My kits are on the way!
My kits are on the way!
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.
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.
Thank you for investigating this further - I'm sorry it has caused so many problems.
It seems a dreadful waste of time and money to collect all these swabs with no definite plans?]
I am going to combine the two threads running on this topic.
Nothing ventured ,the girls had a meeting and told me to send an email on their behalf ,which I have
I actually wouldn't invest any more time or effort on seeking a clarification. This appears to be a giant misunderstanding.
As far as my personal feelings on sending in a swab "just for the heck of it" - That is something that I wouldn't do. And I suspect that the breeder of my Cavalier (the one of two for whom I have a pedigree; the other being a street foundling) wouldn't be crazy about my submitting his DNA and identification for some unknown future purpose despite assurances of confidentiality. But that's a decision that each owner will make for his/her own dogs. This is quite different from when I submitted his blood sample for DNA identification along with his scans as part of the Rupert's Fund study - this was for a specific, clearly understood purpose.
i really can,t believe what i,ve been reading on this website, so much negativity.Theres good people out there willing to give time and effort to try at no cost to the owners, to do what they can to try and stamp out these terrible conditions, our beloved pets are suffering, so what if its all a waste of time, they have my total support and backing. and i will be passing on the email to others. karen
I've just been briefed by a member of the team -- Van Andel Research Institute & Translational Genomics Research Institute
-- about this project. They still are focused on the progressive hearing disability in the breed, and they have no plans to extend it to MVD and/or SM. But, to quote them: "If during this collection effort we achieve sufficient interest and samples (the latter being critical) we will consider expanding our research to include other disorders for study."
This team has a worthy goal -- to dig as deep as possible into the genes causing progressive hearing loss in the CKCS -- and I urge everybody to consider submitting DNA to the team for that purpose, if you either have a cavalier than has become deaf in early adulthood or have much older cavaliers which have not lost their hearing.
Is 11 years old and not deaf a much older cavalier or is that not old enough?