Re: [pyrnet] GPCA -- and dwarfs

[Kshoffman@aol.com]

In a message dated 10/13/2000 12:14:00 PM Eastern Daylight Time, 
JGentzel@aol.com writes:

>  What type cataracts are your referencing.  There are several and each
>  is quiet different?

That's precisely my point.  There are dozens and dozens of cataract diagnoses 
based on the size, shape, location, and progressive nature of the opacity, 
also whether or not the opacity is actually on the lens or on the lens 
capsule.  Not all of these cataracts cause blindness, as a matter of fact, 
many don't, and many aren't progressive, and cataracts can be caused by other 
things that aren't hereditary.  I personally don't place all cataracts as the 
high priority that Dr. Padgett would seem to suggest.  Only those types that 
do tend to result in blindness.  These issues can be discussed with one's 
board certified veterinary ophthalmologist.  There was a good article in the 
Gazette a couple of years ago on cataracts that explained many of these 
things.

>  <<They are often culled 
>  because there is a perception by some that this condition is something
>  far more grave than it is with regard to quality of life issues, and there 
is 
>  also the desire to hide the condition because of the unwarranted stigma 
>  associated with it. >>
>  
>  Is this anything more than pure speculation?

Well, I know firsthand it's the reason why a least two individuals culled, as 
they expressed to me directly, and then indirectly I know of several 
individuals who produced dwarfs and *didn't* cull but who were hassled 
terribly by a number of other people for not culling.  I suspect (but this is 
purely speculative) there are plenty more who feel the same way.

>  You know that I am not.  I know there are dogs with a degree of
>  deformity that is not identified in this survey.  Simple as that.
>  That's what happens in surveys like this. 

Okay, so you *know* meaning you've seen them and had a chance to assess their 
quality of life (in your opinion), and/or their owners and their owners 
veterinarians have assessed their quality of life as poor or nonfunctional, 
correct?  (Meaning it's not your speculative opinion.)  
  
>  <<Tell me Joe, which of any of those conditions do you 
>  honestly feel is less concerning and less of a threat to the breed than 
>  dwarfism?>>
>  
>  I cannot as I do not want to see any of them, and I am not going to
>  make the concessions that I can accept any of them.

No one does want to see ANY of them.  Most breeders don't want to make any 
concessions, but unfortunately, reality rears its ugly head.  So, show me all 
the lines out there that carry NONE of the deleterious genes that contribute 
in full or in part to producing ANY of those conditions, because I just might 
want to go stand in those lines. ;-)

>  If you want to talk about Dwarfs lets keep it there.  If you want to start
>  a new thread, like linebreeding VS outcrossing or something else, start
>  it up.  There may be some interest.

Why do I have to limit my comments strictly to dwarfism?  This is all part of 
the issue in my opinion.  We can't *just* address dwarfism, or just address 
hip dysplasia, or just address epilepsy, or just address SAS, or just address 
cataracts, or just HD or PL or anything else with regard to a plan to control 
genetic disease in our breed.  That is my whole point.  You can't just 
isolate each genetic disease and knock them off one at a time before you move 
on to the next one, and that includes dwarfism.  Such a plan will inevitably 
shift the frequency of one of the other disorders we have in the breed way 
out of whack (increase the frequency) if you focus on a genetic disease 
elimination plan like that, only one defect at a time.

Your focus seems to be on just how debilitating dwarfism actually is.  My 
point is, it depends on a lot of things, including what other defects a 
breeder might have to contend with in their breeding program.

Aside from that, you introduced Padgett's "hierarchy of disagreeableness" 
with regard to the dwarfism thing and how serious the defect is in the big 
scheme of things. Seems a natural evolution of the thread (to me) to discuss 
what else might be on our list of nasties we'd prefer not to deal with as 
breeders and where they fit into the big picture.

>  <<Probably somewhere in the 
>  neighborhood of $150-200.>>
>  
>  Great I will gladly pay.  When do you think it will be available?

So would I, be happy to pay.  I have no idea when it will be available.  My 
best guess would be years down the road, if at all.  My understanding is 
there is not sufficient data and DNA samples from affected families for the 
researcher to be making much progress.  At least we both seem to agree a 
linkage or direct gene test SHOULD be welcomed by all, but it probably is not 
just going to fall into our laps unless more folks admit to producing dwarfs, 
and submit the data/DNA on affected families and collaterals.  I can assure 
you that is never going to happen if the majority are culling these dogs.  It 
takes a lot of data, active participation and promotion, and funds to develop 
such DNA tests, but the biggest issue is the data/DNA.  They can't find a 
marker if they don't have a large enough sample of DNA to analyze.

The epilepsy marker project in Tervuren has been going on for several years 
now (specifically the DNA analysis phase -- another 10 years prior was 
survey/data collection, pedigree, and statistical analysis to develop a 
hypothesized model for mode of inheritance).  They currently have somewhere 
between 1500 and 2000 DNA samples as I recall (last project update), and they 
have over a period of years now zeroed in on something like 5 markers that 
"have potential" that they are further scrutinizing as candidate markers for 
the test.  They estimate we have another 1-2 yrs before we will have a test 
available.  That should provide a general idea of how long these processes 
can take, and that's assuming there is enough data to analyze to begin with.  
So how many samples do they have in the dwarf study?  Last I heard, maybe 
1-2% that amount.

The dwarfism marker project doesn't seem to be moving along very rapidly, 
granted. I don't think it's because no one wants the test, nor do I think 
it's because no one thinks dwarfism is of concern. I think it's because there 
simply isn't enough data. Maybe it's partly because no one wants to admit to 
producing a dwarf, and hence many dwarfs are likely euthanized, or maybe 
there simply aren't enough willing breeders/owners to participate.  Doesn't 
matter how well funded the project is if they have too little data to analyze 
to draw any meaningful conclusions.  So what are some potential solutions to 
that obstacle?

>  <<, and they shove the puppies out the door at 4-6 wks of age to
>  save more money, and you think they are going to shell out $150-200
>  a pop on a bunch of breeding stock >>
>  
>  I am sorry Kelly but you must have come in on this late, because that
>  was what started this thread.  I called it a Red Herring and I still call 
it 
>  that.  

The beginning of the thread I was responding to started with your posting of 
Dr. Padgett's "Hierarchy of Disagreeableness" and how debilitating dwarfism 
in Great Pyrenees is.  Maybe I did come in late on something, and maybe you 
should fill me in. What Red Herring? Whose Red Herring? I'm admittedly 
confused about the Red Herring.

>  <<No one has suggested breeding two known carriers together to get
>  dwarfs by design. So what do you mean by "go forward with these
>  cute little dogs"?>>
>  
>  Again, we are told there may be those out there that want to use the
>  marker as a tool to breed the carriers so they can get Dwarfs to sell.
>  It has been offered to us as a possible valid reason not to develop the
>  marker test

Ahhhhhhh....

Geesh Joe, are you saying you and I actually agree that this is an utterly 
ludicrous notion? ;-)  You say, "It has been offered as a valid reason not to 
develop the marker test".  By whom?  By the Health Committee?  By the GPCA?  
By the dwarfism project coordinator? I certainly did miss something if this 
is the case.

Kelley