Mutation-independent gene knock-in therapy targeting 5′UTR for autosomal dominant retinitis pigmentosa  

作　　者：Duc Anh Hoang Baoshan Liao Zongli Zheng Wenjun Xiong 

机构地区：[1]Department of Biomedical Sciences,City University of Hong Kong,Hong Kong,China [2]Key Laboratory of Biochip Technology,Biotech and Health Centre,Shenzhen Research Institute of City University of Hong Kong,Shenzhen,China [3]TUNG Biomedical Sciences Centre,City University of Hong Kong,Hong Kong,China [4]Ming Wai Lau Centre for Reparative Medicine,Karolinska Institutet,Hong Kong,China These authors contributed equally:Duc Anh Hoang,Baoshan Liao

出　　处：《Signal Transduction and Targeted Therapy》2023年第4期1361-1363,共3页信号转导与靶向治疗（英文）

基　　金：(Shanghai Institute of Nutrition and Health,Chinese Academy of Sciences)for their help and reagents on in vitro CRISPR/CAS9 screening.This research was funded by Research Grants Council Hong Kong Project 11103819,Hong Kong Health and Medical Research Fund Project 06172466,TUNG Biomedical Sciences Foundation,and Ming Wai Lau Center(MWLC)Associate Member Programme to W.X.

摘　　要：Dear Editor,Retinitis pigmentosa(RP)is an inherited photoreceptor degeneration disease with high genetic heterogeneity(>90 disease-causing genes according to RetNet:https://web.sph.uth.edu/RetNet/sumdis.htm).Taking a single RP disease gene RHO as an example,there are more than two hundred loss-of-function and gain-of-function mutations identified.1 While gene supplementation therapy has emerged as the most promising treatment for autosomal recessive RP(arRP)and X-linked RP(ClinicalTrials identifier:NCT01482195,NCT03328130,NCT03116113,NCT03252847,NCT03316560),therapeutic approaches to treat autosomal dominant RP(adRP)fall behind due to the low efficiency to disrupt mutant alleles specifically and a broad spectrum of the gain-of-function mutations.

关 键 词：autosomal DEGENERATION IDENTIFIER 

分 类 号：R774.1[医药卫生—眼科]