A research update
By Clare Rusbridge and Penny Knowler
Stone Lion Veterinary Centre, 41 High Street, Wimbledon,
London, SW19 5AU
firstname.lastname@example.org (CR) Confidential Fax: 020
We have made amazing progress thanks to the wonderful
foresight from committed owners, breeders and vets from
around the world. After only one year of collecting DNA we
have over 500 samples from a database of 8,000 cavaliers.
This includes DNA from over 50 confirmed cases and over 60
related unconfirmed cases. A breed genetics complexity
survey is being undertaken by the Mammalian Genotyping
Service at the Marshfield Clinic, Wisconsin, USA,
identifying 800 DNA markers. Analysis of this data by Dr
Guy Rouleau's team in Montreal will take 1-2 months.
Meanwhile he has asked that we continue to collect as many
cases of Syringomyelia and MVD as possible. All DNA/Blood
is now being centralized at the McGill University Health
Centre, Montreal -- see address below. We are extremely
grateful to the Canadian team in helping to achieve this
exciting first stage in less time than one Cavalier
generation. The difficulty of the task ahead cannot be
overestimated. Never before has a complex inheritance such
as Syringomyelia or MVD been addressed and we are breaking
new ground. A poster presentation of our achievements and
those of the cavalier community worldwide was given by
Clare at the Advances in Canine and Feline Genomics 2nd
International Conference in Utrecht, October 14, 2004. It
aroused a great deal of interest. As a direct result, she
has already helped set up a collection for a number of
Our second research paper Inheritance of occipital bone
hypoplasia (Chiari 1 malformation) in Cavalier King Charles
spaniels has been published in the American Journal of
Veterinary Medicine (JVIM 2004; 18: 673-678). Reprints are
being sold in aid of SM research and can be obtained from
Penny Knowler (address/email at top of page) It outlines
the observations made from a pedigree analysis of the
family tree as it existed in July 2003, containing 120
cases of SM and 40 cases of idiopathic epilepsy. A
consistent observation with the present time is that all
affected dogs have 3-4 grandparents descended from lines
with known carriers in them. The degree of syringomyelia is
quite variable. The most severe cases have considerable
spinal cord damage and are significantly disabled by 12
months of age. In contrast, some have no clinical signs and
a small syringomyelia which is only detectable by MRI or
post mortem. The disease appears to be more severe and have
an earlier onset with increased inbreeding. Geneticists
agree that an understanding about the inheritance cannot be
based on pedigree analysis alone.
The health committee of the UK Cavalier Club has been
working extremely hard and is always on hand to answer
queries and to offer support to its members and to us.
Thanks to the sponsorship of Boehringer Ingelheim
(producers of Vetmedin®), they were able to
arrange health clinics for heart & eye
testing in different parts of the country. They also
took the opportunity to arrange a blood donation
session at the clinic at Banwell in September. Twenty two
dogs over 4 years old volunteered, including some
oldies with clear hearts (which are helpful for the MVD
research), and one or two younger dogs who were picked
by the Cardiologist as being
of particular interest. Simon Swift, the
'Club Cardiologist', kindly helped the owners
fill in the heart and syringomyelia details
required, while the rest of the paperwork was completed
with the assistance of the veterinary nurse. At the end of
the day Simon took the blood & forms back to
his clinic and posted the phenotype forms to
Clare Rusbridge before the forms & blood were sent
off to the UK DNA Archive.
The Fund has already benefited from the proceeds from
a sponsored weight loss and a short sponsored walk.
Christmas Cards with an exclusive design featuring all four
colours of cavaliers are also on sale. All proceeds will go
to the Research Fund.
Support continues to come from all over the world. The UK
Cavalier Club has received some extremely
generous donations for the Research Fund including
2000 Australian dollars from the Cavalier KCS
Club of Victoria. We are also extremely delighted to
be receiving blood from two more European countries,
Germany and France. The people involved are so determined
to help the cavalier breed that they have taken the time
and trouble and expense to arrange their own clinics and
Dedicated cavalier breeder Dana Schuller-Kuyper in Holland
has opted to have a diagnostic MRI performed on her
breeding dogs in order to ensure the best selection for
health. DNA from these cavaliers has enormous value to the
research because SM status is confirmed.
Positioning the cavalier carefully is important to obtain
the best possible image from the MRI scan.
Dutch vet, Hayo van Geervliet, draws blood from the jugular
vein of a very accommodating cavalier held by Pirkko.
Details of the UK collection can be found on
Blood Donations are needed from our target groups SM and
Please send a copy of phenotype form and pedigree to Clare
Rusbridge address above This is needed to provide an ID#
for use by the UK Archive and the researchers in Canada.
Include any medical notes for MRI or Cardiologists reports.
It is essential to have accurate information, please update
your Phenotype Forms if the status of your dog has changed,
(E.g. confirmation of diagnosis) – send to Clare!