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本帖最后由 细胞海洋 于 2013-9-18 10:39 编辑 ( ]5 w* a; K+ H
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Genetic sequencing has established itself as a powerful tool for
. t: M) N- A# Gdiagnosis, but it is not yet clear how useful it will be for disease2 l; n1 ?8 [. c7 e, B7 @! y
prevention or health management. A US$25-million project
& A0 R$ m4 A% L; ?( q! U0 z( sannounced last week aims to explore that issue in perhaps the most
+ j8 v, M/ M( m# K8 [high-stakes patient group: newborn babies.; U" U; _7 o" [4 ^/ E7 ^/ P
In the Genomic Sequencing and Newborn Screening Disorders: j- ^4 }, M7 k" q% |5 r
(GSNSD) programme, four teams will sequence the exomes — the0 U2 {1 s( H( a3 U( i: D. q
protein-coding portions of the genome — or the whole genomes of
! a+ X) I# _6 E) V' z3 n& }9 Bmore than 1,500 babies, including not only infants who are ill, whether8 w; N$ H8 }" e; f7 |! w
or not the disease has been diagnosed, but also healthy babies. The
; X( e6 `9 A c" {' J% \programme is funded by the US National Human Genome Research/ n. w$ b7 s! I2 U1 k6 A
Institute and the Eunice Shriver Kennedy National Institute of Child; j# k+ i6 }5 I2 @
Health and Human Development (NICHD). The studies will examine" Q. a- x+ w& Q3 }# i9 j
how useful sequencing information is for families and doctors, and ]6 a/ k( I$ d V
whether it is superior to data gathered through conventional newbornscreening
! Z5 T, o- V- b1 H2 H* r0 kmethods, which check for about 60 genetic disorders.: u$ h* q5 b" h) ]: ~
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发表于 2013-9-18 10:11
发表于 2013-9-22 08:22
