What exactly is “gene therapy”?

In recognition of Rare Disease Day, I thought I would spend some time discussing one of the promising avenues of treating rare diseases: gene therapy. You can learn more about NINDS efforts to address rare diseases from today’s post from NINDS Director Walter Koroshetz on his blog.

These days, you can hardly pick up a newspaper or listen to a radio without hearing something about gene therapy. Once the realm of science fiction, treatments that modify genetic material or its regulation are becoming a reality even as they are largely still experimental. But what is gene therapy; how do we separate the science from the myth; and what’s the big deal that prevents its being available to everyone who might benefit from it?

The term “gene therapy” refers primarily to three different kinds of treatments: treatment with sequences of genetic material called “antisense oligonucleotides”; insertion of a new gene into cells; and the editing of the genes that are already there. Each of these has their own potential applications and diseases and conditions for which they have been proposed as treatment. Each has different risks and side effects, some of which are yet unknown because they are largely experimental therapies. I will discuss each in turn.

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