2013 International Equine Conference on Laminitis and Diseases of the Foot. November 1-3, 2013

The aim of this conference is to "To engage veterinarians, farriers, caretakers and the greater equine community in a collaborative effort to advance, expand and disseminate knowledge through research and collective experiences to effectively prevent and treat Equine Laminitis and Diseases of the Foot."

Dr Carrie Finno will be presenting a paper on HWSS at the Laminitis Conference

Here you will find the programme for the conference.

In association with the conference the Journal for Equine Veterinary Science publishes the abstracts for the conference.

The speaker immediately prior to Dr Finno is Dr David Hood.  Dr Hood will be talking about how the hoof capsule is formed and details the interactions between the protein layers and the lipid layers of the hoof wall. The process of  hoof formation is known as cornification.

"Cornification and physiology of the foot: As indicated
above, cornification makes important contributions to the
physiology of the normal foot. For example, the specific
variations in cornification are responsible for establishing
the regional differences in the relative strength and elasticity
that exists between, and within, components of the
hoof capsule. These regional differences are critical to the
normal biomechanics of the hoof. Additionally, as cornification
involves forming attachments between the extracellular
matrix lipids and the cell envelope, as well as
between the cell envelope and the proteins of the intracellular
matrix, it is a major factor in maintaining the
structural integrity of the hoof capsule. As the lipids of the
extracellular matrix organize during cornification, they
decrease the ability of water to migrate through the wall
and allow the hoof capsule to adapt to different
environments."

Hood, D. (2013) Hoof wall cornification and its significance in disease conditions. Journal of Equine Veterinary Science 33 (2013) 857

The work of Dr Hood is highly relevant to HWSS as it explains why the interactions of the lipid and protein layers are so important in maintaining hoof integrity.

Dr Finno will discuss the clinical signs of HWSS and explain how the genetic testing has been performed.

Take-home message: Hoof wall separation syndrome is
an autosomal recessive condition in Connemara foals. A
genetic test will allow accurate diagnosis and prevention of
future cases.
Finno,C., Bannasch,D., Stevens, C., Young, A., Ramsay,S. (2013) Clinical and genetic investigation of connemara hoof wall separation syndrome. Journal of Equine Veterinary Science 33 (2013) 857

Other speakers of  note are Drs Chris Pollitt, Fran Jurga, and James Orsini.

General News Updates

Those readers of the blog who also follow the HWSS Facebook page will already know that last month the number of hits on the blog reached 20,000 - this total has been reached in 19 months of operation.  As of right now the hits are 20,570.  There has been big upsurge in traffic, especially from Ireland.  As the number of hits from Ireland does not even register in the top ten source countries, which is deemed to indicate a low internet presence, this increase in traffic may be in part due to the following:

 DoneDeal advertisement

To whomsoever paid for and listed this advertisement the Irish Connemara Pony breeders should be grateful. From the perspective of the global community the significance of the HWSS issue does not seem to be understood in the heartland of Connemara pony breeding.  

It is a proven fact that continuing to ignore the existence of a genetic disease will do far more harm to the sales market than accepting that there is indeed a problem and doing something positive about it.  This has been proven in the past in the case of both HYPP and HERDA.

Linked to the incidence of  the expression of genetic disease in any population is the level of inbreeding in that population.    Deirdre Feely in her 2003 paper Characterisation of the Connemara Pony Population in Ireland states the following - the highlights are those of this blog editor:

"Following the analysis, it appears that the Connemara Pony breed is being confronted with two problems. Firstly, the survival of the traditional type of breed is under threat, and secondly, the genetic diversity of the breed is diminishing.

Today, the riding industry is an important outlet for Connemara Ponies. However, there is concern that this industry is instigating a shift from the traditional type of pony, to a taller, ‘modern’ type. The traditional type of Connemara Pony is perfectly adapted to the environment in which it developed and is completely distinct from other equine breeds. It may be necessary to safeguard against market forces inciting the disappearance of the traditional type of pony, which is a valuable national resource, and once lost can never be recovered.

The results generated from the characterisation of the Connemara Pony population indicate that past breeding practices have caused a significant loss in the breeds’ genetic diversity. To ensure that the genetic variation in the breed does not recede to a detrimental level, breeding policies need to be altered.

In future, it is vital that sire family sizes become more balanced, giving all stallions a better opportunity to breed their own replacements in the next generation. This would help to control the level of inbreeding and genetic diversity within the population.

The stallions used for breeding are closely related to each other and tend to be of similar ancestry or breeding lines. From a genetic diversity perspective it may be advantageous to have a pool of breeding stallions that are less related to each other to bestow a variety of genes to the proceeding generations.

As relationships among animals in the present population is high the mating of related animals is inevitable. Breeders must be very vigilant in respect to the stallions that they use for breeding to ensure that a minimal amount of inbreeding is practised.

There are 16 different countries, outside Ireland, that have formed their own Breeders’ Societies and maintain their own stud books. A study is presently being undertaken to characterise the Connemara Pony populations in a number of these countries. It is hoped that these animals may be a source of genetic variability that could be used to widen the gene pool of the Irish Connemara Pony population.

