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Related Concept Videos

Gene Therapy00:59

Gene Therapy

25.1K
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...
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iPS Cell Differentiation01:22

iPS Cell Differentiation

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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Related Experiment Video

Updated: May 29, 2025

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

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Gene therapy for choroideremia: progress, potential and pitfalls.

Maram E A Abdalla Elsayed1,2, Jasmina Cehajic-Kepetanovic1,2, Robert E MacLaren1,2

  • 1Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.

Expert Opinion on Biological Therapy
|February 2, 2025
PubMed
Summary

Gene therapy for choroideremia shows promise, with ongoing trials focusing on optimizing treatments. Lessons learned can advance gene therapy for complex polygenic retinal disorders.

Keywords:
AAVCHMCRISPRGene therapyREP1choroideremiaclinical trialsretina

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Choroideremia is a rare, high-burden retinal disease.
  • Gene-supplementation therapy represents a successful gene therapy approach for choroideremia.

Purpose of the Study:

  • To review current gene therapy trial progress for choroideremia.
  • To identify potential benefits and challenges of these trials.
  • To propose a novel clinical endpoint for regulatory approval and recommend surgical technique optimization.

Main Methods:

  • Review of current gene therapy trials for choroideremia.
  • Analysis of clinical trial data, focusing on vector design, delivery, patient selection, and safety.
  • Proposal of a novel clinical endpoint and surgical technique recommendations.

Main Results:

  • Gene therapy for choroideremia has shown success.
  • Phase 3 trial insights offer guidance for future treatments.
  • Optimization of vector design, delivery, patient selection, and safety is crucial.

Conclusions:

  • Gene therapy holds significant potential for treating choroideremia.
  • Learnings from choroideremia trials can inform the development of therapies for polygenic retinal disorders.
  • Further optimization of surgical techniques and clinical endpoints is recommended for regulatory success.