Dr Carrie Finno Receives an Award for Her Research

Dr Carrie Finno is the lead researcher who worked upon finding the genetic basis to HWSS for us.  She also was part of the team which found the genetic cause of HERDA.  

This year's James M. Wilson Award was presented to Carrie Finno, DVM, PhD, Dipl. ACVIM, for her work on neuroaxonal dystrophy (NAD), an inherited neurologic disease that affects all breeds of horses. The Wilson Award is given each year to an outstanding equine research publication authored by a graduate academic student or resident in the UC Davis School of Veterinary Medicine. Finno received the award for her publication, "Electrophysiological Studies in American Quarter Horses with Neuroaxonal Dystrophy."
You can read the full article here:
Dr. Carrie Finno Receives 2012 Wilson Award

The Connemara Pony Research Group congratulates Dr Finno on this award.   Here is hoping that in 2013 she wins another one for her work on HWSS.

Thank you Dr Carrie Finno for believing we did have an issue with the hooves in our Connemara ponies and then taking on our research project.

Presentation by Dr Carrie Finno on HWSS

On 13th October 2012 Dr Carrie Finno presented the outcome of her research on HWSS to the members of the American Connemara Pony Society at their Annual Meeting.    The presentation was well received by the audience.  For many of the participants this was the first information that they had seen with regards to the reality of  HWSS.  It is difficult when working on a project to not become submerged in the topic and remember that something which has taken up a good amount of one's own time, is often not known about in the wider community.  

A call was made at the meeting for further blood samples to be submitted for the study. One hopes that owners and breeders will rally to the call.  This has certainly been the case in Germany where the representative of this group has today dispatched samples from a further 28 ponies.  Another shipment is planned so if you and your ponies live in Germany and you would like to help to be part of the solution to the HWSS problem, contact the group and your details will be passed onto the person coordinating the shipments.

If there are any Connemara people in France or the UK who would be prepared to help by shipping blood samples we would really like you to contact the group.   France and the UK are the two largest Connemara pony breeding nations after Ireland. Both countries have tended to concentrate their breeding programmes on bloodlines that are less popular than those in other European countries.  It would be very interesting (and possibly advantageous) to be able to screen these populations also.

Dr Finno has kindly given permission for  a pdf version of her presentation to be posted on this blog.   Of course the pdf contains the slides only and thus does not have her explanations and commentary to explain some of the points made.  Dr Finno. HWSS Presentation 13th October 2012

In the presentation Dr Finno: 

• explains the signs of HWSS
• shows the feet of two ponies which were examined at UC Davis Veterinary Medical Teaching Hospital.
• Shows the cross-section of an affected hoof.  The lesions shown there are 'typical' of all HWSS cases.  It shows quite obviously that the breakdown is within the layers of the hoof wall and does not involve the white-line in any way.
• Genetic terminology, modes of inheritance and where HWSS fits in the wider scheme of things is explained.
• on the bottom of slide 23 is an ambiguous, to those not at the meeting, sounding statement.  The explanation is that there is no record of any person breeding two affected ponies together so the outcome of such a mating is not known. 
• HWSS is autosomal recessive; other autosomal recessive conditions in horses are discussed.  Dr Finno was one of the principal people responsible for finding the genetic marker for (HERDA) and getting this commercially available to breeders.  Also discussed is Glycogen Branching Enzyme Deficiency (GBED) and Overo Lethal White Syndrome (OLWS).
• Explains how genetic research is undertaken.  Slide 39, point 3 explains why more samples are needed.
• Explains what you can do to help to eliminate HWSS from the Connemara pony population with no loss of genetic variation.

Samples are still required from normal, non-HWSS affected, Connemara ponies

Several more enquiries have been received from people willing to help with the research at UC Davis by submitting blood samples from their ponies.  If everyone who has requested the submission forms, collection/shipping instructions and the import permit (for outside of the USA) send their samples, then the closer Bannasch Laboratory will be to having the numbers required to meet the testing protocols.

Samples from unaffected ponies are needed and wanted; there has been no shortage of submissions from affected ponies.

Time to step up people - ponies whose samples that are used in this research will be issued with a report at the end of the research.  The end of the research will occur well in advance of the test becoming available commercially because of legal/patenting issues.

So get in now and be ahead of the rest.  This opportunity could be especially relevant to owners of stallions standing at public stud or to owners who regularly sell their youngstock at weaning.  All this will cost you is the collection and shipping costs, and your time.

