HAIKOU, May 25 -- The 2025 International Conference on Rare Diseases opened in Haikou, the capital of Hainan province, showcasing advancements and fostering dialogue among global experts.

With over 300 million individuals affected by rare diseases globally, the gathering seeks to address the challenges in diagnosis and treatment faced by patients, including a significant number in China which reports more than 20 million affected individuals.

The conference featured art by Liu Xinruo, a young Chinese girl living with pseudoachondroplasia, symbolizing resilience amid health challenges faced by many.

Experts from various domains, including clinicians, researchers, pharmaceutical representatives, policymakers, and patient advocates, convened to share insights and strategies for improving care.

Globally, over 7,000 rare diseases have been identified, with treatment approved for only approximately 5 percent.

In response, Ma Xudong from China's National Health Commission emphasized an innovative and comprehensive strategy to enhance the healthcare framework for rare diseases.

This strategy encompasses the establishment of a national list of rare diseases, expanded insurance coverage, clinical guideline improvements, and accelerated drug development efforts.

China's healthcare initiatives include the development of a collaborative hospital network that spans all provincial-level regions, now consisting of 419 hospitals.

This network has significantly reduced the average diagnostic waiting period for rare diseases from four years to less than four weeks, while also decreasing costs related to diagnosis by up to 90 percent.

Furthermore, the official list of recognized rare diseases in China has expanded to encompass 207 conditions, with over 90 rare disease medications included in the national medical insurance framework.

Technological advancements are crucial to these developments.

The China Alliance for Rare Diseases (CARD) has implemented a digital health platform designed for intelligent applications that aid in diagnosis, patient management, clinical research, education, and drug development.

Additionally, Peking Union Medical College Hospital (PUMCH), in collaboration with the Chinese Academy of Sciences, has launched PUMCH-GENESIS, a large language AI model that utilizes extensive datasets related to rare diseases to enhance diagnosis accuracy and efficiency.

In terms of policy, Hainan's Boao Lecheng International Medical Tourism Pilot Zone has introduced a unique regulatory approach, permitting the introduction of 45 internationally approved rare disease drugs that are not yet authorized elsewhere in China.

Meanwhile, funding initiatives from the National Natural Science Foundation of China and the Ministry of Science and Technology aim to bolster research in complex and rare diseases and establish a national key laboratory.

Support systems for patients have also been evolving, with organizations such as the Beijing Illness Challenge Foundation and CARD facilitating networks that connect patients, experts, and decision-makers.

This collaboration aims to provide emotional and social support, reducing feelings of isolation among those affected by rare diseases.

In a video address to the conference, the World Health Organization's Representative to China commended the nation’s inclusive approach to creating its national rare disease list and underscored the necessity of global cooperation to develop sustainable care models that cater to both medical and psychological needs of patients.

The call for resource sharing and collaborative scientific progress was emphasized by representatives from the International Rare Diseases Research Consortium as vital in the ongoing effort to combat rare diseases.

Experts highlighted that supporting patients with rare diseases requires ongoing commitment, underscoring the continuous nature of care and collaborative efforts across borders.