MVD to be included in CKCS genome scan project

MVD is now officially part of the international CKCS SM genome scan
project.

Gaining a better understanding of the genetic component of mitral
valve disease, and hopefully, the identification of the responsible
genes and creation of a genetic test, is now to be included in the
existing CKCS genome project underway in Canada. This is a very
significant new element of the research and comes after the initial
phase of the scan and analysis of genetic samples has indicated this
should be possible to do. This looks to be very exciting work,
providing a better understanding of both conditions and we all hope,
a way forward to tackle these conditions in the breed.

More information here, in the new newsletter from Dr Clare Rusbridge,
released today. I've posted it as a webpage:

http://sm.cavaliertalk.com/smnews2006.htm

From the molecular geneticist who has worked on the DNA samples:

"The first step which is genetic mapping is currently underway. Due
to the complex inbreeding in the CKCS, a preliminary genetic analysis
was necessary to evaluate the informativeness of the genetic markers
and hence the feasibility of a whole genome scan in such breed.
Consequently, 10 dogs were selected for genotyping with 122 markers
distributed among the 38 autosomes and X chromosome. The markers were
found to be sufficiently polymorphic and informative. Next, 200 dogs
were selected for a whole genome scan, primarily for Chiari
malformation. However with additional phenotypic information on
mitral valve disease, it is possible to use the same data to map the
gene(s) defective in this disease. The whole genome scan was
conducted at the Mammalian genotyping Center at the Marshfield Clinic
in Wisconsin, USA. The genotyping data will now be analyzed using
both linkage-based and association studies. In the latter, we will be
taking advantage of the founder effect demonstrated for both these
disorders in the CKCS breed.

This strategy involves: 1) genetic mapping of the underlying gene(s),
2) identification of these defective gene(s) using the positional
candidate gene approach and characterization of the mutation(s) and
3) initial functional characterization of the protein(s) encoded by
the gene(s). This will help better understand the underlying
pathogenic mechanisms for better diagnosis, prognosis and clinical
management of these devastating conditions. These studies will also
help unravel some of the complexity involved in this malformation in
humans and in the embryonic development of the affected structures."

UK Cavalier Club: New SM research initiative

Crossposted with permission:

UK Cavalier Club members had their 2006 AGM yesterday & our Chairman
also announced some new SM initiatives:-

The Club will be funding a research project by Dr Clare Rusbridge &
Dr Nick Jeffery that is designed to establish whether the position
of the dog's head in the MRI receiving coil could affect the
apparent severity of the malformations associated with syringomyelia
in the cavalier King Charles spaniel.
24 dogs & bitches belonging to Cavalier Club owners will be MRI
screened, at no cost to the owner. Details will be sent to all UK
members and they will all have the chance to apply for inclusion in
the scheme.

The MRI list on the Club's website will be opened up to include all
MRI scanned cavaliers. The owners will still need to volunteer the
names & send a copy of the scan report. Results can be blanked out
if wished, as no grades or results will be published.

To help raise awareness of the problem, the Kennel Club Genetic's
Coordinator has sent an article on SM, by Clare Rusbridge & Penny
Knowler, to 5,000 UK vets, by way of an email magazine. Leaflets
will be handed out from the KC stall at the BSAVA congress being
held this month.

The Club is intending to arrange an International gathering of
Neurologists and Cavalier owners. It is hoped it will be held at the
Royal Veterinary College, near London, at the end of this year, or
early next year, but plans are not yet finalised.

The possibility of funding a research position at the RVC is also
under consideration.

Yesterday was a good day for me. After all this time it is wonderful
to know that national clubs are accepting there is a problem & are
actively backing the efforts to find a solution.

Margaret Carter
Mareve Cavaliers
Hatfield, Herts, UK

Special SM MRI clinic, Washington State in July

This is the second time Dr Harrington has offered a special clinic for MRIing cavaliers (or other breeds) at a reduced cost. Please note this is for late summer of this year and is targetted at cavaliers at least two years of age, potentially intended for breeding. This was originally listed as an August event; please note the correct date is now July 29th.

Saturday, JULY 29, 2006
TACOMA, WA
from 8:00 AM
Drs. Michael Harrington and Kori Johnson

Clinic includes:

Clinical neurological exam by Dr. Harrington
Mini pre-anaesthetic blood panel
Radiological review of MRI scan
Copy of MRI scan to disk

Fee $1000. USD. May be paid by check, cash or credit card

Allow 2-4 hours for exam, MRI and anaesthetic recovery.
Appointments are every two hours from 8 am.
For breeding stock screening purposes, Cavalier should be at least
two years old.

Contact Patty Church at 425-252-6787 or Sarah34856@msn.com