Mercer Gareth D, Ballios Brian G, Kertes Peter J
Department of Ophthalmology & Vision Sciences, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Adv Exp Med Biol. 2025;1467:337-341. doi: 10.1007/978-3-031-72230-1_60.
The next frontier in genetic therapy for IRDs is the correction or silencing of specific mutations. This is of relevance to conditions with dominant negative and gain-of-function disease mechanisms, or with causative genes that are too large for gene replacement using AAV vectors. We discuss two approaches that have reached the stage of human clinical trials: CRISPR-Cas9 based gene editing and post-transcriptional gene silencing using antisense oligonucleotides. Other mutation-specific treatment approaches in pre-clinical development include adenosine deaminases acting on RNA (ADAR)-based RNA editing, RNA interference, and translational read through inducing drugs (TRADs). These have been reviewed elsewhere (e.g., Martinez Velazquez and Ballios 2021).
IRD基因治疗的下一个前沿领域是特定突变的校正或沉默。这与具有显性负性和功能获得性疾病机制的病症相关,或者与致病基因过大而无法使用AAV载体进行基因替代的病症相关。我们讨论了两种已进入人体临床试验阶段的方法:基于CRISPR-Cas9的基因编辑和使用反义寡核苷酸的转录后基因沉默。临床前开发中的其他针对特定突变的治疗方法包括基于作用于RNA的腺苷脱氨酶(ADAR)的RNA编辑、RNA干扰和诱导翻译通读的药物(TRAD)。这些内容在其他地方已有综述(例如,Martinez Velazquez和Ballios,2021年)。