China has made "remarkable progress" in rare disease governance and is fast becoming a major player in global biomedical innovation, said Marc Dunoyer, chief strategy officer of AstraZeneca and CEO of its rare disease arm, Alexion.

"Addressing rare diseases fits squarely within China's priorities — health equity, innovation and child welfare," Dunoyer told China Daily. "When we talk about health for all, that naturally includes those living with rare conditions."

Over the past few years, China has developed a comprehensive rare disease ecosystem, spanning policy, diagnosis, treatment and insurance coverage, reflecting the broader ambition of the Healthy China 2030 strategy to make healthcare more equitable and innovation-driven.

At the 2025 China Conference on Rare Diseases held in Beijing in September, new data highlighted this progress. The national rare disease catalog has expanded to 207 conditions, while nearly 100 therapies are now covered by the national medical insurance system. The country's collaborative diagnosis and treatment network has grown to 419 designated hospitals and more than 620 have joined the national rare disease reporting platform.

In 2024, China's medical insurance fund allocated 8.6 billion yuan ($1.2 billion) to reimburse rare disease drugs — accounting for about 7.7 percent of total pharmaceutical spending that year.

"Expanding access to diagnosis and treatment not only helps prevent families from falling into poverty due to medical expenses," Dunoyer said, "it also stimulates innovation in areas such as gene and cell therapy."

Dunoyer said that roughly 70 percent of rare diseases are caused by single-gene mutations, making them testing grounds for next-generation biomedical technologies such as gene and cell therapies, RNA medicines and precision treatments.

"Research in this field is pushing the boundaries of science," he said. "Progress in rare diseases often leads to advances that benefit the broader healthcare system."

While China's progress has been significant, Dunoyer said affordability remains a challenge. "Based on international data, the financial strain on a rare disease family can be more than six times that of one managing a chronic condition," he said. "It's simply impossible for patients to shoulder such costs alone."

Dunoyer said he believes China is well positioned to create its own solutions. "By developing innovative financing mechanisms and sustainable payment models, China can ensure long-term access for patients while maintaining incentives for innovation," he said.

AstraZeneca was among the first multinational pharmaceutical firms to invest deeply in China's healthcare sector. Through Alexion, it has launched three breakthrough therapies across five rare disease areas, two of which have already been added to the national reimbursement drug list.

The company is conducting more than 10 global Phase III clinical trials in China and supports 139 Centers of Excellence nationwide, including a pilot program for neurofibromatosis type 1 in Qingdao, Shandong province.

In October, AstraZeneca inaugurated its new global strategic research and development center in Beijing, a $2.5 billion investment that underscores its confidence in China's innovation ecosystem.

"We continue to invest with local partners and research institutions," Dunoyer said. "Chinese innovation is now contributing not only domestically but to global medicine."

Despite notable progress, Dunoyer said there is still much to be done. "Globally, therapies exist for only about 5 to 10 percent of known rare diseases," he said. "That leaves around 90 percent still waiting for solutions."

He added that China's long-term commitment to equity, innovation and pediatric health will have far-reaching implications. "China's efforts will not only transform patients' lives at home," he said, "but also help shape the next generation of medical breakthroughs worldwide."

lijing2009@chinadaily.com.cn