Citizens for
Alternatives to Animal Research and Experimentation (CAARE)
December 2015
What if we devoted greater resources to advanced genetic testing for more rare diseases, with the goal of someday testing every rare disease? How many more people could be saved? Woefully, vast resources are devoted instead to genetic manipulation of animals. Here’s just one example. The National Institutes of Health announced plans in October to award up to $85.2 million to institutions to conduct research into “knockout mouse production.”
Dramatic cures are rare, but when then occur, they often provide insight into what the future of medicine holds possible.
Precision medicine – examining an individual’s genetic makeup to tailor personal diagnosis and treatment – is one of the most promising areas of medicine.
When a fifteen month old child was brought in for sudden extreme
symptoms, her doctors were stumped. The child, who until then had been
healthy, had developed a disturbing complex of symptoms that included
extreme upper body weakness, so profound she couldn’t move or lift her arms
and had trouble holding her head upright. She couldn’t walk properly and
drooled continuously.
Treatment with steroids produced no improvement, so she was referred to
doctors at Columbia University Medical Center to do genome sequencing to
look for a genetic abnormality.
And that’s when everything changed.
Through an advanced genetic technique known as exome sequencing, the toddler
was found to have a rare disorder.
A scientist performs exome sequencing. Photo Credit: CUMC
In her case, the gene abnormality resulted in a severe vitamin B2
deficiency, causing her to develop a rare and usually fatal
neurodegenerative disorder. The disease could not have been diagnosed with
normal blood tests because the deficiency occurs inside the red blood cell,
while the circulating blood is completely normal.
She was started on vitamin B2 supplements and within weeks her symptoms
began to improve dramatically. She regained the use of her hands and arms,
able to raise them fully overhead.
A child is successfully treated through genome sequencing. Photo Credit:
CUMC
"Transformational," was the word that her doctor, David B. Goldstein,
M.D., Director Institute of Genomic Medicine at Columbia University used to
describe her recovery. “Almost immediately, after initiation of the
treatment, the deterioration of all symptoms stopped.”
“We really have this incredible convergence of new technologies that allow
us to model disease in individual patients, said Dr. Goldstein, “and that
means the number of genetic diseases that we can develop treatments for will
just increase.”
What if we devoted greater resources to advanced genetic testing for more
rare diseases, with the goal of someday testing every rare disease? How many
more people could be saved?
Woefully, vast resources are devoted instead to genetic manipulation of
animals. Here’s just one example. The National Institutes of Health
announced plans in October to award up to $85.2 million to institutions to
conduct research into “knockout mouse production.”
Knockout mice have a gene removed for the purpose of examining what
effect that will have their physiology, most often to create models of human
disease. The NIH proposal calls for generating up 3,000 genetic lines of
knockout mice over a five year period.
Scientists have been using genetically modified mice for decades. Apart from
being a multi-million dollar industry, mouse models of human disease do not
accurately simulate human medical conditions.
This prompted former NIH director, Elias Zerhouni to call for scientists to
“stop dancing around the problem” with knockout mouse studies and address
the real problem of human disease in humans.
Not every disease identified with genetic testing will have a simple and
straightforward treatment with such high effectiveness as the story of this
one child. But how many patients are not being treated properly because they
did not receive necessary genetic testing?
Isn’t it time we put more resources into advanced gene technologies to learn
more about human disease, sequencing the genomes of every rare disease
possible, and not for manipulating mice?
Return to Alternatives to Animal Testing, Experimentation and Dissection