Adequate genetic diversity is vital for the long term health and viability of any population. Thus, it is vital that breeding practices are altered in order to secure the future prosperity of the Connemara Pony breed.'

Sadly this advice does not appear to have been taken on board by the majority of the ruling elite within the pony breeding community worldwide, not just in Ireland.  

Analysis of the genetics of the Connemara pony in all of the countries where the ponies are bred is presently underway.  If the issue of  over used bloodlines and stallions is not addressed then we can expect to see the incidence of new emerging genetic disorders to rise.   

HWSS is potentially the 'canary in the mine' - an indicator of what is to come for the breed if fundamental changes are not made now, about the selection of breeding stock to reduce the level of in-breeding.  Over use of popular or fashionable stallions is the leading cause in-breeding and subsequent population decline.  

There has to be a shift in outlook from just breeding the next generation, to looking as to what will happen in three to five generations, if this breed is to survive in a healthy state for future pony owners and breeders to enjoy.

The results of this work to date can be read on the new website Connemara Pony Genetics International  Comments and questions on the presented papers is encouraged and contributions for publication are invited.

Another new site has also recently been started Connemara Pony Breeders/Producers of Ireland, Chat & Debate where hopefully discussions of importance will not be censored as has happened in the past on other sites.

Research Update

• A descriptive case report covering the clinical signs of HWSS and the pedigree research has been submitted for publication to the relevant, top peer reviewed journal available.  This paper has been accepted subject to some re-writing requests by the peer reviewers.  Such re-writing requests is normal procedure for peer reviewed publications.  Once the research paper has been published the on-line address for the abstract will be posted on this blog.

• a paper written by Tom Ryan (FWCF)  has been accepted for publication by Forge.  Forge the industry magazine for farriers and is sent to all farriers in the UK and by subscription to others around the world.  Tom has indicated that once publication in Forge has occurred he will be sending the paper to be circulated via this blog.  In his paper he deals with the issues of  hoof care to maintain quality of  life for HWSS affected ponies.

• The Havemeyer Foundation sponsored  10th International Equine Genome Mapping Workshop   is taking place in July in Portugal.   The Bannasch Laboratory will be there presenting their latest research on the HWSS issue.  Participants are invited to this prestigious workshop; just getting an invite to attend is an honour in itself.  To be one of the presenters validates the research work done to date.

• Over the summer the humongous quantity of data generated by the genomics work will be analysed in depth.  The computing requirements for such work is in the multi-terabyte arena, which is way beyond the capacity of all but a few computers in the world.  To access such a facility computer time has to be booked in advance. Booking ahead is a best guess option as to time scale and is judged on when a facility was needed in similar areas of research. As it turns out because the initial answers were so cut and dried on the HWSS project, the research has run ahead of the expected schedule. Further rapid progress has been constrained because of the need to wait for this pre-booked computer access.

• Another native pony breed with a genetic problem - The Fell has posted an update on their progress.  Their research to find the genetic marker commenced in 2005 with the mutation being located in 2009.  The test became available 3 years ago in 2010.If you wish to read more about the Fell pony research below are some links.  The process is quite proscribed. 

1. The first step is to publicise the emergence of a new condition to the veterinary profession; Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome.  
2. One then demonstrates that the problem is not confined to one geographical area but extends through the total genepool; The Fell pony immunodeficiency syndrome also occurs in the Netherlands: a review and six cases. 
3. The genetic research is performed and reported and published; Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.
4. Having found the mutation the effects at the cellular level can be established; Fell Pony syndrome: characterization of developmental hematopoiesis failure and associated gene expression profiles.
5. The outcome; Foal Immunodeficiency Syndrome: carrier testing has markedly reduced disease incidence or put another way A recent report shows what can be achieved when scientists and horse breeders work together

• When one looks at the timescale involved with the  HWSS research much has been achieved in a very short time.  Unlike the situation with HWSS, the Fell Pony Syndrome (FPS) research had the backing, financially, morally and ethically from the Fell Pony Society and the Rare Breeds Trust; it also involved a large 'buy in' from the breeders themselves. 

The Connemara Pony Research Group would like to think that the scientific progress in this research is now sufficiently advanced that all societies, breeders and owners will now take this problem seriously and start making plans on how we as a community are going to use this information to preserve and protect our beloved Connemara pony. It is our hope that the CPBS and the ICCPS will see fit to invite Dr Carrie Finno to Ireland this year to present her HWSS research at an open public forum during  the Clifden Festival in August 2013.

Feel free to offer comment and helpful suggestions on the HWSS Facebook page.HWSS (Hoof Wall Separation Syndrome)

News from the Bannasch Laboratory

A message from the lovely people of the Bannasch Laboratory at U C Davis arrived today. 

"The Connemara community has been incredibly supportive, and I know you have worked extraordinarily hard at getting DNA to the lab. Your efforts and the generosity of many owners has been very effective, and we are no longer in need of control samples." 

This is a real kudos to the people who got in behind this project, both with donations to fund the work, and those who at their own expense, rallied to the call and submitted blood samples from their ponies. The research has come such a long way in a very short space of time (from the scientific research perspective). This would never have happened so quickly without you all.

