dip ECVIM-CA, MRCVS.

Ed Hall is a professor of Small Animal Internal Medicine at the University of Bristol Veterinary School, where he is Head of the Division of Companion Animal Studies. A Cambridge graduate he undertook clinical and research training in Philadelphia and Liverpool, and is a diplomate of the ECVIM -CA. In his PhD he investigated glutensensitive enteropathy in Irish setters with great assistance from Mrs Jean Quinn and other breeders. This is where his passion for the breed developed.

He is currently a past president of the British Small Animal Veterinary Association and has written over 70 scientific papers and numerous book chapters chapters on canine small intestinal diseases.

He has clinical and research interests in small animal gastroenterology, in particular inflammatory bowel disease, and sees referral patients with GI problems. He gave evidence to the APGAW and Bateson enquiries into pedigree dog breeding. He owns an Irish Setter Fin.

Health topics of interest and importance to Irish Setter breeders and owners are discussed at the meetings and one of the first actions of the group was to organise an online survey for all Irish setters owners to” obtain a snapshot of the state of Irish setter health with respect to known and suspected inherited disease. They also wish to identify those conditions that setter owners believe have the most serious impact on the health and welfare of their dogs, so that future initiatives can be targeted at the most important conditions.” this information has been analysed and presented to the committee and Ed Hall has written a report.

The committee also supported Cathryn Mellersh from the AHT in the genetic investigation of bloat in the Irish Setter and believe it is the first investigation to consider the probable genetic component.

If you have concerns about any aspect of the health of this breed, or your Irish Setter, which you consider should be brought to the attention of the Health Committee or require more information on any health matter, please feel free to contact any breed club health representative or SEISC Health Representative Meg Webb megwebb1@aol.com. You do not need to be a member of any club.

Breed Health Coordinator:

Emeritus Professor Ed Hall, Department of Clinical Veterinary Science, University of Bristol 

Club Health Representatives:

Belfast and District Irish Setter Club: Karen McKelvey 

Irish Setter Association, England: Gemma Gisby

Irish Setter Breeders Club:  Jo-Anne Parsons

Irish Setter Club of Scotland:  Chloe Green and Jenna  Sturrock

Irish Setter Club of Wales: Graham Hart

Midland Irish Setter Society: Stephen Wood

North East of England Irish Setter Club: Sally Mohan 

South of England Irish Setter Club: Meg Webb 

The Kennel Club (KC) and the British Veterinary Association (BVA) run health schemes for hip dysplasia, elbow dysplasia and eye diseases which provide scientifically based expert opinion on these inherited conditions. The KC/BVA screening programmes help conscientious breeders to identify dogs that are clinically free of such diseases so that the best possible choices for breeding programmes may be made. All results are recorded on the Kennel Club database and published in the Kennel Club Breed Records Supplement.

Hip Dysplasia Scheme

It is only necessary to hip score once for each dog in its lifetime but only after it is a year old. An X-ray is required for this which must be submitted by the owner’s vet to a KC/BVA panel which reads it and gives individual scores for each hip. The maximum score for each hip is 53 giving a maximum total of 106 and the lower the score the better the hips.  Each breed has a Breed Mean Score (BMS), this being the average of the total hip scores. The KC encourages breeders to only breed from dogs which have a score lower than the BMS; the BMS for Irish Setters is currently 11.

Details of the Hip dysplasia scheme can be found at:

https://www.bva.co.uk/media/4891/hip-breed-specific-statistics-2022.pdf

Elbow Dysplasia Scheme

It is only necessary to elbow grade once for each dog in its lifetime but only after it is a year old. Irish Setters are not known for elbow problems and this test is rarely carried out by breeders. An X ray is required which must be submitted by the owner’s vet to a KC/BVA panel which reads it and gives individual scores ranging from 0-3.

Eye Scheme

It is recommended that eye examinations should, in general, be conducted annually. Dogs are certified either affected or unaffected for the eye conditions that are known to be inherited in the breed at the time of examination. Re-examination is important as some inherited eye conditions have a later onset. 

DNA Screening Schemes

DNA tests give precise information as to the genetic status of dogs tested with regards to specific diseases. Detailed information as to how these tests work can be found in: DNA Testing and Autosomal Recessive Genes. Irish Setters breeders have 3 DNA tests which are available and each of the three diseases below is described as an autosomal-recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

PRA rcd1 (Progressive Retinal Atrophy) rod cone dysplasia 1

See our page: PRA Blindness for details of rcd1.

CLAD (Canine Leucocyte Adhesion Deficiency)

See our page: Canine Leucocyte Adhesion Deficiency (CLAD) for details

PRA rcd4

See our page: PRA Blindness for details of rcd 4.

Results for each of these tests are published in the Kennel Club Breed Records Supplement and the DNA status of each dog is recorded on the health test results for individual dogs.

https://www.thekennelclub.org.uk/search/health-test-results-finder/

Canine herpesvirus and puppies.

Canine herpesvirus (CHV) is specific to domesticated and wild dogs. As with other herpesviruses, CHV becomes latent and is carried by the affected individual for life, though they may not show any clinical signs. The infection may flare up and become a clinical problem during periods of stress or immunosuppression.

Dogs are infected in one of the following ways:

–       In fetuses, across the dam’s placenta

–       In new born pups through contact with the birth canal

–       During mating

–       Via the respiratory route

CHV is a virus that grows best at a temperature slightly below the normal core temperature of a dog, meaning that it is usually restricted to the nasal passages where the temperature is lower. If a puppy is chilled or has few maternal antibodies, it is more susceptible to widespread infection.

