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Tripping up Triplets - Prevention, Intervention, Basic Understanding
October 3, 2000 - Philadelphia, Pennsylvania
Prepared by Lisa J. Bain
Abstract
At a meeting preceding the annual meeting of the American Society for Human Genetics in Philadelphia, some 25 scientists studying triplet repeat diseases met to discuss how their work fits into a program of finding a cure. Several suppressors of polyglutamine pathology, including chaperone proteins, were proposed as potential targets for drug screening. In addition, new models were discussed, including cDNA, knock-in, and transgenic mouse models. Mechanistic investigations are also proceeding in an effort to better understand the pathogenesis of polyglutamine diseases and to reveal new therapeutic targets. Research suggests the importance of proteolysis, dendritic pathology, protein interactions, and a conformational shift in the mutant protein.
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