Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

pH-stable polymersome as nanocarrier for post-loaded rose bengal in photodynamic therapy.

Colloids and surfaces. B, Biointerfaces·2022

Same author

A case of ANCA-associated vasculitis presenting de novo in pregnancy, successfully treated with rituximab.

Obstetric medicine·2020

Same author

Detection of early anastomotic leakage by intraperitoneal microdialysis after low anterior resection for rectal cancer: a prospective cohort study.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland·2019

Same author

Dehydropolymerisation of methylamine borane using a dinuclear 1,3-allenediyl bridged zirconocene complex.

Dalton transactions (Cambridge, England : 2003)·2018

Same author

miRNA-mediated post-transcriptional silencing of transgenes leads to increased adeno-associated viral vector yield and targeting specificity.

Gene therapy·2017

Same author

Gene therapy approaches for prevention of retinal degeneration in Usher syndrome.

Gene therapy·2017

Search research articles

Related Experiment Video

Updated: May 14, 2026

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Published on: August 7, 2015

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus.

V S Lopes¹, S E Boye, C M Louie

¹Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095, USA.

|January 25, 2013

Summary

Gene therapy using adeno-associated virus (AAV) vectors shows promise for Usher 1B patients. Single AAV vectors effectively delivered the MYO7A gene, restoring protein function and correcting retinal degeneration phenotypes in mice.

More Related Videos

Subconjunctival Administration of Adeno-associated Virus Vectors in Small Animal Models

Subconjunctival Administration of Adeno-associated Virus Vectors in Small Animal Models

Published on: March 16, 2022

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

Related Experiment Videos

Last Updated: May 14, 2026

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Published on: August 7, 2015

Subconjunctival Administration of Adeno-associated Virus Vectors in Small Animal Models

Subconjunctival Administration of Adeno-associated Virus Vectors in Small Animal Models

Published on: March 16, 2022

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Usher syndrome type 1 (USH1) causes profound deafness at birth and progressive retinal degeneration.
Early identification of USH1 patients allows for potential intervention before vision loss.
Gene therapy presents a viable strategy to prevent blindness in USH1.

Purpose of the Study:

To investigate adeno-associated virus (AAV) vector-mediated delivery of the MYO7A gene for Usher 1B.
To evaluate the efficacy of single and dual AAV vector systems in retinal cells and a mouse model.

Main Methods:

Cloning of MYO7A cDNA under a smCBA promoter into single AAV2/AAV5 vectors and dual AAV2 vectors.
Transduction of retinal cells in culture and Myo7a-null mice.
Assessment of MYO7A protein expression and correction of mutant phenotypes.

Main Results:

Single AAV2 and AAV5 vectors successfully transduced retinal cells, leading to functional MYO7A protein expression and phenotype correction.
Dual AAV2 vectors also delivered MYO7A, but with variable protein levels and limited phenotype correction.
Homologous recombination may explain the functional restoration despite potential gene fragmentation in single vectors.

Conclusions:

Single AAV2 and AAV5 vectors are efficacious for MYO7A gene therapy in Usher 1B.
The dual AAV2 vector approach was less effective for delivering functional MYO7A.
AAV-mediated gene therapy holds potential for treating Usher 1B-related blindness.