A puppy may acquire protective antibodies against CHV from the mother across the placenta as well as in the colostrum. The bitch will only have antibodies to pass on if she has either been exposed to the virus or if she has been vaccinated recently against it 

Vaccination has not been shown to give lasting immunity; live vaccines might be more effective, but could result in a lifelong carrier status.

If a fetus is exposed while in utero, the effects will depend upon the stage of pregnancy – those infected earlier are unlikely to survive to term, though pups infected later may also be aborted, mummified, stillborn, premature or born weak. Some pups may be born apparently normal but succumb within 9 days of birth.

If a newborn pup is exposed to CHV, the virus first reproduces in the nose and the tonsils; then it travels through the blood and spreads to other organs. The virus can affect blood clotting, causing bleeding problems within the organs.

These pups infected after birth may become acutely affected with a fatal illness between the age of 1 and 3 weeks. Affected pups often fail to suckle and may cry persistently. Some may have a nasal discharge and some develop pinpoint bleeding on their gums.

Puppies that have antibodies from the dam are not completely protected, but are less likely to develop a severe infection. A bitch may give birth to a severely affected litter and then, because she develops antibodies against CHV, may have normal litters subsequently.

Pups infected after 3 weeks old are less likely to have a severe infection, but instead show milder signs of upper respiratory tract infection and sometimes genital lesions.

Infected dams seldom show any signs of a problem until they lose a litter.

Prevention is currently largely based around management, such as keeping puppies warm to reduce the likelihood of systemic infection. Routine testing is not carried out, even when pups are lost, so there are no concrete data on how many puppies are lost to CHV every year.

Currently the main tests available for CHV are:

1. Blood tests for antibodies (‘serology’)
2. Viral isolation

Virology simply proves exposure to the virus but not whether it is a clinical problem; viral isolation requires live virus to grow in cell culture.

PCR (polymerase chain reaction) is a technique that can be used to detect CHV DNA. This has been done on tissue samples but, in theory, could be applied to nasal swabs from live dogs.

A new study being carried out by Ben Harris at The Queen’s Veterinary School Hospital, Cambridge University, aims to investigate this possibility: Having received funding from the Kennel Club Charitable Trust and endorsement from the Irish Setter Joint Breed Health Committee, Ben and his colleagues will be inviting owners of Irish Setters to submit swabs from dams and puppies to look for CHV DNA. The study is restricted to this breed to reduce complicating factors such as whelping problems as much as possible.

 Article supplied by Ed Hall our Breed Health Co ordinator.

Update on Ben’s study  January 2013

Ben thanks all breeders who supplied DNA samples. He is is now working with these samples but, unfortunately, it is taking longer than anticipated to get results.

Final update on Ben’s Study.

Ben has confirmed there will be no further updates, however we would like to thank those who supplied DNA samples.   

Updated: , October 2018

Canine Leukocyte Adhesion Deficiency (CLAD) is an inherited immunodeficiency condition which affects the white blood cells ability to fight infection. The good news is that Irish Setters now have a DNA test for CLAD which has, over time, allowed breeders to apparently eliminate the problem from Kennel Club Registered Irish Setters in UK.  

Affected puppies show infections from a very early age, often with umbilical (navel) infections from birth with other recurring infections of skin, mouth and sores that do not heal.  There may be tonsillitis, pneumonia as well as joint and bone problems. These infections usually respond well to antibiotics but, as soon as they are stopped, the infections return. Inflammation of the gums occurs when the pups are about 2 months old along with swollen jaws. Some joints become swollen, in some cases so much so that movement is difficult. Although it affects different pups to varying degrees CLAD is inevitably fatal.

CLAD is identical to human LAD and bovine LAD and this helped research as it was known that the mode of inheritance is by a single recessive mutation in a gene that is responsible for controlling a vital part of the function of the white blood cells.  This means that puppies have to inherit two copies of the mutant gene, one from its dam and one from its sire.  Research on the disease was carried out in England and Scandinavia, where the carrier rate was close to 12%. That meant that 12% of the tested population of Irish Setters was not suffering from and never would suffer from the disease but could pass on the mutant gene to its pups. Affected dogs are likely to die before reaching breeding age, but mating of two carriers will produce, on average, one affected, two carriers and one clear progeny for every 4 pups.

An Irish Setter dog was imported to UK in 2016 and is confirmed as being a CLAD carrier and we believe there is a second imported dog that is also a CLAD carrier.  Neither of these dogs appear on the Kennel Club register of dogs DNA tested for CLAD.

References

– Immune Deficiency in the Irish Setter (Granulocytophy) SEISC Southern Aspect 1990/1991
  Dr Gunilla Trowald-Wigh

– Irish Setter Club of Wales Memorial Lecture 22/2/98
  Speaker Dr Gunilla Trowald- Wigh, veterinary clinician from Uppsala University

– Leucocyte adhesion protein deficiency in Irish Setter dogs 1999
  Dr Gunilla  Trowald –Wigh, Lena Hakansson, Anders Johannisson, Leif Norrgren and Carl Hard af Segerrstad

– Canine Leucocyte Adhesion deficiency (CLAD) in the Irish Setter 2000
  Dr Jeff Sampson KC Canine Genetics Co ordinator

Update from Catherine Mellersh’s team at  Cambridge.

The followjng is an extract from an email to Breed Health Co-ordinators from Catherine Mellersh, previously of the AHT.