Please note that samples from additional confirmed HWSS affected ponies will still be accepted.  

To anyone who wishes to send blood samples from outside of the USA from affected ponies, you are asked to wait until further notice whilst the import permits are renewed. Once the permits have come through, a notice to this effect will be posted on the blog.

Once again, thank you to all of the people who have made this research a 'happening thing'.

New Update - some good, some sad.

Sadly another pony has had to be euthanased because of intractable hoof pain from HWSS.  This pony was bred in Connemara, purchased at Clifden and exported to Sweden.   All four legs from this much loved pony have been sent to the Farrier School in Sweden for research and teaching purposes.  She was one of the ponies whose blood sample was sent over for the part of the research which proved that HWSS is indeed genetic in origin.

It is coming up to the time of the Pony Inspections in Ireland, where in the past much purchasing of Connemara Ponies has been the norm. The genetic test for HWSS will not be available before the end of the northern summer, so any pony buyers will still need to use visual criteria to assess whether a pony is HWSS affected or not; there is no way of physically assessing carrier status.

So here are a few suggestions for onsite assessment:

• Only consider young stock and/or breeding ponies presented without shoes and without hoof black. 
• Be extremely wary of ponies which are shod and not in work.
• Do not accept any reasons/excuses about the farrier 'trimming the feet too short the last time he/she was out'.  Feet that are too short is a 'red flag'.
• Any chipping or peeling away of the outer hoof wall is a red flag.
• Pick up the feet yourself and have a look at the structure of the hoof wall between the white line and the outer hoof wall (see photo below).
• Look at the environment the ponies are living in. Boggy conditions masks the issue.
• Hoof black can be used to hide the use of hoof fillers - shod and hoof blacked 'red flag'.

For those purchasing from a distance (ie not personal inspection or through an agent) ask for not only conformation photos and videos, but close up pictures of feet - unshod and not blacked, and taken with the pony standing on concrete.

Here is a picture which demonstrates that the splitting occurs within in the structures of the hoof wall and not at the white line.  This photograph comes from a Swedish HWSS site with many good quality photographs of HWSS feet.  Even with short and newly trimmed feet (a prime method used to attempt to disguise HWSS), any sign of fissures should be classed as a 'red flag'.  Normal feet do not do this.

Other news is that the final shipment of blood samples for HWSS research  has been dispatched from Germany.  A total of 184 ponies have contributed to the population study part of the research.  Well done Germany for have such pro-active breeders and pony owners.  In addition to the samples from the Connemara ponies, samples were included  from Highland ponies and Haflinger horses which demonstrate a similar hoof phenotype to that seen and known to be HWSS in Connemara ponies.  The farriers in Germany are to be commended for making the connection with the HWSS they are dealing with in Connemara ponies owned by their clients, and notifying the German research group representative about these other suspicious hooves.  Thanks must also go to the owners of these non Connemara ponies for being so willing to send samples to UC Davis.   

IF these breeds do show up as being HWSS affected it is the hope of the research group, that their relevant breed societies will be pro-active in dealing with the issues and not emulate the 'head in the sand' attitude which has been the predominant response from the Connemara breed 'authorities' with which the research group has to date met with.

One shipment of samples from Ulster has just safely  arrived at the laboratory for the population study.  30 ponies from a wide variety of bloodlines, one of which is a Scottish bred pony.  This shipment is the only one which has been sent from anywhere in Ireland.  Thank you to this pony owner for making the effort and shouldering the cost all on your own; this is appreciated by the researchers.

The Research into HWSS – How was it Achieved??

The research into HWSS is the result of the dedication and perseverance of a few private individuals who rose to the challenge to provide the scientific evidence required to support their working hypothesis.

The research group made a tentative approach to researchers at the Bannasch Laboratory back in April 2011.  Because of the high standing worldwide that this laboratory has in the area of equine genetic research the group considered that any work performed by them would be well beyond any reproach .  

Although interested to be involved at a personal level, the researchers told us that to conduct the necessary initial GWAS required money – lots of money which the group did not have and until we could fund the study, there was little they could do to help.  However Bannasch did make the offer to the group that if samples were submitted to them they would extract the DNA and then store this for the future; an offer which was gratefully accepted.

The turning point came when Rosewood Witchcraft was taken to the Centre for Equine Health for a clinical workup. Thank you so much Darian, you had no idea what this action would precipitate. Rosewood Witchcraft's facebook page

Until 'Crafty' was 'seen in the flesh' the researchers really had no conception of just what the severity of this condition was. Photographs just DO NOT illustrate how dramatic this condition can be.

Shortly after Crafty's visit another affected pony made the journey to UC Davis.

These clinical examinations was the spur needed to get official, professional interest underway to research into the causes and origins of HWSS.

But of course 'we' still needed money – lots of money; thus this blog was created.

To all of you private individuals who rose to the occasion and donated funds to UC Davis to fund the GWAS and subsequent gene sequencing; 

THANK YOU FROM THE BOTTOM OF OUR HEARTS

it could not have happened without you.

The influx of funds to UC Davis allowed the initial GWAS to start. Because of the great start to fundraising UC Davis approached the Morris Foundation to apply for a dollar for dollar grant. This grant application was accepted and the Morris Foundation and two other sponsors are continuing to support the ongoing research.

