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Chinese doctors find new gene causing childhood blindness

By Li Xiaohong (People's Daily)

17:07, March 22, 2012

Edited and translated by People's Daily Online

Chinese doctors recently found a new gene – ABCB6 that causes congenital ocular coloboma, attracting attention of domestic and foreign researchers in related areas.

Congenital ocular coloboma is an important cause of childhood visual impairment and blindness, and is caused by the failure of optic fissure fusion at a 6-to-7-week embryonic age. At present, this genetic disease remains incurable.

Wang Lejin, a pediatric eye specialist at Peking University Third Hospital, and Yang Zhenglin, a professor at the Sichuan Provincial People's Hospital, found the ABCB6 gene after nearly 10 years of research on a Chinese family affected by congenital ocular coloboma and on 116 sporadic cases.

The discovery of the gene will help prevent the birth of children with congenital ocular coloboma through prenatal genetic testing, and lay a theoretical basis for future gene therapy for this disease.

Read the Chinese version at http://paper.people.com.cn/rmrb/html/2012-03/21/nw.D110000renmrb_20120321_9-13.htm

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blocks at 2012-03-22193.92.242.*
very nice :)
  

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