Finally, after a very long and challenging period of time, my team and I are settled in at the University of Cambridge and we are very excited to finally be in a position to offer a DNA testing service, which is also based in the Department of Veterinary Medicine and is called Canine Genetic Testing (CAGT).

The CAGT team, who have worked incredibly hard to get the service up and running, are passionate about providing high-quality customer service to offer accurate, breed-relevant, validated DNA tests and the service is uniquely positioned to offer DNA tests that are based on findings from completed research undertaken within the Department of Veterinary Medicine.

In contrast to many DNA test providers, all samples sent to CAGT for testing are retained indefinitely and are easily accessible to canine genetics researchers and their collaborators for research purposes. Moreover, all proceeds from the service will be used to fund additional research of inherited diseases in dogs and develop new DNA tests and breeding tools to benefit future generations of dogs

See our page: PRA Blindness for details of rcd 4.

Results for each of these tests are published in the Kennel Club Breed Records Supplement and the DNA status of each dog is recorded on the health test results for individual dogs.

https://www.thekennelclub.org.uk/search/health-test-results-finder/

Certain inherited conditions are caused by autosomal recessive genes that are faulty and this means that puppies need to inherit one copy of the faulty gene from each parent to develop the condition; both dog and bitch puppies can be affected.

If a puppy has no copies of the faulty gene it is clear and can never develop the disease nor pass on a defective gene.  If it only receives one copy it will be a carrier and will never develop the disease, but will pass on the gene to about 50% its offspring.  The difficulties arise firstly in identifying those dogs that are carriers, because if you mate carrier to carrier, bearing in mind they show no signs of the disease or of being a carrier, then about 25% of the offspring will be affected, about 50% will be carriers and about 25% will be clear.  Without a DNA test carriers can only be identified if they produce affected puppies and only then if mated to another carrier and by then, particularly if the disease is one that has a late onset, many puppies could be carriers waiting to be mated to other carriers.  The second difficulty is identifying affected stock if the condition does not occur until the dog is relatively old.

With a DNA test breeders know for certain whether a dog is affected, carrier or clear and that will help them make informed decisions.  Breed Clubs, in conjunction with KC, are able to formulate a control scheme that is individually tailored to their breed.

Each DNA test is specific to a particular mutation and will not establish whether or not a puppy will develop another condition.

CLEAR:  has two normal genes so will never develop the specific condition for which the test is designed.  It can only pass on a normal gene to its offspring.

CARRIER:  has one faulty gene and one normal gene and will never develop the condition for which the test is designed but will pass on either a normal or faulty gene to its offspring: approximately half of its progeny will inherit the mutant gene.

AFFECTED: has two copies of the faulty gene and will develop the condition for which the test is designed. It can only pass on the faulty gene to its offspring.

By establishing the genetic status of a dog and bitch before mating it is possible to predict the probability of the clear, carrier or affected pups in that mating.

Any mating that produces an affected pup should be avoided so there should be no matings of carrier to carrier, carrier to affected or affected to affected. By avoiding these combinations then no more puppies affected with the condition for which the test is designed need be born. 

Clear to clear is the ideal mating as it will not produce affecteds or carriers but this may not be possible immediately after a test becomes available as it will depend on the number of carriers within the breed.

However, always providing one parent is clear, other combinations can be used that do not produce affecteds.  Clear to carrier will produce a combination of clears and carriers and the puppies will need to be tested if they are going to be used for breeding. Clear to affected will produce all carriers and this combination is best avoided. By careful selection of parents and only using a carrier with other desirable characteristics and of particular merit to the breed it is possible to retain breed characteristics and, over the generations, breed out carriers. If there are many carriers in a breed then it would be inadvisable to discount them as the subsequent breeding pool could be greatly diminished.

It is important to realise, with the exception of affected to affected, clear to clear and also affected to clear the percentages are only statistical and will vary from litter to litter.

In Irish Setters we have 3 DNA tests available.

Both the PRA rcd1 and CLAD tests have been used effectively and it appears that both conditions have been eradicated from the breed in Kennel Club registered stock in the UK. The latest test for PRA rcd4 is available to breeders and there is no reason why the same success should not be had with this latest test.

This article has been reviewed by Professor Jeff Sampson the Kennel Club’s Canine Geneticist, now retired.

Updated: Monday, September 25, 2017 

Epilepsy means repeated seizures due to abnormal electrical activity in the brain and is caused by an abnormality in the brain itself. However a fitting dog is not always an epileptic dog. Fitting or seizures can be caused by a variety of disorders (including poisons, metabolic disorders and brain tumours), with epilepsy being only one of them.

Epilepsy is recognised as an inherited condition (idiopathic epilepsy) in some breeds, and typically signs start between 6 months and 3 years of age.

Signs: Fits occurring during exercise are unlikely to be epilepsy. Epileptic fits usually occur when the dog is quiet and even when rising from sleep: the dog collapses, is unconscious and unresponsive, thrashes it’s legs, often froths at the mouth and can empty its bladder and bowels.  It may also scream and moan loudly whilst fitting.

Action:  Try to prevent self-injury to your pet, but do NOT attempt to pull its tongue out and never put your face near to a fitting dog; you may be bitten as your dog will not recognise you whilst he is fitting. Some restraint may be necessary, but letting your dog just lie on the floor is probably best, so do not try and move him unless he is in danger.   Do not give stimulants.  As he recovers he will recognise your voice, so talk to him all the time in a reassuring manner.  Time how long the fit lasts and when he has recovered contact your vet; most fits last less than a minute – it just seems much longer. But if a fit does lasts for more than ten minutes or clusters of fits occur in rapid succession seek veterinary attention immediately.

