罕见疾病研究现状及展望

Current Status and Prospect of the Research on Rare Diseases

通过对罕见病病谱及分布的调查,美国、日本等发达国家根据本国的情况给出了不同的界定标准,并已通过立法促进罕见病防治。近几年来,随着分子生物学技术的快速发展,遗传性罕见疾病的研究也进入快车道,其研究成果不仅在罕见疾病的临床诊断、药物开发、治疗中发挥了重要作用,而且还是研究复杂疾病或正常生命活动分子机制的捷径。我国对罕见疾病防治尚未立法,其研究的规模和深度与先进国家有相当的差距,但已引起各阶层的关注。本文提出我国罕见病面临的首要任务:(1)呼吁政府尽快立法(2)开展RD全国病谱及分布调查,摸清我国RD的发病情况及规律(3)在国家层面上大力开展RD学术研究。

In some developed countries,according to investigation on their own national spectrum and distribution of rare diseases,rare diseases had been defined differently and legislation had been established to improve rare diseases prevention and treatment.In recent years,great progress in gene sequencing has contributed to worldwide research of genetic rare diseases.The research results not only played an important role in diagnosis,drug development and treatment of rare diseases,but also provided shortcut in molecular mechanism research of complex diseases and normal activities.China has no legislation for rare diseases,lagging far behind the USA,the European Union,Australia,Singapore,Japan,South Korea,and Taiwan,but wide public concerns have been caused.In this article,the primary tasks faced by China have been proposed：（1）to call on the government to legislate as soon as possible;（2） to carry out national investigation on RD spectrum and distribution to find out the prevalence and regularity of RD;（3）to promote academic research on RD at the national level.