Xinhua Hospital Launches Rare Disease Education Programs

Nearly 90 percent of the 7,000 annual patient visits to Shanghai Children's Rare Disease Diagnosis and Treatment Center are from outside Shanghai, including expatriate children.

In addition to clinical services, the center at Xinhua Hospital develops medical foods. It has collaborated with top local food companies to develop nutritional supplements for children with rare diseases or special physiological conditions.

During World Rare Disease Day, the hospital launched a series of rare disease education programs and discounted medical foods for local families with methylmalonic and propionic acidemia to help them financially.

Globally, there are over 7,000 known rare diseases. China alone has over 20 million patients, growing by 200,000 annually. Over 80 percent of these conditions are genetic, and over half of patients develop symptoms in childhood, requiring lifelong care and straining families.

China started recognizing rare diseases like methylmalonic and propionic acidemia. These inherited metabolic disorders impair valine and isoleucine breakdown, so long-term treatment involves protein restriction.

"We've worked with food companies to develop and introduce medical foods tailored to patient needs," said Dr Cai Wei of Xinhua Hospital, a national medical food research and development leader.

To date, the hospital and its partners have successfully commercialized eight medical food products for patients with rare diseases. These products are subject to strict usage guidelines; patients must attend regular hospital checkups and receive professional guidance on intake.

Xinhua Hospital offers high-quality monitoring and care to expatriate children with rare diseases, according to officials. A recently launched in-house AI-assisted rare disease diagnosis and treatment system is improving clinical practice in multiple hospitals nationwide.

"The AI system helps reduce lab turnaround times, lower medical costs, and enhance diagnostic accuracy. It is especially valuable for improving rare disease detection in grassroots medical institutions," said Dr Sun Kun of Xinhua Hospital, a lead developer of the system.