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LIBRARY:HunterAltschulaer08.pdf...common SNPs have a small effect on enzyme activity (perhaps limited by natural selection), whereas drugs aimed at this mechanism are able to inhibit the enzyme to a much greater degree. Thus, the small relative risks observed for SNP variants in genomewide association studies do not imply that the biologic impact of their discovery is necessarily also small. If these arguments are correct, they highlight one of the great translational research challenges of our time: localizing human disease genes, sequencing to identify causal mutations, and using this information to develop mechanistic understanding, clinically useful risk prediction, and therapeutic proof of concept. Many complementary approaches must be pursued in parallel: ... Rather than seeking a new twist on a long-studied pathway or asking whether discoveries in model organisms are relevant to humans, researchers can explore the bounty of genes proven by genomewide association studies to have relevance to human health and disease. Our challenge will be to develop research methods that take us from genetic localization to medically useful application, ... | ||||||||
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Some quoatable scientific itemsLIBRARY:HunterAltschulaer08.pdf...common SNPs have a small effect on enzyme activity (perhaps limited by natural selection), whereas drugs aimed at this mechanism are able to inhibit the enzyme to a much greater degree. Thus, the small relative risks observed for SNP variants in genomewide association studies do not imply that the biologic impact of their discovery is necessarily also small. If these arguments are correct, they highlight one of the great translational research challenges of our time: localizing human disease genes, sequencing to identify causal mutations, and using this information to develop mechanistic understanding, clinically useful risk prediction, and therapeutic proof of concept. Many complementary approaches must be pursued in parallel: ... Rather than seeking a new twist on a long-studied pathway or asking whether discoveries in model organisms are relevant to humans, researchers can explore the bounty of genes proven by genomewide association studies to have relevance to human health and disease. Our challenge will be to develop research methods that take us from genetic localization to medically useful application, ...subsub level topic
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