Private message the research group to obtain the paperwork required to submit samples.

As an 'aside' the group often gets queries about whether HWSS is present in other breeds.  It has always been the group's opinion that, yes this problem does occur in other minority breeds, but that it is the Connemara breed which has acknowledged that there is a problem and has stepped up to the plate to do something productive and useful about the issue.

So to the list of breeds with authoritative reports of a hoof condition which appears similar to HWSS, we now add Haflinger.

Today is the equinox - for those in the southern hemisphere this means the glory of Spring and rebirth.  For those in the northern hemisphere, the time when the day length really begins to telescope and for those in the colder climbs the onset of the challenges of  Autumn (Fall) and Winter.

Best wishes to all, whichever hemisphere in which you and your ponies may reside.

It is Official - More Samples required for HWSS Research

It is Official - 

UC Davis requires/needs more samples to continue with their research into the causes of HWSS.

Whole blood samples are required from both unaffected and affected ponies.

Submissions from affected ponies require high quality digital photographs to accompany the blood samples.  Where possible a full medical history is also desired.  A farrier's report could also be useful.

If you want your ponies to be part of this research project you need to contact UC Davis OR the Research Group to obtain the correct submission forms and the sample collection protocols.

Samples from outside of the USA will require an import permit which can be obtained from UC Davis or the group.

UC Davis have not indicated how many samples they need BUT let us, the Connemara community, show how important this issue is to the health and welfare of the breed and get as many samples as possible to UC Davis as quickly as possible.   

They need more samples to go onto the next stage of the research. Until they have enough the process will slow down dramatically.  Some of the research equipment used runs in cycles with 48 samples per cycle.  A run does not  get wasted  by loading less than the optimum number of samples; it all comes back to economies of scale.  So until there are enough samples for a 'run' all must wait.

Both UC Davis and the group look forward to having our in-boxes flooded with requests for submission documentation and import permits.

The contact details for UC Davis are on their poster Here is the link to UC Davis

Putting email addresses directly onto the blog, sadly invites the attentions of spam crawlers, so you will need to go directly to the UC Davis page to get their contact details.

Breaking News - HWSS is Official

It is Official!!

Because of the close relationship between the HWSS Research Group and the Bannasch Laboratory, UC Davis, we have been aware for sometime of the progress that has been made, and now we can share this publicly.

The very existence of HWSS and that it is of genetic orign of it has been questioned by many people throughout the Connemara Pony breeding world. Those who have not seen or personally experienced the condition are reluctant to accept that such a serious problem could be lurking within their beloved breed. Understandably the recurring call has been the need for scientific proof that this is not simply an environmental or management issue, but a genetic one. Now because of the dedication of a number of breeders and individuals throughout the world, we have that proof! UC Davis has released the following information into the public domain.

Here is the link to UC Davis

While this may only be the first official statement regarding research into HWSS, we believe that now is the time for an open acknowledgement that there is a cause for concern, but that there is a way out of the situation.

The ICCPS Annual General Meeting is coming up, as is the Technical Meeting. With so many delegates from breed societies around the world present for these, the research group group sincerely hopes that the UC Davis release on HWSS is enough scientific proof to acknowledge the condition, and start a constructive discussion on the issue.

For further research to continue, UC Davis needs the help of Connemara Pony owners and breeders worldwide. They need more samples from ponies, and the sooner they get them, the sooner we will have a test for the condition. The ICCPS are in a unique position to facilitate this. An education campaign to the daughter breed societies would rapidly add to UC Davis' collection of samples. Additionally, breed societies could vastly aid breeders and owners by coordinating the collection and shipment of blood samples to UC Davis. What a huge pro-active and positive step for the breed that would be!

The Connemara Pony community needs to start talking now about how to deal with the problem when a test is commercially available. There will be a time lag between the research phase being completed and when testing becoming commercial available, but that should not stop us from calmly, and rationally, discussing how this issue will be managed to the betterment of the breed.

We are not the only breed society to have faced such issues - both the Fell Pony breeders and the New Forest Pony Breeders have faced similar problems over the genetic issues in their respective breeds. And like the conditions in the above breeds, we do not believe that HWSS will be limited to just the Connemara Pony - this research will likely benefit horses worldwide.

We know the test is coming; let us as a cohesive community be positive and ready. Let the Connemara Pony community worldwide be ready and waiting to embrace the new technology as soon as it becomes available.

