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Some quotable scientific items | ||||||||
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...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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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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Contents
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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