I own a website called The Pit Blind.

We've got a pretty good discussion going on over there about it.

I have 5 blood samples in to U of P for the database and got some interesting news today from Sam Long.

I think it will be posted here shortly, not sure if he was referring to this site or the ACC site.

Sam will be meeting with The University of Missouri folks in about 2 weeks to go over the details of the Database testing and then results should be completed in about a month from that point.

I believe that the results will be made public but the Dogs/Owners will remain anonymous. You can get the results of your dog(s) test results though.

Did he say anything about when a test will be available?

Here it is from Diane Mazy:

Chesapeake Bay Retriever Degenerative Myelopathy Update
April/May 2008

Although it has been some time since our last update, research on the degenerative myelopathy project has been progressing well. We now have nearly 900 dogs entered into the pedigree database, and blood samples from approximately 120 dogs. Of these, we have 32 dogs that have been tentatively diagnosed with DM, and 11 fully confirmed cases (either through post mortem examination or MRI). Having these fully confirmed cases is vital to the sequencing part of the project, since the strength of the sequencing depends critically on knowing that the DNA from the dogs we have submitted is from dogs that definitely have the disease.

In December of 2007 we submitted 12 samples (some affected dogs and some controls) in the first part of the sequencing project to the researchers at the University of Missouri. These samples were sequenced along with samples from corgis and boxers affected with DM. The sequencing has gone well, and we will officially be able to release results in the coming months. If the sequencing reveals the gene (or genes) responsible for DM, the next aim will be to develop a diagnostic test that can tell us a) which dogs carry the genes for DM (allowing owners to make informed breeding decisions) and b) how common the gene(s) is/are within the population.

Since there will certainly be dogs that carry the genetic defect at present but which are not old enough to show clinical signs, the final part of our project will be to try and identify behavioral traits that may identify early signs of DM that appear before the neurological deficits. To this end, we have been collaborating with Dr James Serpell, a behaviorist here at the University of Pennsylvania, to design a web-based survey for owners and breeders to fill in. The survey, known as C-BARQ (canine behavioral assessment and research questionnaire), has now been tested and is up and running at http://www.cbarq.org/pennvet This questionnaire is specific to Chesapeake Bay Retriever owners, and to restrict access to the questionnaire you will need to enter a special pin number, which is 5377. The survey takes approximately 15 minutes to complete, and the more responses we get the more useful the information will be. To identify those traits that are particular to dogs with DM we need compare them with normal dogs, which means that we need owners of normal dogs (especially those over the age of 10) to fill in the survey as well as owners of affected dogs. We will start analyzing the data from the survey at the end of June, and look forward to reporting back with the information we collect.

Once we have completed analysis of the survey results, our plan is to publish all of the information we have collected, including the behavioral questionnaire, pedigree analysis and sequencing information. Once again, it needs to be said that the extremely rapid progress we have made with finding the genetic defect responsible is entirely due to the fantastic contributions the club has made, both by way of assistance, by providing samples, and by providing donations. The end is in sight!!

Dr. Sam Long - University of Pennsylvania, School of Veterinary Medicine


Chesapeake Bay Retriever Degenerative Myelopathy Project

Breaking News


We have already had some people emailing me because this news has recently been released on the AKC website, so this update is to confirm the news: A strong candidate gene for Degenerative Myelopathy has been found as a result of the sequencing project carried out at the University of Missouri. Thanks to the combined efforts of the corgi, boxer and Chesapeake bay retriever clubs, sequencing of samples has revealed an allele of a gene in all 3 breeds for which all affected dogs so far have been homozygous. Sequencing has also revealed two other areas of chromosomes which may also play a role in the disease, suggesting that the allele in question may be modified by their effects. In addition, samples from some dogs without evidence of DM have been homozygous for this allele. Since these dogs have so far been too young to display signs of disease, it is not absolutely certain that all dogs that are homozygous will develop DM. However, it appears that dogs that inherit 2 copies of this allele are extremely high risk of developing clinical signs.

A genetic test will be officially available in June, with a projected cost of $60. We are proposing that dogs with a suspicion of DM be tested for free initially, to confirm the strength of the test. We are also proposing that all the samples submitted to the DNA bank at the University of Pennsylvania be sequenced at no charge to their contributors, and that contributors then have the option of receiving their test results or not. Our advice to breeders with dogs who are homozygous for the affected allele is not to completely exclude them from breeding, since this could potentially cause a bottleneck in the gene pool which could expose other, more severe genetic defects. Instead, we are recommending that dogs that are homozygous for the affected allele be bred to dogs that are homozygous for the normal allele. In this way, as long as matings are carefully planned, we can breed out affected dogs slowly without (hopefully) exposing other deleterious genes.