On recovery, remove excess saliva and put the dog in a darkened room, keep quiet and warm.  Keep a detailed record of your dog’s fits, and let the Breeder know once the diagnosis has been confirmed by your vet. 

The Canine Epilepsy Support Group is a small charity set up in 1991 to offer practical and sympathetic support to the owners of epileptic pets, and the opportunity to talk to people who have learnt to live happily with an epileptic pet.

Their Advisory Panel includes Mr Francis Hunter, VetFFHom, MRCVS, Adviser on Homoeopathy,  Mrs Sylvia Gulbenkian, BVetMed, MRCVS, Adviser on Acupuncture, and Professor Steve Dean, BVetMed, DVR, MRCVS, Adviser on Veterinary Legislation.  The group also works closely with two Herbalists and a Holistic Therapist and they have set out to offer alternative options in addition to prescribed medication and veterinary care.Their aim is to help owners achieve normal, happy lives for their pets and are here to help and support you and your pet.: http://www.canineepilepsysupport.co.uk

The Phyllis Croft Foundation for Canine Epilepsy (PCFCE) was founded to bring comfort,support and information to the owners of epileptic dogs: http://www.pcfce.org.uk/

Update on Epilepsy Research at Canine Genetics Centre at Cambridge University.

Further update on the Canine Genetics Centre Epilepsy Study October 2024.

Many thanks to everyone who has supplied cheek swab samples from either affected or unaffected dogs. As well as the dogs from the UK, samples have been received from Utrecht University. The centre is aiming to collect DNA from around 200 dogs for each of the five breeds: ideally 100 cases and 100 controls so please keep samples coming in. They still have another approximately 9 months to collect samples and they’re hoping to reach this number and if they go beyond this it will be great as it’s a question of the more the better! So please keep sending samples and spread the word about the research.

 The five IE cases and five controls for each of the five breeds are now being whole genome sequenced and they  are finalising their analysis plans and computational scripts ready for the data to return in a few weeks – exciting!

The Canine Genetic Centre at Cambridge launched an epilepsy research project in March which included Irish Setters. Below is their latest call for samples from Irish setters which have been diagnosed with idiopathic epilepsy OR  is over 8 years old AND unaffected by epilepsy.

Canine Genetics Centre at University of Cambridge

Earlier this year we told you about new funding that Dr. Sally Ricketts had secured, in collaboration with Linnaeus Veterinary and the University of Helsinki, to extend our epilepsy research into FIVE new at-risk breeds – the Beagle, English Springer Spaniel, Giant Schnauzer, Hungarian Vizsla and Irish Setter.

We have been actively recruiting samples from case and control dogs over the last 6 months ready to send for whole genome sequencing (WGS) and last month our spotlight was on the English Springer Spaniel where you were all amazing in your help, thank you! Now it’s the turn of the Irish Setter as we need more samples please

Do you have a setter that …
… has been diagnosed with idiopathic epilepsy
OR
… is over 8 years old AND unaffected by epilepsy?

If so, please contact the team to get involved and help with our research – https://www.canine-genetics.org.uk/research/epilepsy/

Epilepsy Research Study at The Canine Genetics Centre at the University of Cambridge

In September last year the Kennel Club Genetics Centre held a research day hosted by the University of Cambridge. For the three Breed Club Health representatives who attended the highlight of the day was the initial announcement of a new epilepsy study involving five breeds which includes the Irish Setter.

The breed clubs are actively supporting this new study and are eagerly waiting for information as it is released. For those of you who supported our initiative and supplied swabs to the University of Helsinki you’ll be delighted to know that they are one of the research groups involved.

Below is the latest update from the Canine Genetics Centre.

Epilepsy programme update

Alongside our current genetic investigations of idiopathic epilepsy in the Border Collie and Italian Spinone, we are embarking on an exciting new study starting this year to investigate the genetics of epilepsy in five new breeds – the Beagle, English Springer Spaniel, Giant Schnauzer, Hungarian Vizsla and Irish Setter.

This two-year study is a collaboration with Linnaeus, the University of Helsinki and other veterinarians/research groups within our field, where we will utilise a newly developed approach, based on whole genome sequencing (WGS), to study the disease.

We are also keen to utilise the genomes of idiopathic epilepsy cases generated as part of the Give a Dog a Genome project, and so an arm of the study will extend to all of the breeds that participated in this project.

We are currently refreshing our website, so do look out for updates, and we hope to run a webinar later in the year to explain our study in more detail.  More information coming soon as the study progresses!

Estimated Breeding Values (EBVs) are a tool that can help breeders make breeding choices based on indicators of the genetic risk of complex inherited disease, which is more accurate than by using an individual dog’s test score alone. EBV calculations use all BVA/KC hip and elbow screening data and pedigree information from the individual dog and its surrounding family, to more effectively determine the genetic risk that each dog will pass this disease to its progeny.

An EBV can only be calculated for a breed if enough individual dogs across the breed have been scored. EBVs will become available for more breeds, when there are enough scores within the breed to make the calculations.

An Estimated Breeding Value (EBV) evaluates the genetic value of an individual dog, in relation to the whole of the dog’s breed. These EBVs are intended to help breeders reduce the prevalence of hip and/or elbow dysplasia by more accurately evaluating genetic risk.

EBVs are usually updated quarterly to ensure that data on newly scored dogs are incorporated and that EBVs are provided for newly registered puppies. They are  available on Mate Select.

