Rare diseases impact millions globally, yet diagnosing and treating these conditions remains a significant challenge.

China has made groundbreaking advancements in this area, reducing the average diagnosis time for rare diseases from four years to less than four weeks, Zhang Shuyang, the president of Peking Union Medical College Hospital, told Xinhua at the 2024 China Conference on Rare Diseases held in October. Additionally, medical expenses have dropped by 90 percent, while public awareness of rare diseases has surged from 31 percent to 69 percent, she said.

Many rare diseases, often caused by congenital genetic factors, are closely linked to birth defects. 

There are over 8,000 known birth defects, many of which are classified as rare diseases, Yu Yanhong, an official from the National Health Commission of China, told Xinhua at the same conference. China has seen a decrease of more than 50 percent in infant mortality rate and under-five mortality rate caused by birth defects in 2023 compared to a decade ago, with significant reductions in major conditions like neural tube defects and Down Syndrome, Yu said.

Dr Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, spoke to CGTN about China's response to rare diseases.

"China has made so much progress in genetics and genomics," says Wong-Rieger. "There are more gene therapy clinical trials in China than anywhere else in the world."

For patients, early diagnosis is crucial. Wong-Rieger explained that timely treatment can help intervene before irreversible symptoms appear. However, the challenges posed by rare diseases extend beyond medical care as these conditions often impact entire families emotionally, socially and financially.

Experts are also discovering a growing number of rare diseases impacting older adults. This is more challenging because the disease can sometimes get dismissed as part of the aging process, making diagnosis more difficult.