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A Revolution in Medicine: The Search for Cures: From Oncology to Infectious Disease, Genetic Science Is Transforming Medical Practice. the Dream of Outfitting People with Therapeutic Genes May Still Be Decades Away, but Scientists Are Finding Simpler Ways to Harness the Power of DNA

Newsweek, April 10, 2000 | Article details

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A Revolution in Medicine: The Search for Cures: From Oncology to Infectious Disease, Genetic Science Is Transforming Medical Practice. the Dream of Outfitting People with Therapeutic Genes May Still Be Decades Away, but Scientists Are Finding Simpler Ways to Harness the Power of DNA


Ann Miscoi had seen her father and her uncle die of organ failure in their mid-40s, so she figured she was lucky to be living when she turned 50 last year. The trouble was, she felt half dead. Her joints ached, her hair was falling out and she was plagued by unrelenting fatigue. Her doctor assured her that nothing was seriously wrong, even after a blood test revealed unusually high iron levels, but Miscoi wasn't so sure. Scanning the Internet, she learned about a hereditary condition called hemochromatosis, in which the body stores iron at dangerous concentrations in the blood, tissues and organs. Hemochromatosis is the nation's most common genetic illness, and probably the most underdiagnosed. As Miscoi read about it, everything started making sense--her symptoms, her blood readings, even her relatives' early deaths. So she found a doctor who would take her concerns more seriously.

Until recently, diagnosing the condition required a liver biopsy--not a procedure you'd undertake lightly. But Miscoi didn't have to go that route. Scientists isolated the gene for hemochromatosis a few years ago, and developed a test that can spot it in a drop of blood. Miscoi tested positive, and the diagnosis may well have saved her life. Through a regimen of weekly blood lettings, she was able to reduce her iron level before her organs sustained lasting damage. She's now free of symptoms, and as long as she gives blood every few months she should live a normal life span. "Without the DNA test," she says, "I would have had a hard time convincing any doctor that I had a real problem."

Hemochromatosis testing could save millions of lives in coming decades. And it's just one early hint of …

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