Rare diseases don't just impact individuals—they shatter families, drain savings, and challenge entire societies. But here's where China's inspiring journey could change everything, turning global underdogs into leaders in biomedical breakthroughs!
Imagine living with a condition so rare that doctors might never have seen it before. That's the reality for millions worldwide, including those with disorders like Huntington's disease or cystic fibrosis, which affect fewer than 1 in 2,000 people. These illnesses often stem from genetic glitches, making them perfect testing grounds for cutting-edge science. Marc Dunoyer, AstraZeneca's chief strategy officer and head of its rare disease division, Alexion, recently praised China for its extraordinary strides in tackling this hidden epidemic. He told China Daily that the nation is rapidly emerging as a powerhouse in global biomedical innovation, blending health equity, pioneering research, and support for children's well-being.
'Rare diseases perfectly align with China's core goals,' Dunoyer explained. 'When we aim for health for everyone, that must include people battling these tough conditions.' Over recent years, China has built a robust framework for rare diseases, covering everything from government policies and accurate diagnoses to effective treatments and insurance support. This effort mirrors the ambitious Healthy China 2030 plan, which seeks to make healthcare fairer, more accessible, and driven by innovation.
The 2025 China Conference on Rare Diseases in Beijing showcased these achievements with fresh insights. The national list of rare diseases now includes 207 conditions, and almost 100 therapies are reimbursed through the country's medical insurance system. What's more, a network of 419 specialized hospitals facilitates collaborative care, while over 620 institutions participate in a national reporting platform to track cases and share knowledge. In 2024 alone, China's medical insurance fund set aside 8.6 billion yuan—roughly $1.2 billion—to cover rare disease medications, representing about 7.7 percent of the total spent on pharmaceuticals that year.
Dunoyer emphasized how this expanded access does more than just help patients; it shields families from financial ruin caused by soaring medical bills and fuels progress in fields like gene therapy and cell-based treatments. For beginners wondering what this means, think of gene therapy as editing the body's DNA to fix mutations at their source, or cell therapy as reprogramming cells to combat disease—imagine curing sickle cell anemia by tweaking the patient's own blood cells. Roughly 70 percent of rare diseases result from single-gene mutations, positioning them as ideal labs for revolutionary technologies such as RNA-based medicines, gene editing, and tailored precision therapies.
'This research is stretching the limits of what's possible,' Dunoyer said. 'Breakthroughs in rare diseases frequently spill over to improve care for the wider population, like how treatments for one genetic disorder might inform therapies for more common ailments.' And this is the part most people miss: rare diseases as a catalyst for broader medical evolution, potentially leading to cures for conditions that affect far larger groups.
But here's where affordability emerges as a tricky dilemma that sparks debate. Despite China's impressive gains, Dunoyer pointed out that cost remains a major barrier. Drawing from worldwide data, he noted that the economic burden on a family dealing with a rare disease can exceed six times that of managing a chronic illness like diabetes or hypertension. 'Patients simply can't bear these expenses solo,' he stressed. Is it fair for life-saving drugs to cost families their homes or futures? Some argue that pharmaceutical companies profit excessively from these innovations, while others contend that high prices fund the risky research needed. Dunoyer believes China is poised to innovate its own fixes, such as creative funding models and sustainable payment systems that balance patient access with incentives for inventors.
AstraZeneca has been a trailblazer in China's healthcare landscape, one of the earliest multinational giants to invest heavily. Through Alexion, they've introduced three pioneering therapies addressing five rare disease categories, with two already included in the national reimbursement list. The company is running over 10 global Phase III clinical trials within China and backs 139 Centers of Excellence across the country, including a pioneering initiative for neurofibromatosis type 1—a genetic disorder causing tumors—in Qingdao, Shandong province. In October, they opened a new global research and development hub in Beijing, a massive $2.5 billion commitment that signals deep faith in China's inventive environment.
'We're partnering with local experts and institutions,' Dunoyer shared. 'Chinese ingenuity is now enriching medicine not just at home, but worldwide.' Yet, with all this momentum, he cautioned that the road ahead is long. Treatments exist for only about 5 to 10 percent of known rare diseases globally, leaving 90 percent without options. Could governments worldwide learn from China's playbook to accelerate solutions? Or does reliance on private companies like AstraZeneca risk prioritizing profits over patients? China's dedication to fairness, innovation, and pediatric care promises profound impacts. 'These efforts will revolutionize lives here and inspire the next wave of worldwide medical discoveries,' Dunoyer concluded.
What do you think? Should multinational firms drive rare disease advancements, or ought governments to prioritize and fund more? Do you agree that China's model could set a global standard, or see potential pitfalls in balancing innovation and cost? Weigh in with your opinions in the comments below—let's discuss!
lijing2009@chinadaily.com.cn
