Word: defectiveness
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After a frantic search lasting more than a decade, Harvard Medical School researchers will report this week that they have located the elusive genetic defect responsible for Huntington's disease...
...defect is a short repeated sequence of DNA, just three base pairs of the millions which make up each human chromosome. With the finding, a quicker and more inexpensive test for the devastating degenerative disease of the central nervous system, and eventually a better understanding of the disease mechanism, may lead to a cure...
James F. Gusella, professor of genetics and a leading collaborator in the 10-institution search, said in a telephone interview yesterday he felt "great relief" upon discovering the defect responsible for the usually fatal disease, which killed folksinger Woody Guthrie...
...opens possibilities for taking the defect of the disease that causes cell death and having the pathway worked out for steps to target for treatment," said Gusella, who nine years ago discovered the general location of the defective sequence...
...latest issue of the New England Journal of Medicine, a team of researchers from Hungary report that women who consume 0.8 mg of folic acid, a B vitamin, for at least a month before they conceive have a dramatically lower risk of bearing a child with a neural-tube defect. Although the link between folic acid and neural-tube defects has been made before, this landmark study of 4,156 women is the first to show that the malformation can be prevented -- even in women who have no previous history of bearing children with neural- tube defects...