GET TALKING – KEEP POSITIVE AND EVERYONE WILL BENEFIT

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.

Vale for 'Duncan'

Duncan was euthanased yesterday, (northern hemisphere time, Thursday) after much heart searching on the part of his owners and the advising professionals.  His owners have given the research group permission to tell his story here.

Duncan was born in Ireland.  He was purchased as a yearling with the intention for him to be the next stallion for the stud.  His bloodlines were intended to bring in several 'outcrosses' ('new blood') to the local Connemara pony breeding population.

When Duncan arrived at his new home his hooves were very short but otherwise looked 'normal'.  Not long after his arrival however it became very apparent that there was a problem with Duncan's feet as they began to chip and peel.  His owners contacted their veterinarian for advice and so began the hoof dis-infection, antibiotic, feed supplementation, special shoes, hoof bonding/casting, despondency, treadmill that only those who have had an HWSS affected pony can attest too.  When none of these interventions resulted in an improvement Duncan was referred to the local veterinary school, where along with the in-house specialist farrier, more aggressive treatment began.  There had to be something that could be done for this pony, right?

Then serendipity and a degree of networking brought answers to Duncan's owners (and the people at the veterinary school) when this blog, the work of the research group  and Bannasch Laboratory was brought to their notice.  Duncan was promptly enrolled with the Bannasch Laboratory at UC Davis and his blood samples and other relevant information was dispatched in time, to be included in the second stage of the research.

Now Duncan is adding a unique postscript; two of his hooves are going to Amercia while the other two remain with researchers in his home country.   Hopefully his death will not be in vain and what is learned from his feet will, in the future stop any more ponies from being born with this condition.

Duncan became the 'poster boy' for HWSS in his home country.  There are excellent pictures here of Duncan's feet at various stage throughout the 2 years of his life he lived with his owners.  He never was able to be made sound regardless of what was done for him.

For those with the understanding of DNA technology the intention is to try and isolate the mRNA from the coronary band of the affected hooves to find out at what point of the keratinsation process in the hoof tissues that the defect begins.

An update on the progress of the DNA research came through today.  The researchers are now looking at specific genes, not just areas on the genome, previously referred to as 'areas of significance'.  The original GWAS found the areas of significance.  These areas were then sequenced more fully and the areas needing closer scrutiny reduced to 15 genes.    Now the results from the first of three of the 'most likely to be implicated genes' are through.  This sequencing has narrowed down the area of interest even further.  The next two candidate genes are to be sequenced in the next few weeks.  

Several genes can code for just one 'thing' hence the need to look at all of the 'suspect' genes. The hope is that by comparing the combinations of these sequences this will show the exact location/s where the mutation/s on the  gene/s  is/are occurring.

The 'good news' apart which Bannasch has delivered today, our condolences are extended to the owners of Duncan and the members of the research group thank them from the bottom of our hearts for making the difficult (as in logistics as well as emotional) decision to donate Duncan's feet to the two universities.

Kia Kaha

We are not alone in dealing with evolving genetic disease....

One of the members of the research group posted this Myotonia in New Forest Ponies onto the group noticeboard, with the additional comment that all Dutch stallions are being tested and that the Swedish breeders are following suit.  Myotonia is a much more 'dramatic', scary to see disease, than that of HWSS; any readers who have seen the videos of the 'fainting goats' on youtube will understand just how dramatic and the implicationsfor survival are, for a horse or pony.

The New Forest pony, like the Connemara Pony has a reducing genepool.  As genepools condense the rising incidence of homozygosity results in a concomitant increase in the emergence of  previously unexhibited genetic defects.

On the HWSS research, we await the results of further DNA research on a specific area of the genome.  While this is happening the scientists at UC Davis are also working to extract the mRNA from the hooves of affected ponies.  This work is to try and establish which proteins are being coded for in which part of the hoof.  Once again it is a waiting game.

Sent us an email and not had a response??

The research group has over the past two months been contacted by several people from various parts of the world with notifications of new cases of HWSS.  Replies have been sent (in some cases with suggestions on management issues) to every query made to the group.   None of these people have subsequently made a reply or made further contact.   As the research group uses a gmail account it is possible that our replies have been automatically filed into a recipient's spam folder.   Please, if you have emailed the research group and not had a reply, please a) check your spam folder and b) email the group again and let us know that you have not received a reply to your intial email.  A reply will have definitely been returned within 24 hours of receipt of the original enquiry.  

