遗传性耳聋的生物学机制和治疗

Biological mechanisms and therapies of hereditary deafness

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 mutation is a major cause of human diseases. The underlying biological mechanisms are recognized as the mutagenesis at genomic level directly disrupts specific biological pathway within the context of certain organ or tissue function. In this review, using hereditary hearing impairment as a model, we introduce current exciting advances in basic research and the biological therapies for potential clinical translation.