View Full Version : Swabs - DNA testing, Van Andel Research Institute

7th May 2012, 11:24 AM
Calling ALL Cavaliers to unite ask your owners/people to give 100% participation & pass this info on to others. I encourage all breeders to not only cheek swab their dogs they own, but to contact all of their pet owners in asking them to do the same.
Doctors who see Cavaliers for these health issues to pass this info on to owners. I think we can form a village to help move this mountain by giving support in getting these ...cheek swabs done. Please read how you can help.
There is a group of researchers who are investigating the genetics behind Cavalier health issues. We are asking for your help and support at no cost to you. Post this to your FB, I have on Jill Scan. I condensed the info into a doc below.
The group is Van Andel Research Institute in Michigan and they are working on Cavalier genetics for SM, MVD, and early hearing loss. They were working on only hearing loss in the Cavalier, but have expanded their efforts to included SM, MVD & early hearing loss.
They are a non-profit and the tests (cheek swabs) they need to do the research are free.
This is a call out to ALL owners of a Cavalier to rise to the occasion to support this research. This is vesting just a wee bit of time to protect preserve the love this breed gives so freely to us. Please read below as to how you can help and FAQ.

1-1st is to E-mail to Linda see #11 below to get swabs for your dog(s) AND send this on to any others for them to participate.

2- You will also be automatically added to their database and get updates on how things are progressing.
If/when they locate the genes controlling these diseases you will automatically be sent the results for your dog(s).
(This can directly benefit one's breeding program and the future of Cavaliers)

3-Your dogs’ identities will be protected.

4-There are no age limits, as long as the dogs are weaned.

5-It does not matter where the dog is, in what country, it's breeding/pedigree, registration etc.

6-They need swabs from a total of 1000 Cavaliers, including ones that have been MRI’d clear, and those that have been MRI’d with SM, as well as bunches of “unknowns” or unscanned dogs.

7- If your dog is deaf or hard of hearing, make mention of this in your e-ml to let Linda know, she will send you a special kit for those dogs. It's a different collection for hearing.

8- You will fill out a short questionnaire that will be emailed to them in about the first of September. The questionnaire should take less than 10 minutes for each dog that a swab was sent in on.

9- All individual results are confidential!

10- A bonus is that everyone that sends in swabs now those dogs their genetic code will be in that database and as results become available for markers could qualify for additional free testing, and results prior to the final publishing of the marker.

11- E-ml Linda lynwoodstudio@yahoo.com and request the quantity of swabs needed for your Cavaliers. Be sure to include your name, email, mailing address along with the quantity of swabs needed.

12- Be sure to include on each dog’s cheek swab as to how this dog fits into the goals outlined below, include identification of that dog name & registration # DOB owner’s name written on the label for each cheek swab. More info is better than not enough. The reason is if the research team has any question they know which DNA they are needing more information on and also will help them to know at a glance what group this dog’s DNA fits into as to the parameters they are looking for to compare in trying to find the genetic mutation.

There are already participants from Canada, Australia, Alaska, and I believe England. The more the better to get as much diversity & get the #’s for the genetic profiling they need below. This group is well versed in canine genetics and has discovered the genetic links for diseases in other breeds of dogs.

Some further info on this research team from Linda:
All Clumber spaniels breeders bank DNA for research with them. A Clumber breeder/judge at the CKCS national took enough swabs back to Alaska for Cavalier owners because of Van Andels great help in Clumbers. I spoke with this Clumber person who impressed upon me their work. She did not expound on specifics but said that Van Andel's research saved her breeding program!! Talk about a passionate believer! This is even more motivation for us to make sure we get our Cavaliers into their research. The more I learn of this research group, the more I am so impressed!

Linda is a volunteer contact person for cavaliers and not affiliated with Van Andel nor has any interest other than is a CKCS breeder that knows this needs to be done
Again, I can not thank you enough. We have nothing to lose and everything to gain. The plus side is that we, as the participants could gain valuable genetic information free of charge and it is confidential!
1,000 general population cavalier swabs across the US

100 early onset hearing loss

100 MVD clear

100 with MVD

100 MRI cleared of SM

100 symptomatic of SM

Fully Weaned puppies to geriatrics. As you see, all cavaliers qualify! There is simply no reason to not do this.

If your dog is deaf or hard of hearing, let Linda know and she will send you a special kit for those dogs. It's a different collection.

