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本帖最后由 细胞海洋 于 2013-9-18 10:39 编辑
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~5 G( c$ f7 F, V+ K) w# gGenetic sequencing has established itself as a powerful tool for- t3 l' H( m3 S6 Z! S% ? i2 w) h
diagnosis, but it is not yet clear how useful it will be for disease
7 y0 _: D) s2 D& b8 x# m! ?prevention or health management. A US$25-million project0 e5 Q& G' }& H/ }0 C4 J, V
announced last week aims to explore that issue in perhaps the most
0 R6 z' q. c* i) k8 k1 Lhigh-stakes patient group: newborn babies.) z8 }! |( f m8 e7 s0 S8 U7 D
In the Genomic Sequencing and Newborn Screening Disorders
& L% F% n5 G' O/ ~6 c(GSNSD) programme, four teams will sequence the exomes — the
X$ N: ]2 Y: q: \# v( L4 hprotein-coding portions of the genome — or the whole genomes of! e* |+ c6 z7 m R0 r" j6 F/ u
more than 1,500 babies, including not only infants who are ill, whether% ~; l3 L2 P2 B/ o
or not the disease has been diagnosed, but also healthy babies. The s! W4 }4 n+ P9 \: u @7 V! h" M
programme is funded by the US National Human Genome Research% Z4 D. d: H* s! X% D) [
Institute and the Eunice Shriver Kennedy National Institute of Child
8 a' C6 j8 V( [' gHealth and Human Development (NICHD). The studies will examine, _! z& E3 c# q1 _0 ]9 Y& U
how useful sequencing information is for families and doctors, and
) T5 W8 N& b8 {3 [0 K/ W2 n0 K! Rwhether it is superior to data gathered through conventional newbornscreening: ~, U6 B% F$ v# G5 H" v
methods, which check for about 60 genetic disorders.8 m' C+ z) _# K: i3 v
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发表于 2013-9-18 10:11
发表于 2013-9-22 08:22