Gluten-sensitive enteropathy in Irish setters

Ed Hall, MA VetMB PhD DipECVIM-CA, FRCVS

Emeritus Professor of Small Animal Medicine, University of Bristol

KC Breed Health Coordinator for the Irish setter

Summary

Gluten-sensitive enteropathy (GSE) is an intestinal disease that causes chronic diarrhoea and poor growth. It is caused by gluten found in wheat and by similar proteins in other related  cereals (barley, rye, oats). First documented in a specific line of Irish setters, it has been bred out. However, it may still occur in setters sporadically and it probably occurs in other dog breeds although is rarely proven as proof requires repeated intestinal biopsy. It shares some similarities to coeliac disease in people, and an antibody test used for coeliac disease may be a future non-invasive test. Treatment simply requires feeding a gluten-free diet.

Nearly 40 years ago, I was the first person to demonstrate an enteropathy (i.e. a chronic intestinal disease) in Irish setters caused by a sensitivity to dietary gluten, a component of wheat. So-called Gluten-Sensitive Enteropathy (GSE) has, unfortunately, become synonymous with the breed even though the breeding from the line of affected setters ceased and dogs of other breeds can also be gluten-sensitive.  

Irish setters affected by GSE developed intermittent or continuous diarrhoea after weaning and were typically underweight and stunted.  Intestinal biopsies showed non-specific inflammatory changes which were resolved by feeding a gluten-free diet. My studies also showed that if gluten was excluded in the first six months after weaning, severity of the signs were reduced or delayed. Breeding studies showed a familial tendency and a possible link to specific tissue types, but the genetic basis was never elucidated. Using so-called permeability probes, small harmless molecules that can pass through a damaged intestinal lining, an underlying ‘leaky gut’ was demonstrated even in dogs reared on a gluten-free diet suggesting this was the underlying defect. Passage of gluten or its breakdown products could then stimulate the immune system via an abnormal route and induce inflammation with consequent gut dysfunction.

Parallels have been drawn between GSE in setters and a GSE in people known as coeliac disease. Curiously, coeliac disease is found most commonly in red-haired Irish people. There is a clear association with certain inherited tissue types as determined by molecules on the surface of cells (so-called HLAs) which are also important in donor-recipient matching for organ transplants. Coeliac disease can manifest as chronic diarrhoea at any age, but if it develops in childhood it affects growth as well. Historically, coeliac disease could only be diagnosed by intestinal biopsy repeated after remission on feeding a gluten-free diet and then again when challenged with a gluten extract. Similarly, proof of a GSE in setters required the observation of abnormal clinical signs and intestinal biopsy changes whilst the dog was fed gluten, clinical remission and resolution of the biopsy changes when placed on a gluten-free diet, and then relapse of signs and biopsy changes when challenged with gluten. Clearly this prolonged process with a need for three biopsies is not likely to be undertaken in general practice. However, many dogs with chronic diarrhoea do respond to exclusion diets and have a so-called Food-Responsive Enteropathy (FRE), but whether gluten is the inciting ingredient is never proven.

So what is gluten? Grains of wheat are composed mainly of starch but also contain two main proteins: glutenin and gluten. Glutenin is a polymer that makes dough sticky and allows bread to rise, whilst it is gluten that is the component that is harmful to coeliac patients. Other related cereals contain similar proteins: secalins in rye, hordeins in barley, and avenins in oats. Because of their similarity to gluten, people with coeliac disease are often also sensitive to barley and rye and sometimes to oats. Maize (known as corn in the USA) and rice are only distantly related to wheat and have proteins (zeins and oryzeins respectively) that don’t cross‑react in coeliac patients and are, therefore, safe to eat. Consequently, rice and maize are frequently used to provide carbohydrate in gluten-free diets for dogs. However, very confusingly, maize flour is sometimes labelled as “maize gluten”, but it does not contain true gluten. Soy, legumes and pulses are alternative carbohydrate sources that also do not contain proteins related to gluten. This, perhaps, has led to the fad of feeding “grain-free” diets but replacing cereals with legumes and pulses can predispose to the development of cardiomyopathy in some dogs.

As stated, GSE almost certainly occurs in many breeds, not just setters, but has never been proven because to have to perform three biopsies (affected–remission–challenge) is unrealistic. Indeed this process is no longer used to diagnose coeliac disease: an initial biopsy is paired with an antibody test to make the diagnosis. Antibodies to an enzyme called tissue transglutaminase (tTg) in the gut lining cross-react with gluten and are a marker for the disease. As yet nobody has tested for tTg antibodies in setters with suspected GSE. However, one research study found increased tTg antibodies in dogs with inflammatory bowel disease and alimentary lymphoma but did not then trial a gluten-free diet. Border terriers with paroxysmal movement disorders (abnormal, involuntary and often jerky movements, sometimes mistaken for epilepsy) have been shown to have increased tTg antibodies and do improve on a gluten-free diet.

Finally, successful treatment of GSE should simply be by feeding a gluten-free diet, i.e. avoiding wheat, barley, rye and possibly oats. Rice and maize should be safe to feed, and non‑cereal foods such as soy, legumes and pulses etc can be alternative sources of carbohydrate. Anecdotal stories of dogs affected with a GSE that also need steroids to control signs almost certainly didn’t have a GSE.

A gluten-free diet is often recommended for babies under six months of age as it was initially thought that early exposure to gluten predisposed to the development of coeliac disease. This is not current thinking, but baby food manufacturers still err on the side of caution and only produce gluten-free foods for babies less than six months of age. There is no evidence that feeding a gluten-free diet prevents GSE in setters, although it did appear to reduce the disease severity, or at least delay onset during the critical growth phase.

