国际罕见病日将至 专家：应对罕见病挑战需要多方力量共同托举

Core Viewpoint - The ultimate goal is to help rare disease patients reintegrate into society through collective efforts, highlighting that rare diseases are not just medical issues but also significant social and livelihood concerns [1] Group 1: Rare Disease Treatment and Research - The development of drugs for rare diseases requires a deep understanding of the disease's causes and mechanisms, as effective treatment cannot occur without this foundational research [1] - Enzyme replacement therapy is a primary method for treating Gaucher disease, but it is costly and requires lifelong treatment to prevent severe health consequences [2] - Early and continuous treatment is crucial for saving lives and protecting the health of rare disease patients [2] Group 2: Social Support and Funding Mechanisms - The Shanghai Rare Disease Prevention Foundation has been actively promoting public awareness and legislative research to support rare disease patients [1] - Despite existing support mechanisms, there is a need for a coordinated approach to provide stable funding and support for rare disease patients [3] - Establishing a rare disease special fund is essential for providing systematic support and integrating various existing healthcare resources [3] Group 3: Legislative Developments - The implementation of the Shanghai Medical Security Regulations in March 2025 encourages social participation in the diagnosis, research, and medication security for rare diseases [3] - Legislative research is being conducted to ensure patient-centered protections throughout the entire lifecycle of care, from prevention to treatment [3] - A pragmatic approach of "fund first, legislation later" is proposed to establish a special fund that can inform future legislative efforts [4][5] Group 4: Ecosystem Development - A dual-driven model is suggested to create a favorable ecosystem for rare disease treatment, involving both direct support policies and incentives for private sector participation [5] - The collaboration of government and various stakeholders is seen as essential for addressing the complex issues surrounding rare diseases [5]