Precision Therapy for Inherited Retinal Disease At the Forefront of Genomic Medicine

被引：5

作者：

Koulisis, Nicole ^{[1
,2
,3
]}

Nagiel, Aaron ^{[1
,2
,3
]}

机构：

[1] Childrens Hosp Los Angeles, Dept Surg, Vis Ctr, Los Angeles, CA 90027 USA

[2] Childrens Hosp Los Angeles, Saban Res Inst, Los Angeles, CA 90027 USA

[3] Univ Southern Calif, Keck Sch Med, USC Roski Eye Inst, 1450 San Pablo St, Los Angeles, CA 90033 USA

来源：

CLINICS IN LABORATORY MEDICINE | 2020年 / 40卷 / 02期

关键词：

Adeno-associated virus (AAV); Clustered regularly interspaced short palindromic repeats (CRISPR); Gene transfer; Inherited retinal disease; Next-generation sequencing (NGS); Retinal degeneration; Sanger sequencing; Subretinal gene therapy; MEDIATED GENE-THERAPY; RETINITIS-PIGMENTOSA; MUTATIONS; DEGENERATION; VISION; VECTOR; MOUSE; PREVALENCE; EXPRESSION; EFFICACY;

D O I：

10.1016/j.cll.2020.02.007

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Inherited retinal diseases (IRDs) represent a diverse array of conditions characterized by dysfunction or loss of 1 or more retinal cell types. Next-generation sequencing has enabled rapid and relatively inexpensive genotyping, with more than 250 genes identified as responsible for IRDs. This expansion in molecular diagnostic accuracy, in combination with the retina's relative accessibility and immune privilege, has fostered the development of precision therapies to treat these myriad conditions. Novel techniques are being used in early trials. Precision molecular therapies for IRDs hold great promise as diagnostic and treatment strategies continue to expand.

引用

页码：189 / +

页数：17

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