In the meantime we will continue to complete the studies that are ongoing, which includes the behavioural survey which will be online shortly, and to publish our results as quickly as possible. Sequencing work will also continue, in particular fine-mapping to identify the specific mutations in the genes that we have now identified. Thanks to the enormous enthusiasm, support and contributions of the members of the club and their dogs, it now looks as though we may be able to beat DM and get rid of this terrible condition from the breed.

This is wonderful news! I was so happy that I logged on and tried to complete the web form for two of my dogs. Unfortunately, it crashed both times. It's probably best to give them a few days to fix their code.

Claire

I just completed the cbarq survey and had no problems with it. Claire - do you want to try again and let me know what happens? Anyone else having any difficulty with it please let me know so that I can pass on to Dr. Long for the IT folks. It is supposed to be up and working (tho it took some time to get it that way, which is why this update was late getting to everyone!).
Anyone needing to report problems email me at riskyriver@juno.com or post here.
Billy, thanks for posting the updates - I had no idea how to include the attachments<g>
Diane

Hi Diane,

I tried the form again for Colima Vivaz (my 13-year-old). I found the following error message -
The error occurred while processing an element with a general identifier of (CFQUERY), occupying document position (61:2) to (61:47) in the template file d:\htdocs\www\cbarq\\pennvet-study_action.cfm.

The problems seem to be with her name (whether or not I add her titles) and the explanation I offered for her minor behavioral problem.

Thanks!
Claire

Thanks - someone else reported a problem also. If anyone (besides me!) successfully completes it let me know that also.
Diane

quote:

We are also proposing that all the samples submitted to the DNA bank at the University of Pennsylvania be sequenced at no charge to their contributors, and that contributors then have the option of receiving their test results or not.

Diane,

When the test is available the samples will be sent to the U of PA ? I am not sure I understand your sentence above.

Dyane

quote:

Originally posted by Diane Mazy:
Thanks - someone else reported a problem also. If anyone (besides me!) successfully completes it let me know that also.
Diane

Just completed without a problem.

Dyane

quote:

A genetic test will be officially available in June, with a projected cost of $60.

Question:

If a blood sample was sent to Dr. Long in Phase 1 is another sample needed for this new test or just send $60?

Tim
PS: the survey is working

I had no problem w/the survey...

Juli

I had no problem with the survey either.

Kathy Miller

In regards to Dyane's and Tim's questions - it is my understanding that all CBR samples collected by/taken by Dr. Long in last year (or more) will be sent to U of Missouri for sequencing, at no charge to the sample donors.
Donors will have the option of being given those results. (this is my interpretation, as both updates written by Dr. Long)
I am sure Dr. Long will keep us informed as to the status. Any more questions let me know.
Diane

Have only just checked in and read the news! Am so excited I can hardly type! I've just tried to fill in the form, but got stuck on Q.5 "Age of dog (if alive)" ... My dog with DM died in 1998, but it won't let me submit the completed form unless I enter an age. Do I just pretend he IS alive? (mis-information that might mess up the results?)
Also, can I have permission to reproduce Sam Long's update in our newsletter here in the UK, to spread the good news further, and get more people filling in the form?
Sue

Hi Sue,

If I were in your position, I would enter the dog's age at death. There is a place later to indicate that the dog is deceased.

It's hard to imagine that anyone would mind your reproducing the update, but it would be a courtesy to inform Dr. Long. Diane Mazy is in touch with Dr. Long and I'm certain would be glad to help.

Claire

Thanks - I did enter my dog's age at death, and carried on. Submitted it with no problem.

Have also been in touch with Dr Long (have been sending him info on affected dogs in the UK since last year, thanks to Diane Mazy putting me in touch) and he has given permission to reproduce the info. I didn't think there'd be a problem, but always best to check ... and he says there could be more news to follow in the next few days
Sue

Cool! Thanks for the teaser!

Claire

Just completed C-BARQ. No problems submitting.
Great news about advancements towards treating/curing Degenerative Myelopathy (point specific ataxia). Question for Diane Mazy - you mentioned two other areas of chromosomes which play a role in the disease. Do you know which chromosome pairs are involved? Are they adjacent or separated? If you know or can find out, please post. Thank you!!

quote:

Originally posted by SueW:
Have also been in touch with Dr Long (have been sending him info on affected dogs in the UK since last year, thanks to Diane Mazy putting me in touch) and he has given permission to reproduce the info. I didn't think there'd be a problem, but always best to check ... and he says there could be more news to follow in the next few days
Sue

That's great........Will be checking back to read the "News".......

Norene S.

Sue - glad the UK has been able to participate in the DM study.

Charles - I do not know which chromosomes but I'll try to remember to ask Dr. Long. Both updates were written by him (not me!).

Everyone - keep taking the cbarq survey when you have a few minutes to spare.
Diane