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Medicine's Future Could Lie in Each Patient's Genome
Date:3/11/2010

ue as a diagnostic technique for all these individuals and families who have what looks like an inherited disease but not a big family history."

And, Vance pointed out, genes don't change like cholesterol and blood pressure do. These tests would only have to be performed once.

The predictions are based on breakthroughs reported this week in two journals, the New England Journal of Medicine and Science.

Dr. James Lupski, vice chair of molecular and human genetics at Baylor College of Medicine in Houston, was both the lead author and the subject of the NEJM study. Lupski suffers from a genetic disorder, Charcot-Marie-Tooth syndrome, which affects nerve function.

By sequencing his genome, the NEJM authors were able to trace the disorder to mutations in copies of the SH3TC2 gene he and three siblings inherited from healthy parents.

For Lupski, who already knew he had this disease, the findings probably don't come as much of a shock. But suppose people don't know they have this or another single-gene conditon?

In the old days -- meaning last week -- experts would have had to suspect which disease the patient had, then hone in on the area of the genome thought to be associated with the disorder. Even then, the results could be far from certain.

"The breakthrough is that now we would be able to make this diagnosis without having any preconceived idea that the patient had Charcot-Marie-Tooth disease," Marion said.

The second team of researchers sequenced the genomes of two parents and two children from the same family with single-gene diseases. They reported that only 60 of the three billion base pairs in the human genome mutate randomly each generation. That's about half the rate of mutation that was thought to be passed generation to generation.

How were scientists able to make these leaps?

One big factor has been the advent of new technology with the
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