Word: gusella
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...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...
...Gusella reports in Friday's issue of the journal Cell that he found Huntington's disease victims shared a "genetic stutter," an excessive repetition of a sequence of three nucleotide bases. The three-base segment has 11 to 34 direct copies in unaffected people, but anywhere upwards of 42 repeats in those affected...
...Ultimately, victims are bedridden and fed through a straw, since they can't swallow or chew," Gusella said. "The same cell death causes intellectual loss, memory loss, and psychiatric changes like impulsive behavior and chronic depression...
...Gusella and his colleagues analyzed hundreds of DNA samples from affected and non-affected individuals and families in an attempt to find the gene. Previously, he and his group had reported several "candidate defects" for Huntington...