Here she is with 3 weeks to go before she whelps. It’s “guess the number of puppies” time, now. Next question: will there be any Chocolate and Tans? Follow the news at sunsong.co.uk as we countdown to Gøril‘s litter.
Dachshunds Go Around the World Colouring Book has just been launched and is aimed at adults and older children. The price is £5.95 in the UK.
For a limited period (probably a week) it is being launched at £4.95, so this is your opportunity to purchase at this special price. Certainly the books make for a memorable and fun gift. Just in time for Christmas!
I am grateful to Barbara Thiel for sharing her latest article on the application of Breed Health Strategies in the Greyhound breed in Germany. Barbara was one of the delegates I met at the IPFD’s 3rd International Dog Health Workshop in April this year. She has taken many of the ideas we discussed in the Breed Specific Strategies working group and discussed how they could be applied in her breed, Greyhounds, in Germany.
I think it’s a great example of how some of the basic principles can be tailored to reflect different international contexts. The approach required in Germany will inevitably be different to that in the UK and what might work for us in Dachshunds, may not work for Greyhounds.
Well worth a read – here. (Translated from German)
Many breeds have been pinning their hopes on finding the genetic mutations responsible for diseases and health issues with the expectation that breeders will be able to test their way out of problems.
In some breeds, we have been “fortunate” to be able to identify so-called simple mutations from which DNA tests have been developed. In theory, these enable breeders to make informed decisions before breeding from a dog and bitch so that no “affected” puppies are born. It is, of course, important that we know how these single genetic mutations directly correlate with the clinical manifestation of the disease. There is also the potential unintended consequence of a reduction in overall genetic diversity in these breeds which may result from removing Affected (and sometimes, Carriers) from the breeding population.
I’ve written before about a couple of examples where “simple” recessive mutations may, in fact, subsequently turn out not to be so simple. One example is Cord1 PRA in Miniature Dachshunds where we now know there is a second mutation (MAP9) which influences the age of onset of blindness. This second mutation helps explain why some Cord1 Affected dogs don’t suffer retinal degeneration until old age (if at all). The other example is the POMC mutation which was associated with obesity in Labradors. The mutation is also found in Flatcoated Retrievers, but this breed is not noted for having an issue with obesity.
In the case of so-called complex diseases (e.g. Hip Dysplasia, Epilepsy, BOAS) there has been an assumption that multiple genes are involved in these conditions as well as environmental factors.
The search for simple and complex genetic explanations for canine diseases has been accelerated by the development of Genome Wide Association Studies (GWAS). These are large-scale investigations of genetic disease that aim to identify genetic variants scattered throughout the whole canine genome. The canine genome is a sequence of 2.4 billion letters of DNA (G, A, C and T), so the scale of these studies is truly enormous and requires massive computing power. In human genetic research, the number and scale of GWAS have been growing year by year. In 2016, of more than 400 published studies, around 50 involved studying the genomes of samples of more than 100,000 people. A similar situation has occurred in dogs. Last year, a team from Cornell University published a canine GWAS paper based on a sample of more than 4200 dogs from 150 breeds as well as mixed breeds. They tracked down two loci linked to Elbow Dysplasia and one for Hip Dysplasia. They also identified loci associated with epilepsy and lymphoma.
There has, however, been some debate about the extent to which GWAS in humans has actually led to useful clinical applications. For example, they may not fully explain the genetic familial risk of common diseases and there is a small size effect for many of the identified associations. They have also proved to be of limited value in predicting disease risk. All these shortcomings, of course, would mitigate against GWAS being of much practical use to dog breeders.
A new omnigenic model
A paper published in the journal Cell in June this year adds further challenge to the idea that there are relatively simple, causal, links between genetic variation and disease. In their paper, geneticists Boyle, Li and Pritchard from Stanford University suggest that many genetic variants identified by GWAS have no specific biological relevance to diseases. Their view is that common illnesses could, in fact, be linked to hundreds of thousands of DNA variants. Their conclusion is that, for complex traits, association signals from a GWAS tend to be spread across the whole genome, including near many genes without any obvious connection to the disease. They also state that most heritability can be explained by effects on genes outside core pathways. They called this an “omnigenic model” whereby most genes matter for most things!