In conclusion, GSE has been reported in Irish setters but almost certainly occurs in other breeds. Proof is usually lacking, but undertaking a diet trial with an exclusion diet  such as a single novel protein and carbohydrate diet or a hydrolysed diet, which are both gluten-free, is recommended.

1. For Great British Bake-Off fans, rye contains very little glutenin which is why rye bread doesn’t rise much.

This study was published in December 2022 by Marta Plonek & Dutch colleagues in Frontiers in Veterinary Science. This study focusses on phenotypic characteristics of idiopathic epilepsy and epilepsy of unknown cause in Irish Setters and looks at its mode on inheritance.

To read the full study:  

Our breed health and conservations plans (BHCPs) use evidence and data to help us understand the health issues found in each pedigree dog breed. These plans help breeders and owners identify health and welfare problems and use information, health tests and health schemes to avoid passing on those problems to future puppies. They also support and provide breeders with tools and specialist expertise to help manage genetic diversity, understand the impacts of close breeding, and find the best ways to preserve the population of their breed.

Working together for the breed

We’ve worked with breed clubs and breed representatives to gather all available evidence to help us determine the priority concerns for the breed and decide how we can work together to manage and reduce these problems.

The full evidence base is available at the discretion of the breed clubs, however if you would like to seek access to the full report, please contact our health team.

Health (The Kennel Club)

More about health

If you have any concerns about a particular health condition in your breed then you may wish to speak to your vet or you could contact your breed health co-ordinator.

Breed health co-ordinators are individuals working on behalf of breed clubs and councils who are advocates for the health and welfare of their chosen breed. They act as a spokesperson on matters of health and will collaborate with The Kennel Club on any health concerns the breed may have.

To contact your breed health co-ordinator please email:

Health (The Kennel Club)

Breed watch

Category 1

Currently no points of concern specific to this breed have been identified for special attention by judges, other than those covered routinely by The Kennel Club’s breed standard.

Read more about Breed Watch

Breeding restrictions

There are a number of The Kennel Club’s rules and regulations that may prevent a litter from being registered, find out about our general and breed specific breeding restrictions below.

More about breeding

With effect from 6 January 2025, imported Irish Setters and litters from overseas sires will only be eligible for Kennel Club registration if they are proven to be clear or carriers of canine leukocyte deficiency (CLAD) and progressive retinal atrophy (PRA rcd1), or if they have hereditary clear status.

Identified carriers may be used for breeding, provided they are only mated to an Irish Setter that is either hereditarily clear or DNA-tested clear of CLAD and PRA (rcd1).

For litters with overseas sires, the sire must be proven to be either clear or a carrier of the conditions.

This scheme has been introduced at the request of the Breed Club(s) to safeguard the UK Irish Setter population from the introduction of these conditions.

The breed health and conservation plans ensure that all health concerns are identified through evidence-based criteria which is compiled into a single document.  The Kennel Club has gathered all available health information and data about each specific breed which  is used as a basis to collaboratively create a strategy to tackle the health priorities of that particular breed.

Click below to load pdf file

KC Breed Health & Conservation

This information is now held on KC website and can be accessed through the health test results of individual dogs.      https://www.thekennelclub.org.uk/search/health-test-results-finder/

Lungworm or French Heart Worm

Lungworm (Angiostrongylus vasorum) has only become a potential problem in UK in the last 15 or so years and affected dogs are now seen as far north as Scotland. It is generally felt that our warmer climate is the reason for its spread.  It has a complicated life cycle and dogs eating the snail or slug is part of the cycle. In dogs, the worm usually lives in the blood vessels passing from the heart to the lungs, but it can migrate to other sites including the eyes and brain. It does not affect humans and cannot be transmitted to you through your dog.

Dogs that are at risk of this parasitic worm are those that either eat slugs or snails deliberately,or eat grass and accidentally ingest small slugs and snails.  Younger dogs seem to be more likely to get infected but it is not unknown for older dogs to suffer.

Vets will advise lungworm treatment as part of your dog’s health regime because if it is not treated it can lead to death.  If you have one dog that is affected it is sensible to treat all your dogs.

Symptoms include:
Coughing
Breathing problems
Weight loss
Vomiting
Diarrhoea
Persistent bleeding from cuts
Depression
Not wanting to exercise
Weakness
Paralysis

If you know you have snails or slugs in your garden:
Don’t leave water bowls outside
Don’t leave toys and chews outside
Be particular about removing dog faeces daily
Don’t assume your usual worming tablets treat lungworm
Ask your vet about the treatment that is available and make sure your dog is
treated regularly.

The link below takes you to the Kennel Club article on lungworm

https://www.thekennelclub.org.uk/health-and-dog-care/health/health-and-care/a-z-of-health-and-care-issues/lungworm/

Go to the site below to see a cartoon video of the life cycle of the lungworm

http://www.youtube.com/watch?v=gHgmIc4Vbrw&feature=player_embedded

As a breed we are used to submitting DNA samples from our dogs either for specific disease testing such as PRA-rcd1, PRA-rcd4 and CLAD, or for sending DNA for research purposes such as epilepsy.  

