China registers 780,000 rare disease cases

Updated: Oct 23, 2023 Xinhua Print
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BEIJING -- As of the end of September 2023, around 780,000 rare disease cases had been registered in China since the inception of a rare disease diagnosis and treatment service information system in 2019.

"This holds great significance in comprehending the epidemiology, clinical diagnosis, and medical support status of rare diseases within China," said Jiao Yahui, an official with the National Health Commission (NHC), at the ongoing 2023 China Conference on Rare Diseases.

About 80 percent of rare diseases have a genetic connection, and roughly 50 percent begin in childhood. Although the prevalence of individual rare diseases may be low, their substantial numbers can be attributed to China's large population.

In 2019, 324 hospitals were selected to establish a national collaboration network for rare disease diagnosis and treatment, implementing a two-way referral and remote consultation mechanism. Medical institutions at all levels are required to register rare disease case information through the rare disease diagnosis and treatment service information system.

In September 2023, China released an update of its rare disease catalog, with the total number of rare diseases included in the catalog reaching 207.

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