With all my heartfelt thanks, for doing a good thing for the dogs & their future,
Linda Baird Lynwood Cavaliers

Please email Linda at lynwoodstudio@yahoo.com and request the swabs for any Cavaliers you have see #11 above for the info needed to include.
It’s a chance to get some real data about these awful conditions. For anyone who has lost a loved dog to one of these conditions this is a way to remember them, to try to help the dogs now and in the future.

This is the original webpage for the hearing loss scheme which has now been extended http://www.vai.org/Research/Labs/NeurogeneticsCanineBehavior/Cavalier-King-Charles.aspx

7th May 2012, 11:42 AM
Will do especially since my puppy comes from unknown, the pregnant mother was dumped at a shelter. I'm all about helping research and this sounds so easy.


Actually Nicki all I did was hit the orginial web site link on the bottom of your post they have all the info there and you can request the kit right there. Super easy!! Already done.

karen baker
7th May 2012, 05:15 PM
yes consider it done, have emailed linda already, want to help as much as i can. karen

7th May 2012, 06:16 PM
Already done and I will send it on to Oliver's breeder as I am sure she will help too.


7th May 2012, 08:23 PM
There are some questions that have been raised about this approach however, as worthy as it may sound. These have been noted here in response to the same post in the Health section -- not deterring anyone from being involved, but really this does not sound a very professional approach and the last thing needed is a "DNA test" that is actually misleading and inaccurate.


I'd want a lot more information on how they are conducting these projects and verifying information -- simply handing in owner documents especially if they are vets giving a 'no murmur' response -- as statistically a study has shown vets miss HALF of all early onset murmurs! -- and neurologists and radiologists have differed in interpretation on scans -- they need a lot of quality control, and independent verification/agreement on health results.

I wonder how much they actually know about cavalier health issues and that there has been DNA work down in the UK and Canada already on some of these conditions; ongoing work as well.

I also really question whether simply being free of SM is adequate -- the current, existing DNA work is looking at the complex relationship with CM. I dont think you can simply work on 'has SM/doesn't have SM -- especially if swabs come from dogs scanned more than 6 months previously as 'free of SM'. Many here know to their own shock that a dog can scan free of SM and be affected within 12 months.

Owner self-submission for scientific work, in short, is quite bizarre by research standards.

7th May 2012, 08:38 PM
emailing now!

Kate H
7th May 2012, 10:53 PM
Karlin wrote: I also really question whether simply being free of SM is adequate

I would second this. Aled scanned clear of SM 3 years ago. If I had sent in that result 6 months ago, I would still have assumed him clear, whereas he almost certainly already had the SM that was diagnosed when he was scanned last week. And even a dog who scanned clear yesterday could be carrying the SM genes - this is a progressive disease and unfortunately no-one can say 'My dog has scanned clear and therefore will never get the disease.' And until the genes and mode of inheritance are identified, even those older dogs scanned clear with Rupert's Fund, while providing an invaluable control group, could still be carriers. This research project makes it all sound so simple - get enough genetic samples, and bingo! you'll identify the gene - and sadly it ain't.

Kate, Oliver and Aled

Margaret C
8th May 2012, 12:32 AM
.........."This project has taken on a life of it's own. Long story short:

The research institute has an ongoing project looking at the genetics of deafness in Cavaliers. One of the researchers contacted me about setting up a table to collect swabs at our Cavaliers of the Midwest show last month. During one of our conversations, she got really excited about additional research possibilities with MVD and SM. We then met with the research director to discuss possibilities and he asked us to collect 1000 samples. He would be able to tell from those samples if there was a research project there that they would be interested in doing. We began collecting samples from dogs at the show. On their own, people who were not part of the core group posted information on email lists and encouraged people to request swab kits and participate in this effort. Now we have been inundated with requests for swab kits. However, the lab will not send kits overseas, so this is limited to US dogs. And we already have more than 1000 requests for kits.

We hope that this will lead to a study, however it is very early days"..........

8th May 2012, 12:38 AM
Ah - I just posted about this on the second thread here on the general health forum. But I didn't think it was okay to copy a direct quote from another message board, so I paraphrased the information.


8th May 2012, 12:56 AM
For me this becomes a why not. All they are asking for is a swab reasearch is reasearch to me who knows why they'll find.


8th May 2012, 02:23 PM
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.

8th May 2012, 04:03 PM
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.

8th May 2012, 08:52 PM
I have copied the posts here over to the main thread, http://www.cavaliertalk.com/forums/showthread.php?41506-Swabs-DNA-testing-Van-Andel-Research-Institute and will lock this one.