BUT IT WAS 'YOUR' MONEY THAT STARTED THE BALL ROLLING

without the initial financial support from mainly private individuals within the worldwide Connemara Pony community the grant from the Morris Foundation would not have eventuated, nor that of the other two sponsors.

At this point the Connemara Pony Research Group would like to formally acknowledge the following organisations for their financial support of the research:

• American Connemara Pony Society
• Region 111 of the American Connemara Pony Society
• Ulster Connemara Pony Breeder's Association (previously known as Northern Ireland Connemara Pony Breeder's Association)
• Connemara.nu (an independent Swedish organisation which collected private donations on behalf, specifically for this project)

The above funds combined to approximately a  third of the total monies donated; the balance came from private individuals. Other than the official notifications received from the mentioned organisations, the research group has no information as to who made donations to the fund.

Another result of this blog is that many owners of affected ponies around the world made contact with the research group. 

One of these people was Kathy.  read her story here 

People who emailed the group were  put into direct contact with their country representative in the group. Much work has been performed by these representatives on behalf of both the pony owners and the research group. Without this input of samples from so many different countries, Bannasch could not have made progress as quickly as they have.

Blood collections and co-ordinated shipping of samples to Bannasch for DNA extraction (which each participating pony owner paid for themselves) have been made from Denmark, Germany/Austria, Canada, USA, Sweden and New Zealand.

UC Davis are now calling for further sample submissions.

NOW is the time for the 'ordinary' breeders and owners to unite and to become involved in this ground breaking research.

Contact the research group for help if you wish to be part of submitting samples in a co-ordinated response or UC Davis direct, if this should be your preferred option.

Thought for the day

"Entrenched belief is never altered by the facts".   

So true, so true; strongly held beliefs, however nonfactual they may be, rarely (if ever) are changed as the result of being exposed to the facts.  It is human nature to cling to what one believes in, for to challenge such beliefs can cause psychological harm in susceptible individuals.  

Sometimes it is considered more expedient to just accept what one is told, without challenging the status quo or the teller/s of the tale.  After all challenging one's beliefs requires introspection into many facets of the life one leads and that is way too scary for many people.

There is now much mis-information being spread 'out there' over the HWSS research.  Where people or organisations have a history of  distributing mis-information, do not expect them to be truthful in what they tell you with regards to their involvement in and support for the HWSS research project.  It was to be expected but still regretable; anything which challenges groups or individuals which exposes them to the risk of having their authority undermined, invariably results in shooting the messenger/s whilst at the same time trying to gain control over the message being delivered.  

To re-iterate once again the Connemara Pony Research Group is made up from a group of individuals who have been working together for just over one year now to get the scientific evidence to support:

1. That there is a developmental problem in the hooves of some Connemara ponies, and,
2. that this condition has a genetic cause
3. Both of these points have now been incontrovertibly proven. As regular readers of this blog will be aware the laboratory is now awaiting the data analysis from the further series of arrays which have narrowed down the area of the genome, that needs to be studied in greater detail.

The Connemara Pony Research Group is not aligned with any breed society in anyway.  The research has been independently funded by donations sent directly to the Centre for Equine Health at the University of California (Davis) by many groups and individuals.  The research at the Bannasch Laboratory (UC Davis)  has received support, both moral and financial, from societies in North America and Northern Ireland only and the group publically acknowledges our thanks to them.

Interestingly enough, when the blog author went to attribute "Entrenched belief is never altered by the facts" researches failed to find an historical context in which this was used.   Perusal of various hard copy books of quotations to no avail and thence having to resort to google (and the ubiquitous wikipedia) linked this homily only to the authorship of one Dick Francis in his novel 'Straight'.  One has to wonder from whence he learnt this very salient truth, or whether he came to this conclusion himself  and just used it as a one-liner in his book.  Either way, the truth revealed by this statement is real.

For any of the blog readers 'out there' who are not acquainted with the novels of Dick Francis then dip your toes in the water.  Rip snorting good yarns based loosely around National Hunt Racing in the UK.  Of course they are formulaeic and I swear the heroes must all have 'superman' embroidered on their underpants as they always succeed in righting wrongs against terrible odds, but they are good reads.

A Picture Story of the Hooves of an HWSS Affected Pony

This is the story of a pony in Germany.  This pony although born and reared in Germany has parents which were born and reared in Ireland and is in fact of solely Irish bloodlines.

"My pony came to me in Oct. 2009. Her hoofs naked and bad. I thought with some serious hoofcare it would go better day by day. So I tried hard for 1 year. Than I decided to give her iron shoes. The effect was, that she could go without pain for the first time. The horn growed longer and it looked really nice. See pics from Feb. 2011". 

Even though the pony was shod she still required support of bonding agents around the hoof wall but the hoof does  show a normal form.

The sole.

One shod hoof and the other hoof still to be treated.  The pony was kept pain free with diligent hoof  care.

"In May, at the end of her pregnancy, she was lame on her right front-hoof. Shoe away and we looked for an abscess. Not  one found. Bandage (see pic.). 

