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October 29, 2016

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Research to prevent top child killer disease

LOCAL medical experts are starting the nation’s first genome research into congenital heart disease.

They will look for genetic causes and environmental factors that causes the disease with the aim of being able to detect it early so precise treatment can then be initiated.

Congenital heart disease affects up to 200,000 children annually in China, accounting for more than a quarter of the nation’s inborn congenital cases. It is also the top reason behind child death and disability.

Samples from 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, experts from Shanghai Children’s Medical Center, which is carrying out the program, said yesterday.

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

However, the disease’s exact causes remain a mystery, as the medical field only knows it can be related with genetic problems.

The genome sequencing research program — the first of its kind in the world — will spend three years collecting biological samples to do comprehensive research.

This is aimed at finding effective genetic targets for early detection of congenital heart disease during early prenatal checks, 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.

A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism.


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