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leiking

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[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.

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