"This got lost and so the wall :(."

The unprotected hoof (not shod and bandage lost) disintegrated virtually overnight and this is the result.  Notice that the disintegration is between the layers of the hoof wall, not between the hoof wall and the underlying laminae as would be seen in White Line Disease.

The sole picture also shows that the breakdown is between the layers of the hoof wall and not in the white line.

Shoes and casting materials back in place. May 2011.

Then just 5 days ago (Feb 2012),  the weather changed from a period of heavy dry frost (-10--20C) to +2C and wet conditions.   A series of large chips broke and peeled from this hoof.  If you look closely you can clearly see the hoof tubules within the layers of the hoof wall.

The owner decided that something useful should come from yet another setback with the pony's feet and has photographed the hoof pieces from all angles and referenced them to a measuring tape.  The pieces have been labelled and stored in the correct manner in the owner's household freezer; just waiting for someone to take on further research on the biochemistry of these abnormal hooves.

This pony foaled in May a colt (now gelded)  His feet are absolutely normal.  This pony has sire siblings which also have HWSS.   Remember  the dam of this pony and other other affected ponies ALSO has to be a carrier; one cannot 'just' implicate the 'stallion lines' with this condition.

Thank you to this pony's owner for allowing the research group to use these photos and tell his and the pony's story.

Genetic Diseases; why some people persist in breeding animals with them.

"Genetic Diseases in dogs and cats; What can we really do about them?"  (Robson, Mark. Vetscript, June 2009, page 6. Wellington, New Zealand)

What relevance does a paper on dogs and cats have to the issue of HWSS in ponies?  

Whatever the species, the principles of breeding sound, disease free animals is the same.  One of the comments Robson makes is that "one thing we have learned from dealing with breeders for many years is that logic does not often come into decision making".

Robson believes breeders are driven by the three 'Es': ego, emotion and economics. He goes onto express the opinion that for many breeders, the prestige of winning will overcome any long-term concerns genetic problems may cause in their dog's health.  Ego takes precedence over common sense.  Strong words?  Yes, but think about it.

Years spent breeding a line of animals with a particular appearance (type) which then turns up with a genetic defect is emotionally painful as well as a blow to the ego.  "Emotion may cloud a breeder's judgement and he or she may breed from favourites even when there is mounting evidence of ill-health in the line." (Robson).
The thought that years of hard work and breeding has resulted in the appearance of a genetic defect is very difficult for anyone to accept.  Denial is going to happen, it is a normal human response and is in fact the manner by which an individual's mental health is maintained until such time as they can cope appropriately with the challenge placed before them.  Also consider the scenario where all the animals on a property are afflicted. The defect is seen as 'normal' for the people who deal with the animals on an everyday basis and they actually cannot see that there is a problem, until it is pointed out by an uninvolved third party.

People who know that there is a problem within their breed (for example in specific dogs breeds  such as British Bulldogs or HYPP positive  horses) but who choose to continue to breed affected and afflicted animals are not 'in denial' from a mental health perspective.   Choosing to  continue to breed from these lines  is  considered to be more likely to be made on economic grounds.  Robson then goes onto say "where large numbers of animals are bred, concerns about individual animals and any genetic defects are lost in the herd mentality where the dollars are the primary endpoint" and is referring in this case to 'puppy mills'.  The equivalent to 'puppy mills' are found in horse breeding worldwide.

It is not all doom and gloom though.  Many breed societies do now have genetic screening tests for known genetic problems. To reduce the incidence in the population they require the results to be included on registration papers.   With some breeds and species a single copy of  a mutated gene is considered to be an asset, but active doubling up of the gene is strenuously avoided (for example the double muscling gene in breeds of beef cattle and sheep).   In most cases involving  horses  (as opposed to commercial food animals) the work to find out what the mutation actually is, has been both led and driven by the people most affected - the breeders who have had the misfortune to inadvertently breed affected ponies; this is certainly the case with the HWSS research.

Some countries now consider that breeding animals with a known genetic defect to be an Animal Welfare Issue, dictating that to do so is an offence under that country's legislation.  Now that the genetic link has been proven for HWSS, breeders within such jurisdictions will need to be assured of the HWSS status of any ponies which they may wish to sell or purchase in the future; to not do so could make  them  vulnerable to possible litigation. 

The next step in the HWSS journey is to find the specific mutation and develop a commercial screening test for it.  Once the screening test is perfected this will also be able to be used  for other horse/pony breeds.  The research group now has notifications from several individuals with concerns that HWSS also occurs in their own breeds.

Unless a problem is of high economic significance or of national or international importance, researchers only go 'looking' when 'someone' tells them that there is a problem which needs investigation; and of course also supplies the funding to pay for the research.

If everyone who reads this blog (and there are LOTS of you) were to donate $10, that would make a sizeable dent in the money needed to get the second stage of the research under way.   The last update from the Centre for Equine Health who are responsible for administering the donated funds for the HWSS research project was that the amount still required to start the second phase was $3500.00.

You can help the researchers at the Bannasch Laboratory help us, the breeders to 'get it right' with HWSS.  Put aside Ego, Emotion and Economics and make a small donation to UC Davis donation page

Wish to know more about HWSS? Book a presentation.

