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Annie Allio, 7, who has Batten Disease, welcomes a visit
from Joy and Arrow at Lucile Packard Children’s Hospital.
Joy’s participation in the Tibetan Terrier DNA Bank
and a Batten Disease research project at MU may ultimately
offer help in the diagnosis and treatment of Annie’s
condition. Photos by Kersti Malvre
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Dogs
Help Children in the Fight to Overcome Debilitating Disease
By Jennifer Faddis
Like many women, Joy takes a while to get
ready for work. Shampooing, combing out, and blow drying alone
take about an hour. Joy holds down two jobs, and she likes to
look her best. In the evening, she does volunteer work at a children’s
hospital, and her “day job” is in genetic research.
A single mom with two of her kids still at home, Joy leads a very
active life.
But Joy is not your average career woman.
She is, in fact, a nine year-old Tibetan terrier. For eight years,
she’s been part of the pet therapy program at Lucile Packard
Children’s Hospital at Stanford University Medical Center,
where her warm personality and ability to do tricks provide the
patients and their families with a brief respite from their own
problems.
Joy is also a contributor to the Tibetan
Terrier DNA Bank and Registry at the University of Missouri-Columbia,
an ongoing multi-national program to collect DNA for research
and the development of genetic tests. And while Joy is in good
health, all purebred dog breeds have the potential to develop
several different genetic conditions. In the case of Tibetan terriers,
one of them is a condition called ceroid
lipofuscinosis, or CL.
An affected dog of Joy’s age might
have: vision problems; ataxia, or movement problems; and signs
of neurological deterioration, including dementia-like behavior
and periodic seizures. CL has a human equivalent called Batten
Disease.
To Catey Allio, 16, who “sees” the world through
her hands, Arrow’s visit offers her an opportunity
to feel how soft and cuddly he is.
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Originally conceived and developed by Stuart
Eckmann, the Tibetan Terrier DNA Bank has provided genetic material
and study subjects for a research project at MU under Martin
L. Katz, a professor who holds joint appointments in the School
of Medicine and the College
of Veterinary Medicine.
When Stuart and Lois Eckmann, Joy’s
owners, visit with a child who has Batten Disease, they know that
she’s helping in more ways than one. In addition to providing
a soft, cuddly diversion, Joy and all of the other dogs in her
breed’s DNA bank are making a significant contribution to
human Batten research efforts.
In a collaborative effort, Eckmann, who oversees
the Tibetan Terrier Club of America’s health programs, has
been referring owners of affected dogs to Katz. This has allowed
Katz and his colleagues in the veterinary college to examine these
dogs.
The cooperation of owners with end-stage CL
dogs has also allowed Katz to study retinal and neural tissue
for the presence of the characteristic “inclusions”
found in CL-affected tissue. The result has been that they’ve
been able to offer a much more complete description of the condition
than any existing veterinary textbook – a condition that
had previously eluded the diagnosis of many well-trained veterinary
neurologists.
In what is known as a “candidate gene”
approach, Katz sequenced the genes of affected Tibetan Terriers
in specific areas thought to be comparable to those where human
markers associated with the condition have been identified. Using
this approach, he was able to rule out mutations in known CL genes
as the cause of the Tibetan Terrier disease.
Identification of the CL mutation in Tibetan
Terriers will now require that the mutant gene be located by a
process called mapping, or linkage analysis. This involved detailed
comparison of the DNA from a large number of affected dogs with
the DNA of their parents and littermates.
“The purebred dog population
provides an ideal model for genetic research,” said Wayne
E. Ferguson, president of the American
Kennel Club Canine Health Foundation. “Their pedigrees
provide detailed multigenerational relationship information; their
shorter lifespans allow us to compress studies that would take
much longer with people, if they were even practical in their
design; and, more than any other species, their living conditions
are the closest to our own.”
Jessie Hynie, 11, who has lost some vision to Batten Disease
but still retains her bright outlook, hugs her dog Angel.
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The DNA bank and Katz’s CL study were
funded by the AKC Canine Health Foundation. To date, the foundation
has funded more than 275 studies involving 89 breeds of dogs at
54 different universities.
“As researchers complete the
canine genome map, we’re increasingly able to correlate
our research efforts with human studies. We expect the crossover
opportunities to be phenomenal. The Canine Health Foundation is
proud to support the research that will lead to longer, healthier
lives for our canine (and human) neighbors.” Ferguson said.
“Dr. Katz’s work with Tibetan
Terriers has the potential to ‘fast forward’ the entire
research process. The willingness of the dog owners to allow Dr.
Katz to study tissue samples provides a unique opportunity not
readily available from human studies,” said Lance Johnston,
executive director of the Batten
Disease Support and Research Association. “While we
sympathize with the dog owners who are experiencing the same things
with their dogs that we are with our children, we’re very
grateful to them for this opportunity to work together. We hope
that this collaboration will prove in one more way that the dog
is man’s best friend.”
That’s a pretty good bet, if Joy keeps
her day job.
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Last Update:
July 2, 2008
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