Nation’s first genome research on congenital heart disease launched

By Cai Wenjun | October 28, 2016, Friday |

Online Edition

LOCAL medical experts kicked off the nation’s first genome research on congenital heart disease in order to look for disease-leading genetic causes and environmental factors, to raise possibilities for early detection, intervention and precise treatment.

Samples of a total of 2,000 patients and their parents as well as 500 healthy people will receive full genome sequencing for comparative study to find mutated genes and risky factors during pregnancy causing the most prevalent inborn deformity in China, experts from Shanghai Children’s Medical Center, which carries out the program, said today.

Congenital heart disease affects up to 200,000 children annually in China, covering over one fourth of the nation’s inborn congenital cases. It is also the top reason for young children’s death and disability.

“Heart is the earliest organ which is formed and starts working during fetal develop and any genetic mutation and risky influences from the environment can impact heart’s normal development and cause congenital heart disease,” said He Lin, an academician of Chinese Academy of Sciences, leader of the program.

However the disease’s exact causes remained unknown, as it is so far only known that it can be related to genetic problems, risky factors like virus, radiation and chemicals, big negative mental events as well as a lack of certain nutrients during pregnancy.

The full genome sequencing research will take three years to collect biological samples to do comprehensive research in order to find effective genetic targets for early detection of congenital heart disease during early prenatal check, to offer earlier intervention and guidance and help new drug development, said Dr Jiang Zhongyi, president of Shanghai Children’s Medical Center, one of the world’s largest congenital heart disease diagnosis and treatment centers.

Health and Science

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Nation’s first genome research on congenital heart disease launched

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