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CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

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Related Experiment Video

Updated: Jun 27, 2025

CRISPR/Cas9 Editing of the C. elegans rbm-3.2 Gene using the dpy-10 Co-CRISPR Screening Marker and Assembled Ribonucleoprotein Complexes.

CRISPR/Cas9 Editing of the C. elegans rbm-3.2 Gene using the dpy-10 Co-CRISPR Screening Marker and Assembled Ribonucleoprotein Complexes.

Published on: December 11, 2020

Gene Editing for CEP290-Associated Retinal Degeneration.

Eric A Pierce¹, Tomas S Aleman¹, Kanishka T Jayasundera¹

¹From the Ocular Genomics Institute, Department of Ophthalmology, Mass Eye and Ear and Harvard Medical School, Boston (E.A.P., J.I.C.), and Editas Medicine, Cambridge (B.S.A., K.K., A.R., M.C.J., R.L.M.) - both in Massachusetts; the Scheie Eye Institute and the Division of Ophthalmology of the Children's Hospital of Philadelphia, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (T.S.A., A.M.M.); the University of Michigan Kellogg Eye Center, Ann Arbor (K.T.J.); the Bascom Palmer Eye Institute, University of Miami, Miami (B.L.L.); and the Casey Eye Institute, Oregon Health and Science University, Portland (S.T.B., A.K.L., M.E.P.).

The New England Journal of Medicine

|May 6, 2024

Summary

This summary is machine-generated.

Gene editing with EDIT-101 shows promise for treating CEP290-associated inherited retinal degeneration. The study found EDIT-101 to be safe and observed meaningful improvements in vision and quality of life in participants.

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Published on: May 25, 2018

Area of Science:

Ophthalmology
Genetics
Biotechnology

Background:

Inherited retinal degeneration linked to CEP290 pathogenic variants causes severe early-onset vision loss.
A specific variant in intron 26 of CEP290 (IVS26 variant) is a target for gene editing therapies.
EDIT-101 is a CRISPR-Cas9 gene-editing complex designed to correct the IVS26 variant.

Purpose of the Study:

To evaluate the safety and efficacy of a single dose of EDIT-101 in patients with CEP290-associated inherited retinal degeneration.
To assess changes in visual acuity, retinal sensitivity, mobility, and quality of life following EDIT-101 treatment.

Main Methods:

A Phase 1-2, open-label, single-ascending-dose study was conducted.
Participants aged 3 years and older with the IVS26 variant received subretinal injections of EDIT-101.
Safety, best corrected visual acuity, full-field stimulus testing (FST), mobility, and quality of life were assessed.

Main Results:

No serious adverse events or dose-limiting toxic effects were observed.
Significant improvements in best corrected visual acuity were noted in 64% of participants.
Meaningful improvements in vision-related quality of life and photoreceptor function were observed in several participants.

Conclusions:

The safety profile and observed functional improvements support further investigation of EDIT-101.
In vivo CRISPR-Cas9 gene editing is a viable strategy for treating inherited retinal degenerations caused by the CEP290 IVS26 variant.
Further research is warranted to explore the potential of gene editing for other genetic causes of retinal degeneration.