Tuesday, 29 November 2011

Waiting is difficult..

After working on this project for so many years, the final few weeks of waiting for the preliminary results to come through from the GWAS is proving difficult.
Bannasch Laboratory has told us expect these results 'sometime' during the first week in February.
What we are hoping to see in these results is that on the Connemara Pony genome there is a 'region of interest' which shows up ONLY in the known affected and known carrier ponies.

This region of interest will then require closer investigative work to be conducted to establish exactly what is 'going on'.

"Good things come to those that wait".

Sunday, 20 November 2011

Preliminary Results on the Genome Wide Association Study, for HWSS in the Connemara Pony

The official word from the Bannasch Laboratory at UC Davis is that the first results from the study are expected to be available in the first week of February 2012.

We have come a long way in a very short space of time.
The acceptance that HWSS is a distinct hoof condition has increasing support from equine professionals worldwide.  Input from farriers especially has been superb; these people are the ones who have been dealing with the problem at the 'coal-face'.   These professionals are themselves relieved that  others in their profession worldwide have been challenged by such an intractable hoof problem.  Reports have now come in informing the research group that a very similar hoof condition is noted as occurring with another minority native breed.

However to be successful in obtaining a diagnostic screening test for HWSS requires that Stage Two of the project can flow seamlessly from the results of Stage One.   Stage Two still requires more funds to make this happen.   The link to the donation page is here. http://connemara-pony.blogspot.com/2011/11/how-to-make-donation-to-support-hwss.html

Further information is also coming to the research group from owners and breeders around the world about their own experiences with attempting to treat the hooves of HWSS afflicted ponies.   The aim is to get a list posted on the blog of what people have found helps in keeping their ponies as sound as possible.

A 'don't try this it made things worse/made no difference and cost mega-bucks' scenarios will be included.  Owners can then make up their own minds as to what may just help for ponies in their situation.

Tuesday, 15 November 2011

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:


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

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 HealthOne Shields AveDavisCa 95616. 
Send a letter accompanying the cheque stating that the donation should be directed to Connemara DNA research.


Sunday, 13 November 2011

The Heartbreak of HWSS - up close and personal.

See the page on the sidebar

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
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.

Friday, 11 November 2011

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. " 


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

Thursday, 10 November 2011

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 ‎:)

Tuesday, 8 November 2011

How HWSS has really affected so many people and their ponies

HWSS was unofficially brought to the attention of  some ICCPS delegates during a break in their technical meeting back in 1998.   Sadly for the breed as a whole and for specific ponies and owners, the information supplied then was not heeded.

Human nature being what it is, people will have wanted to protect their own interests, so the 'don't want to know' attitude is not surprising.

But what have been the true costs?  Consider the following.

HWSS has not been talked about openly - there has been plenty 'talking behind the hand' in some areas BUT for the most part until now, owners and breeders have been on their own dealing with this issue.

OWNER GUILT is one of the prime psycho-social effects of  having to deal with such a problem in isolation.   Up until now there has been no support group to turn to.  The level of denial to there even being a problem is also very high.   Owners feel guilty that something they have or have not done in the care and welfare of their pony (ies) is the cause of this debilitating hoof condition.   The farriers and veterinarians have had no knowledge of the condition and have been treating these ponies for all manner of pathologies - usually White Line Disease (WLD) or fungal and bacterial infections.   All at great cost to the owners and with no or little positive results (thankfully this is now changing with prominent veterinarians, farriers and hoof experts following the progress of this research).

Just think about the effects on such an individual who has bred 4 such ponies and has been struggling on in isolation to do the best for them?   To suddenly be made aware just a matter of weeks ago, that there was research happening this area and that the hypothesis is that it has a genetic basis, was an overwhelming relief for this person.
Actually there are 4 such pony owners - this is not some hypothetical situation - who have come forward in the past month from 3 different countries, and whose ponies have supplied blood samples to the Bannasch Laboratory for the GWAS.   These owners have met all the collection costs and FedEx expenses from their own pockets; the research group and Bannasch are so grateful to them for doing this.

Sadly there is no cure for HWSS; some cases can be 'managed' but some ponies are so severely affected that  the only 'cure' is euthanasia.  Sadly for one of the four people mentioned above this is the outcome for another lovely pony (yes there have been more ponies from the same person who have had to be euthanased on humane grounds, even with the best of care) .   Except that THIS time the owner, the veterinarian and the farrier all had an idea about what they were dealing with.

This pony will add much information to the research project as all four legs (hooves) and other tissues have been sent to UC Davis and are undergoing pathology testing.  The preliminary results confirms that these hooves do NOT  have the pathology seen with 'normal' hoof  structure.

There is a great amount of scuttlebutt presently zipping about the interwebs on HWSS.  The number one take away message is:
This is NOT a curable condition in but some cases it can be managed so well that the pony can live an active and productive life.  


  • The ponies who are being reported, via the scuttlebutt, to have been 'cured' have in fact been euthanased.   
  • It is a worldwide problem and definitely not restricted to any one country.   
  • It IS more common in some countries and some areas within certain countries.
  • Don't point the finger at other people - you too could well have a carrier pony standing in your paddock/barn.  You have either not yet bred it OR have lucked out and 'won' the 50% lottery.   (carriers have a 50% chance of passing the defect on to their offspring - simple Mendelian genetics predicts 1:4 ratios of affected to non affected offspring when two carriers are mated). 
Become part of the SOLUTION.
  •  Help with donations to Bannasch.  
  • Contact this group if you have an affected pony or have bred an affected pony.   Part of the research involves building family trees.   The database is already large with over 21,000 individual ponies listed from all over the world but more information is required.

Monday, 7 November 2011

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.

Sunday, 6 November 2011

Testimonials from Breeders and Owners of HWSS affected ponies

“I now know that of my four breeding ponies, three were carriers. These ponies were not purchased from one breeder, but from all parts of the US with very different "recent" bloodlines.  This indicates to me that it is not a rare problem but is becoming more widespread.” Breeder A, USA

Saturday, 5 November 2011

Hoof Wall Separation Syndrome

Hoof Wall Separation Syndrome Hoof Wall Separation Syndrome (HWSS) (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 lesionsThis pony is walking on the sole not the wall as is normal.

Figure 2.  The peeling walls near the bearing borderNote 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 soleIf 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 poniesThe 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