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Originally Posted by gemy  I thought to ask Phil in private my questions about this genetic test; how-ever for the few members who are interested in genetic tests, and the truly exciting world of how science based studies can help we breeders eradicate a genetic disease or two; I will ask them here.
Phil: I will have the opportunity to speak directly with Dr O'Brien as he is the guest speaker at our Banquet dinner during the BRT Nationals.
I think my overweening question is on the reliability of a test that seemed to be so quickly developed? I don't know if a research paper has been published yet, so I can't link you to the research.
What are the other types of questions I should be asking?
I do hope your weekend is going well, and Bella is thriving  |
Hi Gail,
Here is a link to a recent article on genetic testing for neurological disorders in dogs by Dr. O'Brien that came out just this year, and is NOT behind a paywall:
DNA Testing in Neurologic Diseases - O'Brien - 2014 - Journal of Veterinary Internal Medicine - Wiley Online Library
It doesn't specifically reference the new test for JLPP in BRTs, but it gives a good general background and is fairly readable to the lay person.
This paper does mention tests for polyneuropathy in Table 3. There are two different genes mentioned, and several breeds of dogs, but not BRT's specifically. Maybe one of these two genes is affected in BRT's with JLPP? Here is a copy of the part of Table 3 about polyneuropathy:
Polyneuropathy - NDRG1 - c.1080_1089del10 - Greyhound
Polyneuropathy - NDRG1 - c.293G>T - Alaskan Malamute
Polyneuropathy, LPN1 - ARHGEF10 - c.1955_1958+6del10 - Leonberger & St. Bernard
So, the questions I would ask Dr. O'Brien are:
(1) Which gene is the new test measuring? Is it NRDG1, ARHGEF10, or some other gene?
(2) What is the test measuring? Is it a change in the DNA, RNA, or the protein?
(3) What type of sample is collected? (I'm guessing it's probably blood, but it could be a cheek swab.)
(4) How reliable is the test?
(5) What is the cost?
Please look over Dr. O'Brien's paper and let me know if you have any other questions. Maybe we can think of something else you could ask Dr. O'Brien. How soon is the dinner?
PS--My weekend is going well. The weather here is chilly, but sunny and dry. Tomorrow I'll be raking leaves. Right now, Bella is curled up on the back of my legs, warming herself
.