Swabs - DNA testing, Van Andel Research Institute

[RodRussell]

I am very familiar with the collaboration between the Canine Genetics Group at the Van Andel Research Institute and the Translational Genomics Research Institute to find the genes that cause early-onset progressive deafness in CKCSs. CavalierHealth.org has been urging its viewers to contribute cavalier DNA samples to this same team since April 2011, to find the genes causing this genetic disorder in the breed (which, incidentally, Dr. Podell first identified). See http://cavalierhealth.org/deafness.htm#Current_Research

But in THAT study, the genetic deafness study, the team's call for DNA has been from both those cavaliers suspected of hearing loss AND older cavaliers with good hearing, for "control" purposes. And, it is a lot easier for a dog's owner to suspect hearing loss than for that owner to diagnose MVD and/or SM in our breed.

I see no such discipline in this new call for DNA from a thousand cavaliers which may or may not actually have SM or MVD, regardless of if or when they have been MRI scanned for SM or ultrasounded for MVD. So, it just seems naive on someone's part, considering how careful the other gene researchers have been in verifying diagnoses of SM and verifying controls.

[Karlin]

The person who discussed this new scheme with Van Andel has noted elsewhere that this is NOT a study yet and these swabs are ONLY being used to help them decide whether to do a study at all; the study was simply ' a suggestion and is no more than that right now.

That doesn't mean not to submit swabs -- esp. for deafness, or in the case of 'unknowns' -- but I think the researchers are poorly informed if they are simply requesting owner-submitted information on scans/auscultations, and not aware/not been told of the ongoing DNA work that suggests the genetic link between CM and SM. Maybe they don;t understand that a 'clear' diagnosis is only -- as some breeders love to say -- 'a snapshot in time' and therefore surely not adequate alone for DNA work; scan results need lots more context than simply the SM/no SM result, need standardised reading for consistent diagnosis as some have missed syrinxes and dilations, and -- a cheek swab that might be coming years after the 'clear' scan is pretty darn meaningless for research!

I will try to get some clarification from them but others probably will attempt this too. I would feel it misleading to submit swabs for my dogs, whose last MRIs were 3.5 years ago and might now not be 'clear' at all for my clear dog.

[Nicki]

I have copied the posts here over to the main thread, http://www.cavaliertalk.com/forums/s...arch-Institute and will lock this one.