Rare diseases are mostly caused by congenital genetic factors and are closely related to birth defects. Currently, there are more than 8000 known birth defects, of which a considerable number are rare diseases. "On July 20-21, the 2024 Rare Disease Cooperation and Exchange Conference was held in Beijing. Shen Haiping, Deputy Director of the Maternal and Child Health Department of the National Health Commission, stated in her speech that doing a good job in the prevention and treatment of birth defects is of great significance for strengthening the diagnosis and treatment of rare diseases. Shen Haiping introduced that compared with 5 years ago, the infant mortality rate and under-5 mortality rate caused by birth defects in China have both decreased by more than 30%. The incidence of severe disability birth defects such as neural tube defects and Down syndrome decreased by 23%. According to the definition in the Research Report on the Definition of Rare Diseases in China 2021, diseases with a neonatal incidence rate of less than 1/10000, a prevalence rate of less than 1/10000, and a number of patients less than 140000 are classified as rare diseases. In fact, rare diseases are not uncommon, with approximately 300 million patients worldwide and nearly 20 million patients in China. Wang Yiou, the initiator of the Beijing Pain Challenge Public Welfare Foundation, said that rare disease patients mainly face two major challenges: "no medicine to treat" and "difficult to afford with medicine". How to solve related problems? Li Linkang, Vice Chairman and Office Director of the Expert Committee on Rare Disease Diagnosis, Treatment and Support of the National Health Commission, and Deputy Director of the Office of the National Rare Disease Diagnosis and Treatment Cooperation Network, stated that studying this "niche" group requires more efforts and energy from clinical doctors, scientists, and others to support the output of more rare disease diagnosis and treatment methods, continuously improve the rare disease diagnosis and treatment cooperation network, and enhance the ability to identify and diagnose rare diseases. Sun Jie, Vice Dean of the School of Insurance at the University of International Business and Economics, pointed out that the accessibility of medication for rare diseases requires cooperation from multiple parties and departments. In addition, commercial health insurance needs to optimize its ecological environment in order to better cooperate with medical insurance, effectively connect and solve the problem of difficult medication for rare disease patients on the "last mile". Yang Yue, a researcher at the School of Pharmacy, Tsinghua University and director of the Key Laboratory of Innovative Drug Research and Evaluation of the National Medical Products Administration, believes that on the one hand, the government needs to formulate relevant policies to give enterprises good expectations; On the other hand, government investment will become a lever, triggering a large amount of investment and industry input, thus forming a virtuous cycle. (New Society)