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本帖最后由 细胞海洋 于 2013-9-18 10:39 编辑 , M5 r# X) w% v6 Z2 W. K
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Genetic sequencing has established itself as a powerful tool for, Z. E" d6 C7 Q9 M5 l
diagnosis, but it is not yet clear how useful it will be for disease
) i/ q! E' |: K1 a3 xprevention or health management. A US$25-million project( x' U/ w8 }5 z4 M4 ^' w1 V
announced last week aims to explore that issue in perhaps the most+ h4 D) D9 X; v% F! O4 N( T- W
high-stakes patient group: newborn babies.
' a0 R" r+ b' ]4 n; LIn the Genomic Sequencing and Newborn Screening Disorders
' ^, u' h" _1 ^9 e0 m(GSNSD) programme, four teams will sequence the exomes — the$ P1 i# Q2 V" w5 ]5 ]* ^3 C
protein-coding portions of the genome — or the whole genomes of
1 u: |5 R) j8 r$ H6 Rmore than 1,500 babies, including not only infants who are ill, whether% ]( }; ^7 C( Z$ b2 J2 m
or not the disease has been diagnosed, but also healthy babies. The
0 |$ t' m3 K& E3 Oprogramme is funded by the US National Human Genome Research, F8 e6 Z9 I4 ~ U* e
Institute and the Eunice Shriver Kennedy National Institute of Child
6 J4 g! A- L4 G- n/ s9 B; R5 RHealth and Human Development (NICHD). The studies will examine& P$ C0 Z# h/ u0 i, K& E! c0 F
how useful sequencing information is for families and doctors, and& H4 c5 U% @& f) Y
whether it is superior to data gathered through conventional newbornscreening, i, Y: h8 m# Z+ c# {! c% n) t$ b1 ]7 [
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
