Gene Therapy

Scientists at Mt. Sinai Medical Center in
New York have successfully delivered a gene to mice with PKU and eradicated the
effects of this metabolic disorder. This might seem arcane to the casual
observer. But it’s a key to successfully treating hundreds of conditions that
are currently beyond treatment and are lethal effect to those with incomplete
genetic information.

…it’s almost like
we are just
one step away
from providing
major cures for
these kinds
of genetic diseases.
–Dr. Savio L. Woo

It didn’t get the same headlines as the clone research in South Korea a few days ago, but Reuters reports that scientists at Mt. Sinai Medical Center in New York have successfully eliminated the effects of PKU, phenylketonuria, in mice. PKU is an inherited metabolic disorder that predisposes children to profound mental retardation. This represents a major step in unraveling how to deliver missing genetic information to correct the damaging effects of missing enzymes, a common factor in genetic disorders. It’s one of the more vexing unresolved questions facing geneticists.

Research is identifying the missing information that results in many genetic disorders. In many, an enzyme necessary for metabolism to complete its full cycle is not present. Metabolism is short-circuited and, in severe instances, the results are great suffering and early death.

Today there is no effective treatment, in large part due to the inability to deliver enzymes into the circulatory system or other areas of the body where they are absorbed and contribute their part to the metabolic process. Finding the most effective delivery means has been a major challenge and it’s only partially solved with such treatments as the introduction of healthy stem cells, for example. The risk of infection and rejection in most major therapies is a significant impairment.

Several questions remain. Scientists must identify the genes with missing information, then identify the missing enzyme, or other matter, and find a way to deliver it and ensure that it is integrated and reproduces. With the mapping of the human genome, advances have been swift. More of the missing enzymes are being identified. But the problem of introducing replacements remains.

That’s why the Mt. Sinai research holds great promise. If geneticists can identify the missing information and also find an effective way to introduce it into the affected system in a targeted way, they will be able to alleviate the terrible suffering and destructive deterioration that results from metabolic disorders. It’s a hopeful and promising step.

It’s also an example of the value of therapeutic research and demonstrates why it’s so important to give scientists options for treatment and research to alleviate the worst effects of genetic disorders. Where gene therapy has been politicized, we need to de-politicize it. Where it has been attacked as unethical, we need to broaden the conversation and interpret its life-saving potential. To those who suffer physically and emotionally from genetic disorders, gene therapy holds hope for a better, more fulfilling life.

I can think of no more ethical and welcome endeavor than the work of geneticists who are engaged in providing knowledge that will allow children to grow tall, breathe deeply, walk straight, see clearly and enjoy life with clear minds.

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