There are, however, other uses for DNA, such as DNA profiling and parentage testing. The article below is written by Dr June Swinburne – Director of Animal DNA Diagnostics Ltd – in which she covers some of the advantages in adopting routine DNA profiling for our dogs:

If you value accurate pedigrees for your dogs and the wider breed population, then the scientific validation of their accuracy should be considered; undoubtedly errors exist in current pedigrees, whether accidental or not! When planning breeding the accuracy of pedigrees is valuable, but if at any point an inherited disease requires investigation this becomes crucial in investigating the basis for the inheritance, and which individuals are at risk. I hope that the following article will provide a basis for understanding how DNA profiling works, and give food for thought and discussion!

Uses of a DNA profile 

There are several uses for DNA profiling. These include:

• To enable parentage verification and pedigree validation
• As a research resource if new diseases emerge
• To obtain a unique identification of the animal at the time of disease testing
• To obtain a unique identification of the animal in the event that he is stolen or lost

A DNA profile consists of data from a selection of genetic ‘markers’. There are thousands of genetic markers in a dog’s DNA, and these are of several different types; the ones we use for profiling are known as ‘microsatellites’. Typically a DNA profile will consist of data from 13 – 19 microsatellites. The microsatellites chosen for use are called a ‘microsatellite panel’.

It is extremely likely that the DNA profile from any one dog is completely unique. For this reason it is similar to a fingerprint, and indeed a DNA profile is often referred to as a ‘DNA fingerprint’. The only exception to this uniqueness would be between identical twins, which are genetically identical.

Different laboratories around the world could choose different selections of microsatellites for the panel that they use, however usually there is a core of markers common to most labs. These core markers are decided by scientists at the conferences held by the International Society of Animal Genetics (ISAG), which take place every second year. Here scientists working in the field discuss the pros and cons of the different microsatellites that they have used and decide which ones work best. The panel of markers which Animal DNA Diagnostics Ltd uses is a commercially available panel consisting of 19 markers.

Parentage verification

The basis for the use of microsatellites in parentage verification is that they vary in length. Each animal has two copies of each microsatellite, one inherited from each parent. In its most basic form, parentage verification checks that the copies inherited by the puppy are also present in the presumed parents – if they are not then the puppy cannot be from these parents. In order to perform parentage verification DNA profiles from the dam, all possible sires and the offspring are required.

This is much easier to understand in an illustration:

The illustration above is for one microsatellite. As shown the dam shares copy H with the puppy (‘Progeny’), and Sire 1 shares copy D with the puppy, so for this microsatellite the inheritance agrees with Sire 1 as the father. In contrast Sire 2 is excluded as the father as he shares no copy with the puppy. Just by chance a potential father could share copies with the puppy, and it is for this reason that more than one microsatellite is examined. As the number of microsatellites examined is increased, the chances of a male sharing copies of all microsatellites with a puppy which is not his offspring decreases dramatically. The panels in use for parentage testing today (consisting of 13-19 microsatellites) can reduce this chance to negligible. The probability that the qualifying male is the father is therefore very high.

There is one situation where care must be taken. This is in the case where either of two closely related males could be the father.  In the vast majority of cases parentage verification will distinguish which of these males is the sire. In rare cases paternity is not conclusively determined with the primary marker panel and further markers are required. It is important that all males which could be the sire are tested; this is especially important where potential sires are closely related.

We have focussed on questioning which male is the sire of the puppy, but the analysis does also confirm that the presumptive dam is in fact the mother; in rare cases a puppy is paired with the incorrect mother and this will be detected.

Sample collection 

A DNA profile is obtained from a sample of an animal’s DNA. This DNA sample can be extracted from a number of different sources including, among others, a blood sample, a mouth swab or hair roots. The DNA obtained from each of these sources is, to all intents and purposes, the same and will not change during the animal’s lifetime. So a DNA profile obtained from a puppy would be identical to that obtained from the mature dog.

For dogs, the most usual source of DNA is from a buccal swab – that is a sample of cheek cells taken from swabbing the inside of the animal’s mouth. The aim of a buccal swab is not, as is often thought, to obtain a sample of saliva, but rather to collect loose cheek cells which are constantly being shed inside the mouth; these are easily collected with a cotton swab or collection brush by rubbing this firmly against the inside of the cheek.

One drawback to buccal swabs is that they can potentially be contaminated with DNA from other dogs. This is more likely in un-weaned puppies who may have their mother’s DNA inside their mouths. Young dogs may also have DNA from their companions inside their mouths. For this reason it is preferable for dogs to be separated from their companions for at least one hour before sampling. In addition, to prevent contamination of the sample, dogs should not have access to food for 2 hours before sampling.

Once taken the swab should be left to dry thoroughly before being sent to the laboratory. Swabs do not need to be refrigerated, and can be sent within the UK in the normal mail in suitable packaging.

Once the swab arrives the DNA will be extracted and stored frozen. DNA can be stored frozen indefinitely, but the quality of the sample cannot be guaranteed for extended periods.

Information submitted with the sample

Generally the KC registered name, KC registration number, date of birth, sex, microchip number, sire and dam’s names and registration numbers are submitted with the sample. Sampling may occur before KC registration, but ideally not before microchipping, as it is essential that the dog can be identified.

Avoiding sampling failure and error

The most usual problem encountered with buccal swabs is that the swabbing is not performed adequately and that there is little or no extracted DNA. This can only be avoided by the owner obtaining a suitable sample by preparation and careful swabbing.

In addition, the possibility of mix-up does arise where several dogs are being swabbed in the same session, and swabs become mixed up. This is particularly a problem when litters of puppies are sampled which are of similar appearance. The owner must take great care that the sample is labelled correctly and can be matched with the correct puppy.

