View Full Version : PLEASE help if you can!

29th March 2008, 02:10 AM
Crossposted with permission.

'BG" is Brussels Griffin breeders, who are doing a LOT amongst themselves and already pushed through one research grant by showing *united club support* internationally for SM research that is also helping cavaliers. :)

AKC CHF Grant # 954 - Identification of Genes Causing Chiari I Malfo
Posted by: "Gpc083@aol.com" Gpc083@aol.com gpc083
Fri Mar 28, 2008 1:24 pm (PDT)

I just spoke with Erika A. Werne who is the Director of Canine Research and
Education at the AKC CHF about the "pending" grant #954, Identification of
Genes Causing Chiari I Malformation in the CKCS.

Initially the CHF expected to hear back from the two US-based CKCS clubs by
the end of the year. Neither club has yet given the AKC CHF the approval for
the grant money. (She did say that one of the clubs has of recent date been
in contact with a list of questions so that may be a hopeful sign.)

I asked Ms. Werne when did she expect to know for certain whether the grant
money would be given to the University of Montreal and she said it would be
decided by the end of April. She also told me that if the two US-based CKCS
clubs do not support the grant that the AKC CHF more than likely will NOT fund

I then asked her about the donor-advised direct contributions that the BG
breeder community used for their recent fundraising. Ms. Werne said that we in
the cavalier community can do likewise and that if the AKC CHF saw that the
grant had generated enough interest with private donations, that it might
make all the difference.

So, off I went to the AKC CHF site to record my own donation towards this
most important research grant. I ask you all to PLEASE consider doing the same.
Your contribution can be small, any amount is allowable. In fact, Ms. Werne
said that the BG community had many, many donations of small amounts that did
add up quite nicely.

For so many years now we have been chatting away on the various CKCS lists,
HOPING for the day when we might have access to a DNA test for SM. Here is
your chance to do something positive. Please spend a bit of your money to help
secure the healthy future of the CKCS by helping to fund the grant to find the
genes responsible for SM. Thank you for your kind consideration and below
is the information on how to donate to AKC CHF 954. Please let the CHF know
that this grant is IMPORTANT to all of us who love the CKCS!

Gerri Pryor Carter

_www.akcchf.org_ (http://www.akcchf.org)

Select option: Donation
Please specify amount:
Please direct my donation to: GRANT 954

And of course, permission is not only granted to cross-post but also greatly

If anyone within the clubs wishes to raise why this is NOT being funded within the US clubs, please do! If the genome research does not proceed, it may be decades before a DNA test for SM becomes a possibility, or the inheritance is understood, as it has taken several years to collect and do the preliminary work on the DNA that is ready for this research (about half a decade!!). Almost ALL this initial work has been funded by small individual donors like yourselves and small grants.

On donations towards this research -- small amounts all add up so please don't not give because you feel you cannot give much or enough. Any amount is enough! ! Consider even as little as $10 and give up eating lunch out for a couple of times... a lot of $10 donations add up very fast. A $50 or $100 here or there adds up even faster. :)

You can use direct debit, credit card or Paypal.

Cathy T
29th March 2008, 03:44 AM
a DNA test for SM

Aren't those words beautiful??!!! I've felt so personally touched by the many online friends I have who have dealt with and are dealing with SM.

Off to make my "lunch" money donation. ;)

29th March 2008, 01:08 PM
Once you start the donation process you click some boxes and are given the opportunity to select where to direct your donation. And remember non-US folks -- your currencies are VERY strong against the dollar so a $50 donation only costs you about €35 or £25 -- it is very cost effective and with both Paypal and a credit card, you just pick the dollar donation and don't need to worry about the currency!

Note you can phone toll free to donate too from the donation link, if in the US.

Here are specific directions.

For all options, click on: http://www.akcchf.org/donate/donate_now.cfm

If you want to make a credit card donation, click on: https://secure.qgiv.com/cps_donors/index.php?key=akcfound

Start to fill in the form. You will see that the third section down says "Please select an option".

Pick the first, 'donation'.

When you click this, you immediately get a drop down menu and can choose "I wish to specify a grant". When you select this, automatically a new blank will open where you are asked to put in the number of the grant.

So put in 954 and complete the rest of the form. :thmbsup:.

For Paypal:

I don't know if you can designate a specific grant with PayPal. I went partway through the process -- sometimes the form eventually lets you add a comment but I don't know if this does. If it doesn't eventually let you indicate what you want the money to go towards, you could simply email them using this contact form -- http://www.akcchf.org/contact/?nav_area=contact -- and selecting 'donations' for the area. Just tell them you made a donation from whatever your Paypal email address is, and the amount, and clarify it is to go towards this grant.

For cheque or to fax a credit card payment:

Click this link: http://www.akcchf.org/pdfs/donor_form.pdf

And you will get the form and can print and send with a cheque, or donate by credit card. For non US dollar donations don;t send a personal check -- much of your donation will go towards simply paying the fee for the currency exchange. Paypal or credit card are the way to go!

