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遗传突变是人类疾病的主要原因,其生物学机制是在基因层面的一些突变直接导致了特定组织器官的特定生物学过程的障碍。现以遗传性耳聋疾病为范式,介绍近年来该领域内的基础研究方面的重要进展,以及在临床转化方向的探索。
Genetic mutations are the main cause of human disease and their biological mechanism is that some mutations at the gene level lead directly to the obstacles of a particular biological process in a particular tissue or organ. The genetic deafness disease is now the paradigm, introducing the important advances in basic research in this area in recent years and the exploration in the direction of clinical transformation.