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遗传病尤其是单基因遗传病是儿童致畸致残的主要原因之一,给家庭、社会带来沉重的经济、心理负担。目前绝大多数遗传病临床治疗以对症治疗为主,尚缺乏有效的治疗方法。随着生命与医学科学的发展,近年来以靶向致病分子或其相关信号通路、靶分子的外源物质补充、转基因、RNA干扰、基因组编辑等生物学技术为代表的生物学治疗措施开始应用于遗传病的治疗,并取得了一定的疗效。但目前大多数遗传病的生物学治疗仍局限于动物实验研究,今后在继续研发基于致病机制的新治疗策略的同时,将关注如何开展临床试验,为最终安全、有效应用于临床患者奠定基础。
Genetic diseases, especially single-gene inherited diseases, are one of the major causes of teratogenic and disabling children, posing a heavy economic and psychological burden to families and society. At present, the vast majority of clinical treatment of hereditary diseases mainly symptomatic treatment, there is a lack of effective treatment. With the development of life and medical science, in recent years, biological therapeutic measures such as targeting of pathogenic molecules or their related signaling pathways, exogenous substance replenishment of target molecules, transgenic technologies, RNA interference, genome editing and other biological technologies have begun Applied to the treatment of genetic diseases, and achieved a certain effect. However, at present, most biological diseases of genetic diseases are still limited to animal experimental studies. In the future, while continuing to develop new therapeutic strategies based on pathogenic mechanisms, they will focus on how to conduct clinical trials and lay the foundation for the ultimate safe and effective application to clinical patients .