“There’s been this notion that for every gene that’s involved in a trait, there’d be a story connecting that gene to the trait,” says Pritchard. But he thinks that’s only partly true because genes don’t work in isolation. They influence each other in networks so, if there is a variant in one gene, it could well change a whole gene network. All this suggests that the search for simple genetic causes of complex diseases will continue to be challenging and breeders are unlikely to have new DNA tests for these conditions anytime soon. Of course, GWAS may well continue to help identify simple recessive mutations and it is important to remember that the paper is critical of the value of GWAS in human studies where the population structures are likely to be rather different to pedigree dogs with their closed gene pools and high levels of inbreeding.
I recently saw a comment by Carol Beuchat (Institute of Canine Biology) that 70% of genetic disorders in dogs are caused by recessive mutations. We also need to know the extent to which these have an impact on canine welfare as many of them could be relatively trivial. Developing yet more DNA tests for some of these would actually make life more difficult for breeders. Given that many of the high welfare-impact diseases are in the remaining 30% of complex conditions, it’s going to be virtually impossible to “breed away” from the “bad genes”.
Hope for the future
The AHT’s “Give a dog a Genome” project is a current example of Whole Genome Sequencing (WGS) which has the potential to avoid some of the shortcomings of non-sequencing GWAS. Here, by sequencing the genomes of different breeds, the AHT hopes to identify the variations that exist within the canine genome. Having built a database of “neutral variants” from healthy dogs, the genomes of dogs affected by particular diseases can be compared. The different variants between healthy and unhealthy dogs potentially lead to the identification of the associated disease mutation.
The AHT can already claim some success for their WGS work; on their website, they showcase the development of the DNA tests for cerebellar ataxia in Hungarian Vizslas and primary open angle glaucoma in the PBGV. The Vizsla genome sequence can now be used as a control sequence in future studies of inherited diseases in other breeds. With more than 70 breeds participating in the Give a dog a Genome project, the AHT expects to see many more useful and practical developments like those in the Vizsla and PBGV.
I’m sure all the breeds who are participating in the GDG project will recognise the scale and complexity of this project. I hope they see it as a longer-term opportunity to address health issues. In the meantime, they need to look for and implement other strategies that address the root causes of disease in pedigree dogs; closed stud books and high levels of inbreeding.
[There’s a presentation – pdf- by Boyle, Li and Pritchard here]
Many Breed Health Coordinators have been waiting expectantly for Philippa Robinson to publish the results of her KarltonIndex (KI) review for 2017.
Like me, they are no doubt disappointed to have read the following announcement on the KI Facebook page recently: “I have to extend sincere apologies to everyone waiting for an update on the Karlton Index. A combination of masses more health activity and breed health information means that it takes far longer to assess each breed than ever it did back in 2013. For this, the breed communities should be very much applauded. This, together with an unexpected personal family health scare has resulted in yet another delay. However, with regard to the Karlton Index assessment I have to conclude and accept that the project just does not have the resources currently to fulfil this. Consequently, I am going to reconfigure the whole process and will report back first to the breed communities who have recently been cooperative and interactive with the work, and then wider groups.”
I have written about the KI before but, for those not familiar with it, here’s a quick bit of background. Philippa Robinson picked up her pedigree puppy, Alfie, in November 2002, having done years of research into what breed to have and which breeder to buy from. Her experience of finally getting the dog of her dreams only to have it shattered by ill-health, familial disease and heartbreak, is the motivation behind all of her campaigning.
