The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

中文翻译：

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应对罕见遗传病的诊断和治疗挑战

在过去的5年中，导致罕见病的基因发现率空前，与此同时，可诊断但仍无法治愈的疾病数量也相应增加。在这里，我们讨论了越来越多的罕见疾病诊断和治疗机会以及如何应对相关挑战。