The research on HWSS has more depth to it than what is shown in this blog.  Only the basics have been put on the internet because the internet is not a secure medium.  Anyone can lift  files off the net and use these for what ever they choose; although unlikely people with an 'agenda' could be tempted to use such information to their own advantage and not for the greater good which is the aim of this research group.

Jocelyn Garneau-Davies was invited to a meeting of the American Connemara Pony Society to talk about HWSS which happened on Friday 13.  For this meeting the group put together a Power Point Presentation with a much greater degree of information.   The people present at the meeting found that the information which they saw greatly helped them in their understanding of the whole HWSS issue. 

The group has repesentatives in most countries.  If your Breed Society, farrier/podiatry or equine group is interested in hosting such a presentation then email us.   Translations still have to be made into other languages, so please do not try and book a presentation for 'next week' :)

The results from the Genome Wide Association Study

This morning the results from the GWAS arrived in the inbox of the Connemara Pony Research Group; much earlier than was expected.  The reason they came in early is because there is no questioning the results. There is no doubt that the DNA of affected ponies and their close relations (parents, full or half siblings) is very different from both  the 'control' Connemara ponies and the Horse Genome Map.

This area of difference is call a 'candidate region'.  The candidate region which has been determined by the GWAS is in the area where the genes for keratin metabolism have been mapped.

Keratin metabolism controls how hoof, hair and horn grows in all mammals.

We now know definitely that there is something different happening in the genes of  HWSS affected ponies.   The area where this difference occurs supports the working hypothesis for HWSS.

Where to now?

The next stage requires the candidate region of all the 'positive' ponies in the GWAS to be investigated at a more refined level.  We now know where to look and now need to look much more closely to find out what is actually happening in the genes in the candidate region.
To conduct this research, of course requires more funding.  The Centre for Equine Health already holds the balance of the donated funds, not used to pay for the initial GWAS.
With this money already in-hand, the next stage of the research requires another US$8000.    The research group and the Bannasch Laboratory are hopeful that people will support this next stage of the research by making donations to pay for the sequencing of  the candidate genes.

You can make your donations here http://www.vetmed.ucdavis.edu/ceh/give_online.cfm

Bannasch Laboratory also wishes to let pony owners worldwide know that they now want more samples from HWSS affected ponies and control ponies.  The first point of contact for pony owners who wish to become actively involved in this research by submitting blood samples to the laboratory is the Connemara Pony Research Group       connemara.pony.research.group@gmail.com

Best Wishes for 2012

2012 will hopefully bring to us the resolution that we wish when the GWAS is completed and analysed.  

In the meantime Best Wishes go out to all, for the New Year of 2012 from the team at the Connemara pony Research Group.

How to Make a Donation to Support HWSS Research

Readers of this blog will already know that the Bannasch Laboratory at UC Davis has already commenced the SNP arrays to find the genetic mutation which causes HWSS.     This is but the first stage in the process required to develop a diagnostic test for HWSS.

The array has for the most part, been financed from private donations.  There has been a small funding grant received but this was not as much money as what had already been received from donors.   To carry on with the second stage of the research a further $US5000 is needed.
The research group has had many requests asking what is the best method to donate funds.
The Centre for Equine Health (which the Bannasch Laboratory is part of) has the giving page.



One of the research group members tried the system out, and it works.
UC Davis donation page

On the above page you will see a link to a secure page.  Follow this link and you will see the following:

You need to specify where the money is to go:

CONNEMARA DNA RESEARCH

and the person who is to be notified that a donation has been made:
DR CARRIE FINNO


The information above needs goes in the boxes on the far left of this screen (sorry cannot put arrows in to show you where).
The long thin field is where the Connemara DNA Research Fund goes.
The smaller box below: Dr Carrie Finno.















If credit card transfers are not your preferred method to make a donation  then you can send a cheque to the Center for Equine Health, One Shields Ave, Davis, Ca 95616. 
Send a letter accompanying the cheque stating that the donation should be directed to Connemara DNA research.


THANK YOU.

Genetic Diseases in Quarter Horses and Related Breeds and what we can learn from their research if we choose to do so.

One of the members of the research group found this very informative and comprehensive paper.   It is well worth taking the time to read it.   The link to the original article is below.

It is not only the QH and  the derivatives which have a suite of genetic disorders which thinking breeders need to be aware of.
Arabs have SCID, Lavender Foal Syndrome and Cerebellar Abiotrophy all of which are fatal conditions.
Fell Ponies have Immunodeficiency Syndrome (Fell Pony Syndrome - FPS) and not to be confused with SCID - fatal.  Recent research shows that the Dales ponies have a 17% carrier level for FPS in their population.

Warmbloods have EPSSM (also called PSSM - see article below), Recurrent Airway Obstruction (ROA) and OCD.

Belgian Draughts have connective tissue disorder similar to but not the same as HERDA.

All of these conditions have diagnostic tests available so there is no excuse for any person to breed two carriers and produce affected progeny.

