Showing posts with label Bannasch Laboratory Connemara Pony Genetic Research GWAS Hoof Wall Separation Syndrome HWSS. Show all posts
Showing posts with label Bannasch Laboratory Connemara Pony Genetic Research GWAS Hoof Wall Separation Syndrome HWSS. Show all posts

Sunday, 29 September 2013

Vale for Crafty

Rosewood Witchcraft (Crafty) brought a public face to this dreadful (and soon be preventable) condition of HWSS. 
Because her owner and breeder was prepared to publicly talk about her pony, Crafty became the 'poster-child' of the HWSS research project.

It was Crafty's visit as a foal at foot, to the Veterinary Teaching Hospital at UC Davis, which spurred the geneticists of the Bannasch laboratory to take on the HWSS research.

To see condition in the flesh really shocked all of the vets involved in her work-up.  Photographs just do not, and cannot show the reality of this condition in the severe form.

Crafty supplied a blood sample which was used in the very first tranche of the GWAS study.

Of the 18 affected ponies which comprised the first and second stages of the GWAS study, since October 2011, seven of these ponies have had to be euthanased on humane grounds.

Sadly, now Crafty has joined her peers.

"Crafty was put down on Tuesday  morning [24 Sept 2013]. She had her fill of hay and a quart of omaleen before the vet arrived. It was quiet, without stress and pain-free. She is buried near the pasture where she played, with a new apple tree and summer lilies. 
Her final contributions have been shipped to UC Davis. Crafty was very lame and her feet were literally falling apart. We managed well for 2 years but the last six months were really going down hill. I think she just got too big and heavy for those fragile feet to carry her." (Darian Hall, owner and breeder of Crafty).



Darian made the difficult decision to have her vet take various tissue samples, as instructed by the researchers at Bannasch, before Crafty was buried.  This is what she refers to as being Crafty's 'final contributions'.


This is a recent photograph of one of Crafty's feet.







There are sadly, still many people in the Connemara Pony breeding community (especially those in a positions of power in the CPBS) who cannot, will not or choose not, to accept that HWSS even exists at all, never mind that it has a genetic cause.

Please people open up your minds.  Acceptance that there is a problem is the first step to eliminating that problem.  Doing nothing will cost more in monetary terms in the long term, than any short term loss which could result from acknowledging the problem.

Sadness is having a pony born with a condition for which there is no treatment.

Our condolences to Crafty's owner and breeder plus her extended Facebook family.









Sunday, 15 April 2012

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.
 



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.

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.  


Plus

  • 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.