Also: if anyone wants to Paypal me, I will then donate by credit card and indicate it is to go towards the specific grant. But most people with Paypal accounts will have credit cards and your card is the best way to be sure the donation goes to this specific fund.

I'd say that before the money starts to flow from the clubs, education about SM has to happen or a clean sweep of some of the folks at the top!

Sadly your experience doesn't surprise me at all and I agree totally with what you say.

The main SM discussion list has a man on it who is a statistician.He has been given access to scans and pedigrees from over 100 lines of cavaliers. He also speaks to the researchers. He understands how to do the very complex breeding coefficients and statistical predictions for the likelihood of SM appearing symptomatically in various lines. He has said of the importance of this grant-- that breeders may still not understand how bad the current suiituation is and how small a window there now is to save the breed. Period.

He thinks if cavalier breeders understood the severity of the disease, and how SM now almost completely penetrates all lines and how a very dire future is revealed if you run the numbers, that they would pull out the stops for mass scanning programs. He no longer believes piecemeal scanning is adequate -- there simply are not enough clear or A grade dogs.

Please, WE can be part of the solution rather than leaving this to organisations which often do not seem to care and seem more wrapped up in their internal politics and personalities than 'doing it for the dogs'. Let's do it for the DOGS.

29th March 2008, 01:24 PM
If you do not know much about this condition -- many of us on the board have dogs living with SM, or have already had to say goodbye to dogs that suffered too much with SM. My Leo has it and must take daily painkillers.

If you have not seen this (http://s114.photobucket.com/albums/n272/cavaliertalk/?action=view&current=Chris4.flv) -- please have a view so you better understand what this condition can mean for so many of our cavaliers.

There is no cure; there is only surgical intervention to try and alleviate the condition, or pain management by medication, hoping the condition does not progress.

Breeders need the tool of a DNA test to help breed away from this condition. Even screening thousands of dogs will still be a guessing process if breeders and researchers do not understand the inheritance. That is why this grant is so crucial.

30th March 2008, 05:12 PM
If anyone within the clubs wishes to raise why this is NOT being funded within the US clubs, please do!

I just sent an e-mail to all the members of the Board of Directors of the American Cavalier King Charles Spaniel Club inquiring as to their position on this research proposal and will do likewise with the Cavalier King Charles Spaniel Club USA (even though I am not a member of either club). I will let you know if I receive responses.

Karlin: Do you know anything about these particular researchers and/or do Dr. Clare Rusbridge or any of your other scientific contacts knowledgeable about Chiari I Malformation/Syringomyelia? Is this considered to be a good proposal by people who who are capable of doing the work and doing it well? You can private post to me if you think that would be more appropriate.

30th March 2008, 07:41 PM
This is Dr Rusbridge's joint project -- it is being done by an international team and is an excellent proposal with much initial work already done. Guy Rouleau who heads the project is one of the world's top genetic researchers.

Guy Rouleau:

Rouleau focuses his research efforts on characterizing defective genes that lead to nervous system dysfunction. Among his numerous ongoing research projects, Rouleau and his research team are currently interested in the genetic basis of a number of hereditary neurodegenerative disorders (a type of neurological disease marked by the loss of nerve cells), including Amyotrophic Lateral Sclerosis (ALS), epilepsy (characterized by recurrent attacks of seizures), and oculopharyngeal muscular dystrophy (characterized by eye problems and difficulty swallowing), as well as the genetic basis of psychiatric illnesses, such as manic depression and schizophrenia.


In recent years, Rouleau and his team have successfully identified genes linked to neurodegenerative disorders such as the gene linked to a juvenile form of ALS, in November 2001. This disease generally arises when children are 12 years of age and progressively leads to the death of nerves that feed the muscles. In 2002, Rouleau and his team also identified a gene linked to a form of epilepsy.

Currently an Associate Professor at McGill University, he also directs the Molecular Neurogenetics Laboratory, located at the McGill University's Centre for Research in Neurosciences.

Clare Rusbridge and the genome project:


More on the project (recent update) from the last Rusbridge newsletter:

Search for the gene/s for CM/SM

Considerable progress has been made in attempting to unravel the complexities of CM/SM and this continues with a successful grant application:

Identification of genes causing Chiari- like Malformation with Syringomyelia in the Cavalier King Charles Spaniel.
Principal Investigator Dr. Zoha Kibar, University of Montreal (MU) Canada. Co-investigators: Dr Guy Rouleau, and Dr Marie-Pierre Dube (MU),Dr Clare Rusbridge and Penny Knowler, SLVC, UK, and Dr Sarah Blott from the Animal Health Trust, UK.
Funding: AKC CHF Grant # 954:

The proposed study of identifying the gene(s) responsible for CM/SM will allow the development of a genetic test to identify carriers and devise breeding strategies to reduce or eliminate this devastating condition in affected breeds. This will be possible to a lesser extent with the identification of candidate loci by linkage analysis, and with much broader applicability once the precise gene is identified. These studies will also help better understand the underlying molecular and cellular pathogenic mechanisms for better diagnosis, prognosis and clinical management of CM and associated SM.

