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本帖最后由 细胞海洋 于 2013-9-18 10:39 编辑 ( \% [6 O. S' r* b& Q- J- f
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Genetic sequencing has established itself as a powerful tool for
& H/ l. L. Y) r% k9 B4 gdiagnosis, but it is not yet clear how useful it will be for disease
# x+ W/ p$ z/ H. t# R! lprevention or health management. A US$25-million project
( F( |% g J4 s8 hannounced last week aims to explore that issue in perhaps the most; d X) G7 T/ ^7 F
high-stakes patient group: newborn babies.6 M: V, v6 B* H3 M' ~
In the Genomic Sequencing and Newborn Screening Disorders
+ _4 P' I7 T! x2 {, }, M/ k/ }(GSNSD) programme, four teams will sequence the exomes — the
, w A! G B% uprotein-coding portions of the genome — or the whole genomes of
2 o; P. C% `# Jmore than 1,500 babies, including not only infants who are ill, whether: r" H% o4 O8 X: A
or not the disease has been diagnosed, but also healthy babies. The% l& y1 O4 L' M4 F6 D7 m( P
programme is funded by the US National Human Genome Research
# p) B$ @9 h+ D% hInstitute and the Eunice Shriver Kennedy National Institute of Child
) `. ]' c2 g& h+ ?Health and Human Development (NICHD). The studies will examine. W5 ]; S$ O' R9 W
how useful sequencing information is for families and doctors, and7 p# s. m& q: g+ ^2 j$ U1 a
whether it is superior to data gathered through conventional newbornscreening8 ^' ] z( b8 d# ]; A6 U
methods, which check for about 60 genetic disorders.
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发表于 2013-9-18 10:11
发表于 2013-9-22 08:22