Set up in Alfie’s memory, The Karlton Index was launched in March 2011 with the hope of bringing something constructive and helpful to the heated debates around dog welfare. Philippa brought tried and tested tools from the world of business, a world in which she had excelled for three decades, and applied them to activities related to dog health. The framework is designed to explore how people can engage with, collaborate on, and discuss dog health more objectively. The first I knew of it was when someone emailed me to say there was an article in Dogs Monthly announcing the Dachshund breed was “Top Dog” in a review of breeds. With my background in business improvement, the framework appealed and made complete sense to me as a potential way to accelerate the work being done to improve pedigree dogs’ health.
The Karlton Index measured all UK breeds for the first time in 2011, then again in 2013. I was delighted to find our breed once again rated as Top Dog against some very worthy peers including the Irish Wolfhounds, Flatcoated Retrievers, Otterhounds, Leonbergers and English Springers.
In collaborating with Breed Clubs, Philippa quickly learned that most breeds are blessed with breeders of passion and commitment, individuals who make it their life’s work to develop and nurture the best for their dogs. Working alongside breed ambassadors like that and ensuring that those individuals receive the credit, the support and the encouragement they deserve has now become a central pillar to The Karlton Index. Giving due recognition for the hard work achieved in many breeds culminated in the inaugural Breed Health Awards 2013, with the generous support of the Kennel Club Charitable Trust.
Philippa would, I’m sure, be the first to admit that her work completely changed her perceptions of where the root causes of breed health problems lie. She remains an active campaigner for canine welfare but her interests and influence go far beyond the role of Breed Clubs and the KC.
Progress and successes
Having spoken with her recently, I know how disappointed she is that she has not been able to complete her 2017 analysis in the timescale she had hoped. Being a “glass-half-full” person, my take on it is not disappointment but delight. That fact that, in just 6 years, there is so much more information that Philippa has had to review is a measure of the progress that has been made. This is particularly true when you realise that Philippa was only reviewing a sample of 20 breeds this year, not the full list of KC recognised breeds. There must be a remarkable amount of activity being implemented by these breeds and, I’d hazard a guess, the same is true in many of the breeds not in this small sample. Of course, the real test is whether or not there is any progress being made in the health of the dogs.
The KI assesses progress in four areas: Leadership, Communication, Participation and Impact. Arguably, only “Impact” matters. In reality, without the enablers (Leadership and Communication), there would be no Participation and then no Impact.
I make no secret of the fact I am an enthusiast of the KI approach. I would be, irrespective of what score my breed had achieved. I have used similar approaches in my work to help numerous organisations improve their performance. I am, therefore, keen to see what options Philippa comes up with to reconfigure the KI process. I won’t attempt to pre-empt the outcomes of this but I will comment on a couple of things I think would be really helpful to see for the future.
Firstly, the KI has amassed a wealth of information on good practices in breed health improvement. This is well-aligned with the aims of the International Partnership for Dogs (IPFD). The IPFD website is becoming the go-to place for international examples of good practice. Indeed, many of the plans emerging from this year’s International Dog Health Workshop, held in Paris, referred to the use of dogwellnet.com as the obvious repository for sharing knowledge. If there was some way for UK good practices identified by the KI to be shared using this same channel, it could be a win-win as well as reducing duplication of effort.
Secondly, in 2013 we saw the inaugural Breed Health Awards and, last year, the first Breed Health Coordinator of the Year Award. Both of these are excellent ways to showcase the fantastic work being done to improve breed health. Pedigree dogs and their health continue to be in the public spotlight and there are many vocal critics who seem not to be aware of the sheer amount of good work being done (by volunteers). What better way to shape the story than to have a range of awards from an evidence-based model to celebrate progress and achievements? We need to recognise the many unsung heroes who work tirelessly to protect the futures of their breeds.
I’ll end this month by thanking Philippa for her vision in establishing the KI and also congratulate those breed clubs who have been collaborating with her in recent months. It is so encouraging to hear about the great work being done within many breeds; long may it continue.