A more exacting sampling procedure can be put in place by requiring that the sample is taken by a vet. This could be combined with checking other identification such as a microchip or tattoo, the details of which can be attached to the DNA sample. This approach is used in the registration of Thoroughbred racehorses, where foals are micro-chipped at the same time that a DNA sample is taken; parentage verification is mandatory for their entry to the studbook. The use of a veterinary surgeon does however add to the costs. An alternative could be that the samples are taken by or confirmed by a third party, such as Breed Society officials, often at a breed show or a clinic specifically held for DNA sampling.

The possibility must be considered that owners may purposefully submit samples from the wrong puppy. This could be profitable for an owner where parentage of a puppy could add to his value; a sample from a legitimate puppy from the preferred parents could be submitted in place of the faked puppy’s sample. One could also imagine scenarios where false submission could be used to avoid KC restrictions on litter numbers. Although these dishonest practices could be imagined, in practice these should be rare as parentage testing in the next generation would uncover any anomalies.

Great care is taken in the laboratory to avoid sample mix-up. Procedures are put in place to ensure that this is avoided.

Data storage 

A database will store the DNA profiles, and perform parentage verification. In it’s most basic form the parentage verification analysis would simply ask the question “Does the male(s) suggested as the sire of this puppy qualify as the father?” As the database builds up increasing numbers of profiles, the additional question could be asked “Do any other males on file qualify as the sire?” and consequently a more accurate probability can be assigned to the parentage assignment.

This article was written by Dr June Swinburne when she was Director of Animal DNA Diagnostics Ltd

Porto-systemic shunts (Liver shunts)

Professor E J Hall

A porto-systemic shunt (PSS) is an abnormal vessel that bypasses the liver so that blood which would normally drain from the intestines (via the portal vein) to the liver is ‘shunted’ directly into the general circulation. This causes significant ill health because of toxins from the gut reaching the brain. Ideally the shunt is surgically corrected.

Shunts are being recognised with increasing frequency in pedigree dogs (and occasionally in pedigree cats). They are most common in giant and toy breed dogs. Occasional cases have been seen in Irish setters although fortunately this is not (yet) a well known problem in the setter world.

We know that shunts are an inherited condition in the Irish wolfhound, but because of the prevalence in other specific breeds we suspect it is inherited in most cases. The exact genetic defect is not known yet, but work is underway in the USA. However, the mode of inheritance is not simple and parents and littermates may not be affected. However, breeding from parents that have produced affected offspring, or from affected animals cannot be recommended.

This article was written at the request of the Breed Club Health Coordinators with the aim of both raising awareness of this condition, so that cases are recognised and successfully treated, and ensuring appropriate measures to control breeding are applied.

This article draws on a client FAQ sheet given by the author to owners of affected dogs referred to Bristol Veterinary School.

What causes a shunt ?

This is a congenital problem, but although a patient is born with the PSS, signs usually only begin to develop weeks or even months after weaning, as the protein content of the diet increases. It is likely an inherited condition and breeding from affected animals is not recommended.

What does a PSS do to the animal?

A PSS can have a number of consequences:

1.Toxins [including ammonia (NH₃)] produced by bacterial fermentation of protein in the intestines are not filtered by the liver and affect the brain. Variable neurological signs of ‘hepatic encephalopathy’ may occur e.g. restlessness, intermittent blindness, aimless wandering, head pressing, disorientation, increased thirst and even fits (seizures) and coma in severe cases.

2. Nutrients are not metabolised by the liver, which remains small. This can lead to stunting of the animal.

3. If the liver fails to produce adequate blood proteins, fluid may accumulate in the abdomen (‘ascites’) giving a pot-bellied appearance.

4. Sometimes the abnormal liver function leads to formation of stones in the kidneys and/or bladder and signs of blood in the urine or even obstruction.

5. Occasionally bacteria escape from the gut and, having evaded the liver, enter the circulation causing periods of ill health and raised temperature.

Where is the shunt ?

There are many anatomical variations on a theme, but in general there are two main types:

1.Intra-hepatic – the vein draining the intestine passes through the liver without dividing. This arises most frequently from failure of a vessel normally only present in the foetus to close. It is most commonly seen in giant breed dogs, and is a surgical challenge to correct.

2.Extra-hepatic – the shunt completely bypasses the liver and enters the general circulation directly via one of several possible routes; porto-caval is the most common type. Extra-hepatic shunts are more amenable to surgical correction.

Royal Veterinary College carries out an ongoing research on epilepsy which helps to develop technology to aid its long-term management for vets and owners, and identifies fresh new ways to manage this disorder. RVC has published series of articles on epilepsy – you can access them by following below link:-

https://www.rvc.ac.uk/research/projects/epilepsy-in-companion-animals

Autoimmune diseases are encountered frequently in dogs although thankfully the problem is not seen frequently in Irish Setters.

RVC researchers have launched an innovative new research project called the RVC ImmunoRegistry. This detailed investigation about autoimmune diseases in dogs involves collecting data in real time over one year after diagnosis to find out how affected dogs respond to treatment.

All participating dogs must:

Reside in the UK (are there any restrictions on age of dog or neutered status etc)

Have received a diagnosis of one of the conditions below within the past 10 days

– IMHA – immune-mediated haemolytic anaemia

– ITP – immune thrombocytopenia

– IMPA – immune-mediated polyarthritis

– SRMA and steroid-responsive meningitis arteritis

If you believe you have a recently diagnosed dog that would be eligible for this study, please visit the link below:

http://www.rvc.ac.uk/research/projects/rvc-immunoregistry-research-into-canine-autoimmune-diseases