Xinhua hospital leading the nation in research into rare diseases in kids

The hospital is the first in the nation to introduce whole-genome sequencing in the study of rare diseases in children.

Shanghai’s Xinhua Hospital will be the first in the nation to kick off whole-genome sequencing for research into rare diseases in children and is working with domestic authorities on establishing guidelines to regulate the diagnosis and treatment of such diseases.

The research will focus on the mechanism of inherited diseases through whole-genome sequencing and help screen biological markers for new drug development.

“We will also build clinical guidance to direct the adoption and practice of whole-genome sequencing in domestic hospitals and set up a genetic database of children’s rare diseases in China,” said the hospital's Dr. Yu Yongguo, a leading research scientist.

There are 6,000-7,000 known rare diseases in the world and about 80 percent are caused by inherited problems. Half the patients show symptoms upon delivery or in childhood.

The reasons for the majority of rare diseases are still unknown. There are over 16.8 million people with rare diseases in the nation.


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