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October 27, 2004

James Gusella Honored

And who is James Gusella you ask?

He's the scientist who, building on and working with many other researchers, isolated the Huntington's gene a little over 10 years ago. His job was only slightly easier than 'finding a needle in a haystack' and he accomplished this in a fraction of the time it was expected to take.

Every year the Oregon Health & Science University gives an award to a neurological pioneer. This year it is Gusella and the Oregonian newspaper interviewed him:

How did you come to find the Huntington's gene?

Back in the early '80s, I began to approach Huntington's disease using a strategy that hadn't been applied to neurological disease, or really any disease, before. That was to find the chromosomal location of the disease just using inheritance patterns in the family and polymorphisms.

The first genetic marker we found correlated about 96 percent of the time with the disease. Then we found better ones, until we found a stretch that was inherited 100 percent of the time.

Because it was successful, the technique sort of set off a torrent of similar studies in other disorders.

Some people expected fast cures from this genetic medicine. Has it lived up to its promise?

I don't think the promise was misleading in terms of the ultimate impact. I just think it was misleading in terms of timing. I know, when we found a marker for Huntington's back in the 1980s, people predicted there would be a therapy within six months, and that was just crazy. The first thing that comes is (not treatments but) the ability for better diagnostics.

In Huntington's, we've had this gene now for 10 years. We understand what this defect is. We have some promising pathways to new therapies. But the disease is still invariably fatal.

Do you see similarities in discussions of stem-cell research?

I do think the concept that stem cells are going to be very useful in combating disease is true. But it's not going to be in the next year or two. I don't completely understand why, in trying to sell the promise of technologies, people have to over-promise the speed of technologies.

More here.

Posted by Dave at October 27, 2004 11:23 PM

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