Genetic Diseases in Quarter Horses and Related Breeds

by Heather Smith Thomas

EC July/August 2009

During the past two decades, research has shed light on a number of important genetic diseases in horses, including several defects that appear in Quarter Horses and other breeds that have utilized Quarter Horse bloodlines. Some of these diseases have cropped up in recent years, originating from mutations in popular animals. Thus the new trait was perpetuated in numerous offspring. Mutations are common in humans and animals, but generally don’t cause problems because they are greatly diluted in a very large gene pool. If the genetic change occurs in an animal that has hundreds or thousands of descendants, however, this may affect a wide number of horses.

Some mutations that have caused concern include HYPP (hyperkalemic periodic paralysis), first identified in 1985 and eventually traced back to the Quarter Horse stallion Impressive. Another serious defect, originally termed hyperelastosis cutis and also called HERDA (hereditary equine regional dermal asthenia) was first documented in the late 1960s and finally traced back to Poco Bueno. More recently, a muscle disorder called GBED (glycogen branching enzyme deficiency) was recognized as a killer of foals, causing late-term abortions, stillbirths or weak foals that don’t survive very long.

Some disorders are due to fairly recent mutations like HYPP and GBED, while others—like the muscle diseases that cause “tying up” episodes–have been with us a long time, maybe since the Middle Ages. Muscle cramping associated with exercise, or with exercise after a period of inactivity, has been recognized for more than a century. Terms such as azoturia (referring to dark urine), Monday morning disease, exertional rhabdomyolysis, etc. have been used to describe this abnormality and, in recent years, researchers have found there are several forms of this syndrome, with different causes.

The number of visitors to the blog keep on RISING and are way above expectation

The reaction to the information released through this blog has been dramatic and way more than what the group expected.

Of course now the contrary points of view are being aired. This was to expected and is in fact a sign of a healthy community.  The major counter argument being offered to this blog and the research group in general is that "we" have now caused 'irreparable damage to the reputation of the Connemara Pony worldwide'.


On the plus side though there has been far more responses along the following lines, than to the negative response like above:

" 'image of the breed be damned' - there are now too many cases where owners who now have or had affected ponies have been put in contact with each other because this group has gone public on the issue.

Their stories are heartbreaking, and typically involve years of frustration, anger, recriminations, and expense;  without exception they've been made to feel that the state of their pony's feet is THEIR FAULT.

By going 'public' these people have been able to find that they aren't alone, that its not because of some personal negligence on their part, and that while there may not be a cure, that at least they now have a name to hang the problem on. 

By going 'public' there have been many more affected ponies identified.  This shows that it is not  uncommon, unlike what the breed societies would like everyone to believe. " 

ON A MORE POSITIVE NOTE

The group hopes shortly to assemble a document which will be a collection of  'what has helped and what made no difference' for HWSS affected hooves.  There is little point in each owner having to re-invent the wheel.   Combined knowledge gives strength.

One piece of information which could be very relevant immediately, is that any feed formulations - such as Farrier's Formula, appear to require much longer treatment times than what would be seen in a normal hoof.  Also the improvement it will make will be much less than that seen in a normal hoof.   

The biotin research conducted on the Lipizzaners of Piber Stud and the Spanish Riding School (Josseck et al 1995) showed that the average response time for any improvement was 33 months.  This is way in excess of the time it would take for complete renewal of the hoof wall.   These researchers also concluded that there was a genetic component involved in the foot problems seen in this strain of Lipizzans.   Another project conducted in the UK (Reilly,) looking at the use of Evening Primrose Oil  to improve hoof quality (this time using Irish Draught xbreds) showed a very extended length of time before any positive response was detectable.

Pony feet, the researchers have informed us grow at a slower rate than horses.  So one would expect an even slower response rate to feed supplements such as FF and EPO. 

None of the HWSS ponies which were put onto feed supplements for hoof health were treated at a clinical level for more than 24 months before the owners were advised to euthanase them so there is no information available as to whether feed supplements do help with modifying the effects of HWSS.

Another idea which has been put forward by a biochemist is that it may be worth looking at utilising  the polymers which are UV activated and are used in human medicine and dentistry, as a method of  improving the quality of the  permeability barrier on the hoof.  The fact that these are medical polymers would indicate that they are inert in biological systems.

Hopefully there will be people with such expertise in our readership who may be be able to give an opinion on this matter.  email us connemara.pony.research.group@gmail.com if you have any ideas or advice you wish to share.

Thank you

A picture of HWSS in a purebred Connemara pony in the UK

This blog has an in-built statistics facility which gives information about from which countries people log into this site.

It has been very intriguing that the lowest 'hit' statistics are from a country with one of the highest populations of Connemara ponies in the world.  
Any  idea that people may have that HWSS does not exist in this country should look at these pictures:

this foot is not the result of neglect, wet conditions/dry conditions/incorrect feeding, or poor farrier skills.

