| 查看: 516 | 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
急需调剂
已经有9人回复
-
申博/考博
已经有4人回复
-
化工学硕294分，求导师收留
已经有37人回复
-
求调剂
已经有11人回复
-
260求调剂
已经有4人回复
-
一志愿华中农业071010，320求调剂
已经有19人回复
-
304求调剂
已经有7人回复
-
求博导｜生物质基多孔碳/超级电容方向，已有相关成果，寻能源材料/碳材料方向老师
已经有3人回复
-
二苯甲酮酸类衍生物
已经有6人回复
-
接受任何调剂
已经有4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
20