Thank you

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.

Thought for the day

• "All truth passes through three stages. First, it is ridiculed. Second, it is violently opposed. Third, it is accepted as being self-evident." - Arthur Schopenhauer (1788-1860)
  
  
• "First they ignore you, then they laugh at you, then they fight you, then you win." - Mahatma Gandhi (1869-1948)

Good news, bad news and interesting news

Good news update: blood samples from a further five HWSS affected ponies have been processed by the Bannasch Laboratory.  The analysis from these arrays is not yet complete, however early indications are that the areas of significance on the genome will be greatly reduced.  Instead of having a 'scattershot' approach to the molecular search, the specific area/s of interest are now being pinpointed.  This work cannot be hurried; we all need to await the outcome with grace and patience.

Bad news update: not the type one ever wishes to report.  The group has been notified that two HWSS affected fillies have recently been euthanased; both were profound cases of  HWSS.  These fillies were euthanased on humane grounds after advice from the owner's veterinarian and farrier.  The fillies had both been under the care of the care of these professionals since they were 3 months old.   

The veterinarian (under request from the owner) performed a post-mortem on both ponies.  This report, plus various body tissue samples and the legs from each pony were sent to the Centre for Equine Health at UC Davis for in-depth analysis.  

Let us hope that the lives of these two fillies will not have been in vain and that through the generosity of their owner in sending samples and body parts for pathology, will help successive generations of the breed.  The condolences of the research group members go out to this owner on the loss of these ponies.

Interesting news update.  This is interesting news from the academic and research perspective but probably will be seen more as a bad news post for the Connemara pony community at large.

Notification to the research group of the first clinical case of HWSS, has just this week, come in from yet another new, country.  The research group was already aware that HWSS was in this genepool but only because of the ponies which have been exported from this location that have gone on to produce HWSS offspring in other countries.   

For example, to date the only clinical case of HWSS in New Zealand is in a imported in utero from this country but, born in New Zealand, pony.  To say the least, this was a surprise to all at the time.  It also has to be noted that this in-foal mare was imported to New Zealand well before existance of the HWSS condition was being acknowledged in the wider Connemara pony population. 

What is extremely interesting from the pedigree research perspective is that in each of these  ponies from this new country, looking at their four generation pedigrees they have nothing in common with each other.  It is only when one is able to look at extended pedigrees that the probable lines of descent become apparant.  

The hypothesis behind the transmission of HWSS, as you are now all well aware, is that it is a simple recessive progression; it can pass through many generations without it ever being expressed.  To date there are (to the members of the research group) well known and obvious patterns of inheritance which appear in affected HWSS ponies.  For the most part these are 'close-up' in the pedigrees of affected ponies and quite obvious within a 4 generation pedigree.  However with two of the 'new' carriers and the one recently notified HWSS affected pony, the already known lines of descent do not appear until  6-7 generations back in the pedigrees.  

This indicates that HWSS came into this 'new'  country  with the early imports of the 1960's and 1970's and that the condition was already widely spread within the Connemara populations from Ireland and the UK.  

With the contraction of the genepool towards a more homozygous state (as is happening with the Connemara breed worldwide) then statistically one expects to see a rise in HWSS affected ponies in this particular country.

Other news: Blood samples from clinically affected HWSS ponies have recently been sent to the Bannasch laboratory from Denmark, Germany and Sweden.  Thank you to the pony owners who at their own expense had their ponies inspected, identified and blood sampled by a veterinary professional, provided the high definition photographs of the hooves and then also paid the shipping costs to the Bannasch Laboratory, UC Davis.   Sending biological samples between countries is a very involved, precise and expensive process.  Thank you to those people.

New Zealand breeders have sent over a consignment of  blood and hair samples from 39 ponies.  This shipment included the one HWSS case, the dam of this case and a normal half sibling.   

New Zealand is in a very interesting position genetically.  The ponies in this country are for the most part even more closely related to each other than seen elsewhere in the world.  This is the result of geographic isolation and the prohibitive cost of importation.  The genepool still includes breeding stock whose parents were from the first wave of imports into the country in the 1970's.   The large number of blood samples sent from New Zealand is to provide a pool of ponies that are expected to to be free of HWSS carrier status, which can then be used as 'controls' in developing the future diagnostic test.  Only time will tell whether this is in fact a true reflection of the genetic status of the Connemara pony in New Zealand.

