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本帖最后由 细胞海洋 于 2013-9-18 10:39 编辑 # t' Z: x% Q) ?+ B! Y3 }
: f2 d* o7 g6 p fGenetic sequencing has established itself as a powerful tool for3 E/ i0 [. m7 o5 |' b9 P
diagnosis, but it is not yet clear how useful it will be for disease. O8 {" o: f( W/ k- Q; E4 F* m- I
prevention or health management. A US$25-million project' L( D5 g- \0 ~& G
announced last week aims to explore that issue in perhaps the most
3 S4 ` {- d, v/ v8 n( g/ |high-stakes patient group: newborn babies.0 J$ r% w" ?! m( A( b
In the Genomic Sequencing and Newborn Screening Disorders
; J' E1 r5 Z4 A) V( g(GSNSD) programme, four teams will sequence the exomes — the7 c% `, v+ [% @$ h: I/ E5 B$ \
protein-coding portions of the genome — or the whole genomes of
8 n. Y( V4 D2 X" p$ I1 Rmore than 1,500 babies, including not only infants who are ill, whether5 s7 E( c4 @% c5 e/ u7 T% }, U
or not the disease has been diagnosed, but also healthy babies. The
! m2 Q3 f" ~/ P5 N- Kprogramme is funded by the US National Human Genome Research- g$ w1 g, n O' V* q
Institute and the Eunice Shriver Kennedy National Institute of Child: U8 K' q" ]" J& l; `
Health and Human Development (NICHD). The studies will examine
: M7 K0 t) K$ r2 N( _- Nhow useful sequencing information is for families and doctors, and! r# A. k* N" z% ~$ |4 Q
whether it is superior to data gathered through conventional newbornscreening# C& g' l% Y5 d9 Y$ j
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
