In Our Blood: A Profile of Stuart Orkin

By unraveling the molecular underpinnings of inherited blood disorders, the Boston Children’s Hospital researcher has provided the basis for therapies now being tested for beta-thalassemia and sickle cell disease.

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In the late 1970s, Stuart Orkin’s research landed him on the front page of The New York Times—and in a bit of hot water with a few colleagues. Orkin, then a newly minted assistant professor of pediatrics at Harvard Medical School and Boston Children’s Hospital, was developing a way to prenatally diagnose genetic disorders using DNA from the fetus. He was working with Boston Children’s hematologist David Nathan, as well as with collaborators at Yale who had developed a clinical technique to draw blood directly from a fetus during the second trimester using a fine needle. The technique “was quite a tour de force at the time,” Orkin recalls, but it was also risky, increasing the chance of miscarriage.

Despite the risk, the researchers wanted to use the technique to help a family from Turkey that had been referred to Nathan. The family carried a deletion ...

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    Anna Azvolinsky

    Anna Azvolinsky is a freelance science writer based in New York City.

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