罕见疾病及孤儿药物研究现状及进展

摘要

文中简述了罕见疾病的定义、发病原因、分类,总结了国内外罕见疾病研究和孤儿药物研发的现状,分析了生物技术的研究手段在罕见疾病药物研发方面的应用,进一步阐述了罕见疾病研究和孤儿药物开发的必要性和紧迫性,对推动科学技术的进步和人类健康事业的发展具有深远的意义.%Interest in rare diseases research and orphan drugs development has been increased distinctly in recent years.The number of affected people with rare diseases is considerable around the world and the formulation of national and international incentive policies to accelerate orphan drugs development, aiming at offering facilities and necessary conditions for patient access to treatment, gains favorable results.In particular, more measures should be taken to catalyze further progress due to behindhand level in this field in China.Additionally, therapeutic methods of rare diseases were also discussed.