The Children’s Hospital of Fudan University in Shanghai has admitted more than 200 children with hard-to-diagnose rare diseases from both China and abroad since opening its new research ward in July 2024, the hospital announced Thursday.
Rare and complex pediatric diseases often affect multiple organ systems, with about 72 percent having a genetic origin. These conditions are a leading cause of infant mortality, accounting for roughly 35 percent of cases. Diagnosing rare diseases is notoriously difficult, often taking four to eight years from the first symptoms to a confirmed diagnosis.
To tackle these challenges, the hospital established a 3,000-square-meter research ward with 60 beds. The ward has become a hub for cutting-edge medical care and research, offering personalized treatment plans for children. For example, earlier this month, a two-month-old baby from South Africa suspected of having Krabbe disease received a tailored treatment plan, including hematopoietic stem cell transplantation.
From July 2024 to November 2025, the ward has conducted 32 projects, including registered clinical trials and investigator-initiated studies, spanning 12 specialties such as neurology, hematology, nephrology, surgical oncology, hepatology, dermatology, and intensive care.
The hospital has now handled around 220,000 rare disease cases, covering about 30 percent of all known rare disease types.
“Efforts will continue to promote innovation in clinical research, basic translation, new technology applications, talent development, and the effective use of global collaborations and social resources,” said Wang Yi, president of the hospital.
She added, “By leveraging the comprehensive strengths of Fudan University, we aim to fulfill our role as a national children’s medical center and advance technology translation and innovative medical services to help more families with children facing rare and difficult-to-treat diseases.”
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