CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration: Influence Statistics

Expert Impact

Concepts for which they have has direct influence: Retinal degeneration , Inherited retinal , Stem cell , Retinal dystrophies , Cell replacement , Gene editing , Animal models .

Key People For Retinal Degeneration

Top KOLs in the world
#1
Matthew M LaVail
retinal degeneration light damage photoreceptor cells
#2
Eliot L Berson
retinitis pigmentosa visual acuity rhodopsin gene
#3
Samuel G Jacobson
retinitis pigmentosa leber congenital amaurosis retinal degeneration
#4
THADDEUS P Dryja
retinitis pigmentosa rhodopsin gene missense mutation
#5
John R Heckenlively
retinitis pigmentosa retinal degeneration visual acuity
#6
José‐Alain Sahel
retinitis pigmentosa retinal degeneration gene therapy

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration

Abstract

. Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the course of the disease, however, many patients carry mutations in genes too large to be packaged into adeno-associated viral vectors and some, when overexpressed via heterologous promoters, induce retinal toxicity. In addition to the aforementioned challenges, some patients have sustained significant photoreceptor cell loss at the time of diagnosis, rendering gene replacement therapy insufficient to treat the disease. These patients will require cell replacement to restore useful vision. Fortunately, the advent of induced pluripotent stem cell and CRISPR-Cas9 gene editing technologies affords researchers and clinicians a powerful means by which to develop strategies to treat patients with inherited retinal dystrophies. In this review we will discuss the current developments in CRISPR-Cas9 gene editing in vivo in animal models and in vitro in patient-derived cells to study and treat inherited retinal degenerative diseases.