Update report from the principal investigator Zoha Kibar:

This team brings together significant expertise in the clinical and biological aspects of CM and associated SM, as well as in genetics and statistical analysis of complex traits.For the CKCS breed, CM is present in almost 100% of CKCS dogs in various degrees of severity, while SM is present in 50-70%. We have constructed a genealogy of more than 10600 related dogs spanning 24 generations from over 600 MRI confirmed dogs and established a wide DNA collection of over 1500 samples. We completed a whole-genome scan in 173 CKCS dogs selected based on SM-affected status and familial relationship. Genetic analysis identified six genomic regions that could harbour the SM gene(s). We are currently investigating these regions by additional genetic studies in a larger sample size.Since CM is present in almost all CKCS dogs, this genome scan will not identify the genes causing CM. Consequently, we will use the Griffon Bruxellois breed for this purpose. We will conduct a whole genome scan using these 31 dogs and the Illumina canine SNP chip (30K SNPs or single nucleotide polymorphisms). The candidate genetic interval(s) identified in both genome scans will be narrowed down using genetic studies the CKCS and BG breeds and other related breeds affected with CM. Once the candidate genomic region(s) have been delineated to the maximum resolution, we will use the positional candidate gene approach to identify the defective gene(s) in CM and/or SM.

Full newsletter: http://sm.cavaliertalk.com/research/research/research/winter2007.html

The application was accepted, but now the awarding of the grant hangs in question because the two clubs need to back it -- or they need to see enough of us out here care about this breed and this horrible problem to lend our support. :thmbsup:

30th March 2008, 07:57 PM
This is Dr Rusbridge's joint project -- it is being done by an international team and is an excellent proposal with much initial work already done. Guy Rouleau who heads the project is one of the world's top genetic researchers.

Thanks, Karlin. Somehow I missed that! Will make a contribution and will also let you know what I hear from the two USA-based clubs.

Cathy T
30th March 2008, 08:07 PM
Do keep us posted on that Phyllis. I'll be very curious to hear how they respond.

30th March 2008, 11:08 PM
I'll be really interested to hear if you get a response too! Good for you for asking.

It isn't clear from the grant application that this is the Rusbridge/Rouleau project. I should have highlighted the point. :)

Guy gave a really interesting talk and Q&A at the Rugby, UK conference in October. His talk is on the CDs (http://www.cafepress.com/cavaliertalk/4311456). He says during the Q&A that he feels very confident they will find the responsible genes within the next two years or so. That was the first time I'd met him.

2nd April 2008, 11:12 PM
I just sent an e-mail to all the members of the Board of Directors of the American Cavalier King Charles Spaniel Club inquiring as to their position on this research proposal

I did hear back from the ACKCSC President (whom I believe is also President of the Charitable Trust) and then confirmed with the AKC Canine Health Foundation that the ACKCSC Board has now voted to support this research. I have not heard back from the other U.S. Cavalier club but since they are not affliated with the AKC this may not be a project they will formally support. I will follow-up.

I am pleased the ACKCSC is behind the research. Now, let us all pray for successful results. How wonderful it would be to locate the gene or genes.

2nd April 2008, 11:56 PM
Phyllis this is fantastic news. Thank you so much for your diligent work on this -- let's cross fingers the CKCSC also supports it.

We still need BOTH clubs or the grant is at risk, so please if anyone is thinking about it, lend some financial support, even if modest, to this grant! :)

Cathy T
3rd April 2008, 05:36 PM
That is excellent news Phyllis!!!

3rd April 2008, 07:21 PM
Do not think I had anything to do with it but I was happy to make the inquiry and am glad that the grant is being supported by ACKCSC. Even though I never met him, I see little Charlie's face in my mind and I know we must support quality efforts to minimze this terrible disease. We need additional financial support, lots of hard work by the researchers and lots of prayers by the rest of us.

Cathy T
3rd April 2008, 11:23 PM
Amen Phyllis!!!

4th April 2008, 03:24 AM
Will be making a donation. As was stated, every little bit helps. Judy and Dixie

10th April 2008, 12:55 PM
Could I also mention that the Kennel Club here in Britain has given a generous amount of Funds to help with Dr Sarah Blott's SM Research at the Animal Health Trust ,one of the biggest Veterinary Research Centers in the World ,in trying to find answers into the SM problem in Cavaliers ,she even hopes by the the end of her Research Project to have an idea as to how serious the SM Problem is in the Breed and be able to help Cavalier Breeders with their Breeding Programs