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Dr. George Lees, professor of Veterinary Internal Medicine at
the College of Veterinary Medicine and Biomedical Sciences at Texas
A&M University (CVM) and his team, along with Dr. Keith Murphy,
former colleague at CVM, answered questions for a grieving pet
owner as they discovered another form of hereditary nephropathy
(HN), an inherited disorder that damages tiny blood vessels in the
kidneys that help filter blood, in a different canine breed - the
English Springer Spaniel.
In 2007, after a 15-year discovery process, Lees and his team
patented a genetic test to identify carriers of HN in English
Cocker Spaniels. Their efforts and research lead to the eradication
of this inherited kidney disease through selective breeding in
English Cocker Spaniels.
In 2009, Katherine Perry, owner of two English Springer Spaniels
- Ginger and Coco, was referred to Lees when her puppies showed
signs of a kidney problem. Lees evaluated both dogs and he quickly
determined that they did have a similar disease that would shortly
take their lives.
"What I learned from the first discovery was that the end of the
disease was so short," explained Lees. "HN is similar to an
avalanche because it starts off slow, but the end is so fast and
The dogs died shortly after the initial visit with Lees. Lees
asked for Perry's permission to take their kidneys and DNA to
conduct further research.
Perry allowed Lees and his team to do research on her dogs
because she wanted her questions answered. She wanted to know why
they died so young. Her dogs were less than a year
"I did get my answers," said Perry. "Until this situation
occurred, I never understood nor appreciated the detail and
dedication involved in medical research. When I was first informed
of the possibility of having the girls' kidneys researched, I
assumed that it was going to be a cold and calculated business
agreement. Never did I imagine that this team would be so
understanding, gentle, sincere, or compassionate. The needs of the
girls were their priority. After the girls were gone, their focus
was on finding out how this disease originated."
"Initially we tested the dogs' DNA for the abnormality that
affects English Cocker Spaniels, "explains Lees. "But we found that
the English Springer Spaniels did not have the same DNA abnormality
as the English Cocker Spaniel, so we continued with our research.
We finally discovered their specific mutation in about a year. Then
we went to the dogs' family to try to find a pattern of DNA
abnormalities that was consistent with their
They found out that the disease is recessive. There are a lot of
carriers, but few are affected. However, the results can be
devastating for the affected dogs as there is no cure for them and
their lives are severely shortened.
"The cause of the disease is a condition that is known as Alport
syndrome in people, but it is usually called hereditary nephropathy
or 'HN' in dogs," said Lees. "In both people and dogs, this disease
is caused by defects in the genes that encode type IV collagen,
which is a protein that is an important structural component of the
parts of the kidneys (called glomeruli) that filter the
Armed with information provided by Lees and his team about the
genetics status of related dogs, the breeders of the English
Springer Spaniels who were affected have been able to breed their
dogs selectively so that no other HN cases have occurred in their
English Springer Spaniels.
"I would highly recommend Dr. Lees and his team to anyone who
has a sick pet," said Perry. "Several months after the girls were
put down, I received a package from the clinic with two hand
painted clay forms of the girls' actual paw prints. This thoughtful
gesture touched my heart in a way words could not convey. Lees and
his team are an exceptional group of individuals; very caring and
Lees explained to Perry the importance of understanding the
origin of the disease by conducting further research. Even though
Perry was overwhelmed by the process, she understood that she
needed to allow the research to continue so that it could benefit
other dogs in the future.
"It is important to develop an understanding of genetics and to
conduct selective breeding to eliminate the problem," said Lees.
"When a dog gets sick, it takes time to do an investigation and to
characterize the disease. Many diseases remain an unsolved problem.
We, at CVM, set ourselves apart because we have the expertise and
are able to spend the extra time needed to pursue problems like
this to the point of understanding their root cause. This permits
us to build a better future than would otherwise be possible."
"I realized that Ginger and Coco were brought into our lives for
a purpose," explains Perry. "At the time, I assumed it was because
they were going to need a lot of extra tender loving care. I never
dreamed my selfish search for answers would benefit other animals.
I encourage anyone who has a pet with a terminal illness to find
out what created the illness. By doing so you can prevent other
animals from having to suffer."
Texas A&M University, College Station, Texas 77843
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