View Full Version : News SM/CM Genome Studies

27th May 2010, 05:01 AM
This is really good news that just appeared on Clare Rusbridge's website and the genome studies are continuing.

Genome wide linkage studies identifies a novel locus for Syringomyelia associated with Chiari Malformation in the Cavalier King Charles Spaniel.
See at this link address and document in PDF format.

27th May 2010, 09:23 AM
Thanks for posting the link! I was just writing up an item on this -- have crossposted to some of the lists. Here's what I posted as it gives a little more info (and explains how Rupert's Fund fits into what is happening now on this project. I shortened the URL below which might make it easier for people to email if they want to send around this information.

This is really exciting though -- the likely genetic area that causes SM has been identified.

A new abstract on the current status of the Canadian genome work on syringomyelia in cavaliers is now available:


In simple terms, this states that researchers have identified an area on the cavalier genome that is highly likely to be the genetic site for SM (not just CM but specifically, SM), and that this area is unaffected in clear dogs. The continuing work right now on this project is to hone in on the fine mapping of the genes -- to determine in as much detail as possible, exactly where this is happening, and better understand how and why.

Researchers continue to seek dogs over 6 who have a pedigree and have been MRId already -- they would value these scans from anywhere in the world, whatever the result. They are also looking for dogs over 6 with a pedigree (or registered) in the UK that have no symptoms and that might be fully clear of SM. There is potential funding to have such dogs scanned for research through Rupert's Fund. Donations to this fund are also very welcome, of any size, as it all adds up towards another scan! More information on donating, the project, contacting the researchers, and eligible dogs, is at: www.rupertsfund.com. So far over 3,600 (over $5,000) has been raised in recent months and 14 dogs have been scanned. Of these, 9 were A grade dogs and 5 had SM. Of the 9 A grade dogs, 5 were fully clear of SM and have been especially helpful to this latter-stage fine-mapping research. Three more dogs identified as promising are awaiting scans once more funds are raised and available!

27th May 2010, 10:22 AM
On the genome research, I should also have noted the exciting news that they have also have the:

<< Identification of a haplotype that infers protection against SM>>


Definition of haplotype :

A haplotype, a contraction of the phrase "haploid genotype", is a set of closely linked genetic markers present on one chromosome which tend to be inherited together (not easily separable by recombination). Another way to think about it is that a haplotype is half of agenotype. Some haplotypes may be in linkage disequilibrium.

A haplotype can be identified by patterns of SNPs. Maps of SNPs (Haplotype maps) can be used to identify complex genetic variations ofinherited diseases.

Karen and Ruby
27th May 2010, 10:59 AM
This is such exciting news!!!! The news that many have been waiting for im sure :)

27th May 2010, 11:33 AM
Penny Knowler describes it like this:

Although CKCS with/ without SM have different genotypes Vincent has identified a length of the chromosome - haplotype (series of gene variations or allelles that are inherited together) which contains the mutation/s. In other words they have found the street and now they need to find the house and room.. ....and then find out what goes on in the room!

The scans of older cavaliers via Rupert's Fund and hopefully some other efforts are what is helping to provide the house and room and what goes on in the room.

27th May 2010, 04:38 PM
Also should mention the Canadian effort last year! :) The second fine mapping and validation project last year, part of the overall genome work, was supported by the Canadian breeders with an 'over 6 year scanning project' in Canada, when FTLOO (Sandy Smith's 'For the Love of Ollie' book project: www.fortheloveofollie.com ) funded 18 CKCS with additonal subsidies from the Canadian club. cl*p

28th May 2010, 05:44 PM
....they have found the street and now they need to find the house and room.. ....and then find out what goes on in the room!

Thanks for posting information on the status of the study. This is so exciting and I have to confess my eyes filled with tears. Every step forward is a step toward saving this wonderful breed.

28th May 2010, 05:47 PM
This is just fantastic news, great progress and it's wonderful that Rupert's Fund and FTLOO have been such a huge help.

29th May 2010, 09:12 AM
This is just fantastic news, great progress and it's wonderful that Rupert's Fund and FTLOO have been such a huge help.

News SM/CM Genome Studies.

The more you think about this news the more exciting it is.

The UK CKCS CLUB AGM is to-day ,but compared to this latest SM/ CM Genome Studies discovery,does it really matter what happens at the AGM.

Let the Bickering go on at the AGM, but we Cavalier Lovers just should not forget about the important information that has has been given to the Cavalier World this week ,and just maybe the end is now in sight about the Cavaliers' SM Problem.

I think that what this all boils down to ,is the finding of the Gene that's causing SM ,and now it looks as if that's a possibility.

I think ,if I am understanding this information, this is what could be happening.