 

On January 19th  posted on this blog was, Want to know more about HWSS? Here the opportunity is given to any interested parties to book a presentation by a local representative of the Connemara Pony Research Group. 

The blog entry commences with:

"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."

What has to be realised is that scientific research is moving at an awesome pace - what is correct in January is superseded with new knowledge and information by March.  The presentation material contains more in depth and recent information than does the blog; see the paragraph in italics above as to why this is so.

It always pays to go to the horse's mouth for up to date information.  

It is also past the time when the work of the research group and the Bannasch Laboratory should be acknowledged by various Connemara breed organisations and their executives.  This surely a matter of courtesy at the very least.

Feel free to comment on the HWSS facebook page

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.

The fun of Statistics or "Lies, damned lies, and statistics"

There is a saying (in English) that there are "Lies, damned lies, and statistics".  This saying has over the years been attributed to many people, the least of whom are Disraeli (a British politician of the 19thC) and Mark Twain. However because 'google' is our friend I went to check the veracity of the above mentioned quote and found that it pre-dates these two aforementioned gentleman. history of the lies quote .

The point being made in the quote is that statistics can be manipulated to support or demolish a particular argument, they can be incorrectly reported by the media for dramatic impact, wilfully misinterpreted for personal or political gain and  generally tend to turn people off  from wanting to know more about a subject.

However statistics are also a useful tool in epidemiology.  For those who do not know, epidemiology is the study of disease patterns within and between populations, over time.

The investigation into finding a cause for HWSS was accelerated by using statistics.  The probability of 26 apparently unrelated ponies, living completely different lifestyles, in different countries in different continents spontaneously all being afflicted with the same debilitating hoof condition is statistically unlikely; there had to be a common denominator.

Back in 2005 there were very few publicly accessible 'through the internet breeding data base resources' available.  Since then of course there has been a growth in such sites as all breed pedigree and sukuposti.  These sites well pre-date the official database of the CPBS.  Consequently if one wanted a comprehensive database of the 'state of the nation' of  even the local Connemara Pony genepool one had to construct a database from scratch by manually loading information from the various printed stud books and registers into a suitable computer programme.  

Papers of interest which arose from the building of  a privately assembled database can now be seen on line.

Connemara Pony Bloodlines in New Zealand
An Analysis of the Australian Connemara Pony Population

What has happened to all the stallion lines in Australia 

2007.05 Australian Connemara Stallion analysis 

All of these papers were written up many months prior to this particular database being used to determine whether there was a common link between the 26 apparently unrelated Connemara ponies which had clinical HWSS.  The information contained in these papers have no connection whatsoever with the HWSS research.  They are included because they demonstrate how statistics can be very helpful in making breeding decisions.  They are also of interest to those people who are (rightly) concerned about increasing genetic bottlenecks, decreasing genetic diversity and the negative effects of  'Founder's Syndrome' in the Connemara Pony both  in their own country and worldwide.   It would be great if other countries were to also emulate this work and do a similar analysis of their own pony populations.

Such work as has been done in New Zealand can also be achieved in other countries. One needs an extensive database which includes all of the breeding for example includes the total parentage of the OUTCROSS stallions, not just the Connemara pony side of the pedigree.

What these papers AND the pedigree work undertaken for HWSS research  does prove, is that studying standard four generation pedigrees is not a valid form of analysis in a small, closed genetic population such is the Connemara Pony WORLDWIDE.   Indeed even a seven generation family tree does not disclose all the possible permutations which, with one common ancestor, has  resulted in HWSS.

The private database being used by the research group, now has well in excess of 20,000 individual entries which originate with Number One in the Irish Stud Book, Cannonball.  Work has begun to code each entry for HWSS status (where known).  Ultimately the aim is to convert the database into a statistical analysis programme which will then be able to predict the level of penetrence of  HWSS carriers within discrete populations.   Doing this process is one of academic interest only, because a screening test will be available well before the data entry is complete.  It will be interesting to see whether the statistical projections are significantly different from the reality demonstrated by the screening, however.

Of course the screening test is not going to happen until the second phase of the research is complete.  The second phase does not commence until the fund raising has reached the target.   So another plea for money here.  The funds still required are well within the achievable; we are so close to achieving the goal, but not quite there - yet.

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.