These pictures are now also up on the O A Curtis farriers face book page;

O A Curtis - farriers

Sandra Mesrine is it a connemara pony?
O A Curtis Farriers How did you guess?
Sandra Mesrine ‎:)

Exciting Exciting NEWS. SNP Arrays to commence

Today I have received confirmation that there has been sufficient donations received by the Centre for Equine Health (UC Davis) (CEH) combined with a small grant, that the first stage of the Genome Wide Association Study (GWAS) is ready to start at the Bannasch Laboratory.
This is such exciting news that we have progressed so far, so quickly.
From the researchers at Bannasch Lab I received this today:

"We are still interested in donations for the 2nd stage of the project (either SNP genotyping additional samples or sequencing a candidate gene/region).
I am waiting on 9 more unaffected distantly related control samples to come in this week and then we plan to send out the DNA. We should have the results before the holidays and some preliminary information by the end of the year."

The next stage of the project requires $5000.

The research group has no idea who has donated money via CEH for this work to commence so promptly, but we thank you from the bottom of our collective hearts.

For those of you who wish to know more and to understand what is about to happen


The whole process involves looking for areas on a gene (or genes) which are different from what the reference genotype shows.   There are breed differences so that it why the genome of non-related ponies are needed to compare the genes of the affected ponies too.  In other words there can be specific genes which are not on the reference (library copy) of the horse genome, but which are in fact totally normal in another breed.

Because we already know what the problem is at a functional level, then the genes influencing lipid metabolism in hoof (keratin) structure is a an area for possible candidate gene(s) or a region within one of the keratin coding genes.

Hoof Wall Separation Syndrome

Hoof Wall Separation Syndrome (HWSS)

Over the past 15 years there has been increasing awareness worldwide of a problem with the hoof structure in a subset of our beloved Connemara Ponies.  

With advances in communication, owners and breeders of affected ponies have come in contact with each other, and have recently formed the CONNEMARA RESEARCH GROUP dedicated to having serious scientific research done on the disorder, which the group has called “Hoof Wall Separation Syndrome (HWSS)”.

The condition has been identified in several different countries, in both local and imported stock. - not 'one' country nor one bloodline.   Currently HWSS is still not recognised by the breed societies but we are working hard at educating and spreading the word of this serious condition. 

Hoof Wall Separation Syndrome results in the weight bearing borders of the hoof wall breaking away from the underlying structure which then leaves the pony to bear weight on the sole of the hoof. This appears to be a congenital condition, if the pony is going to have this condition, it will be born with it, and it can be seen in foals as young as 2 -3 weeks of age.  It is not an acquired condition.  We are unsure why, but there seems to be consensus that there are degrees of severity with this condition; some can be managed and some of these ponies need to be euthanized. Environment and nutrition may be contributing factors, but do not appear to be the cause.  

 

Robert Eustace of the Laminitis Trust (UK) originally described the condition as “coconut-matting hooves” as the borders of the hoof wall appears rough and frayed.    Hoof samples of affected Connemara Ponies which had been referred to the Trust for treatment were analysed at the University of Edinburgh, where they found a malfunction of lipid metabolism in the extracellular matrix of the hoof wall between the tubular structures of the hoof wall.  In simple terms, there seems to be a lack of 'waterproof glue' holding the hoof wall tubules together. 

Figure 1.  Seven month Connemara filly with HWSS showing typical lesions.  This pony is walking on the sole not the wall as is normal.

Figure 2.  The peeling walls near the bearing border.  Note the abnormal periople and the lack of shine on the hoof wall indicating that hoof wall is permeable.

Figure 3.  The calloused sole typical of HWSS and the result of walking on the sole.  If the callousing is left alone the pony will stay paddock sound but usually not capable of any work.

If the condition is caused by a simple recessive gene (which is the current hypothesis), this means it can only occur when two carrier ponies are bred to each other.

If pedigree analyses turn out to be correct, then carriers of the condition are likely to be extensive and widespread in the Connemara breed.  To prevent further breeding of affected ponies, a genetic test is needed for screening breeding stock.  Such a test would allow, over time, the level of HWSS within the population to be reduced or eliminated without compromising genetic diversity.   Genetic diversity is a concern with an already small gene pool.  In other words, we wouldn’t have to throw the baby out with the bath water!

The horse genome was completely sequenced in 2007, and since then there has been rapid progress in locating and mapping genetic markers.  UC Davis was approached by the research group, and has agreed to undertake a Genome Wide Association Study (GWAS) to attempt to find the faulty gene responsible for the condition. 

Care is required that only ponies with true Hoof Wall Separation Syndrome are included in the study, and there are protocols already in place for identifying ponies, and submitting materials for research.

Additionally, work to either confirm or disprove the proposed lines of inheritance will be done on the pedigrees of affected ponies.  The work will also establish an estimate of the percentage of carriers within the worldwide population of the Connemara Pony Breed. 

The research group now has the support of some highly respected research groups, but now needs funding to make further progress.  The cost of performing a Genome Wide Association Study on our Connemara Ponies is USD $13,000 for the first phase and another USD $5,000 to analyze the data.   Donations from breeders and societies would be greatly appreciated!

A Research Fund has been established and people can send their donations to the Center for Equine Health, One Shields Ave, Davis, Ca 95616. They should send a letter accompanying their cheque stating that the donation should be directed to Connemara DNA research.

This report is a brief overview,  For more detailed  information, please contact the Connemara Research Group.   All information, ponies & people are kept confidential. Our e:mail is:  connemara.pony.research.group@gmail.com