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Prospects for gene therapy.

Robin R Ali1

  • 1Molecular Genetics, Institute of Ophthalmology, University College London, Bath St, London EC1V 9EL, UK.

Novartis Foundation Symposium
|January 31, 2004
PubMed
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Gene therapy using adeno-associated viral (AAV) vectors shows promise for inherited retinal diseases like retinitis pigmentosa. This approach successfully restored vision in animal models by correcting gene defects in photoreceptor and retinal pigment epithelium cells.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Inherited retinal diseases, including retinitis pigmentosa (RP), affect approximately 1 in 3000 individuals in Western countries.
  • These conditions cause progressive vision loss due to mutations in specific genes, with no current effective treatments.
  • Identification of disease-related genes and their functions offers a basis for developing gene-based therapies.

Purpose of the Study:

  • To evaluate the efficacy of adeno-associated viral (AAV) vector-mediated gene therapy for inherited retinal degeneration.
  • To assess the restoration of photoreceptor and retinal pigment epithelium (RPE) cell function in animal models of RP.

Main Methods:

  • Utilized the retinal degeneration slow (rds) mouse model, deficient in peripherin 2, for AAV-mediated gene transfer.

Related Experiment Videos

  • Employed the Royal College of Surgeons (RCS) rat model, with a Mertk gene defect, for AAV-mediated gene therapy targeting RPE cells.
  • Assessed improvements in photoreceptor structure, function, and central visual neuronal responses.

    • Main Results:

    • AAV-mediated transfer of peripherin 2 restored photoreceptor ultrastructure and function in rds mice.
    • In RCS rats, AAV-mediated delivery of Mertk to RPE cells reduced debris and delayed photoreceptor degeneration by 3-4 months.
    • Demonstrated improvement in central visual function through enhanced neuronal responses.

    Conclusions:

    • AAV vectors are effective tools for gene transfer to photoreceptor and RPE cells.
    • AAV-mediated gene therapy shows significant potential for treating inherited retinal degeneration.
    • These findings support the use of AAV vectors as a therapeutic strategy for various inherited retinal diseases.