| 查看: 510 | 回复: 4 | |||
leiking木虫 (正式写手)
中医药
|
[交流]
【Share】GENOME-SEQUENCING ANNIVERSARY
|
|
Faces of the Genome When the draft sequence of the human genome was published in February 2001, Nature adn Science featured human faces on their covers. As striking as these images were, they could be seen as more art than science, because systematic genome-wide sequencing had yet to be applied to individuals for medical purposes. What a difference a decade makes. Real faces are now appearing that demonstrated the medical value of comprehensive genome sequencing. Researchers with NIH's Undiagnosed Diseases Program recently identified a genetic cause for a rare and debilitating vascular disorder that had baffled the medical field and evaded diagnosis. The discovery was spurred by the cases of Louise Benge and Paula Allen, two middle-aged sisters from Kentucky who had calcification of the large blood vessels and joints in their hands and feet, in the absence of any effect on coronary arteries. Thanks to genomic analyses (just published in the New England Journal of Medicine), they now know that their severe leg and joint pain stems from a mutation in NT5E, which encodes a protein that converts AMP to adenosine. Better understanding of the disease mechanism will help to guide development of treatments for such patients as well as illuminate metabolic pathways involved in calcification. |
回复此楼» 猜你喜欢
食品与营养（0955）271求调剂
已经有12人回复
-
245求调剂
已经有8人回复
-
290求调剂
已经有18人回复
-
生物学308分求调剂（一志愿华东师大）接受跨专业
已经有10人回复
-
本科211，报考085601-310分
已经有13人回复
-
生物学调剂
已经有3人回复
-
求调剂
已经有11人回复
-
材料工程085601，270求调剂
已经有44人回复
-
085600材料与化工329分求调剂
已经有25人回复
-
药学305求调剂
已经有3人回复
★
小木虫(沙发+1，金币+0.5):恭喜抢个沙发，再给个红包
小木虫(沙发+1，金币+0.5):恭喜抢个沙发，再给个红包
 |
2楼2011-02-14 09:33:04
★
小木虫(金币+0.2):抢了个小板凳，给个红包
小木虫(金币+0.2):抢了个小板凳，给个红包
 |
3楼2011-02-14 09:34:07
三更雨~
木虫 (文坛精英)
- ESEPI: 42
- 应助: 0 (幼儿园)
- 贵宾: 0.493
- 金币: 3701.9
- 散金: 4830
- 红花: 31
- 沙发: 69
- 帖子: 11421
- 在线: 1091.2小时
- 虫号: 863892
- 注册: 2009-10-06
- 性别: MM
- 专业: 光谱分析
4楼2011-02-14 10:03:03
 |
5楼2011-02-14 19:23:06
