Project Details
Description
2023 Partnership Projects PRC1
Retinal dystrophies are a group of diseases, leading to incurable blindness, that can be attributed to variations in more than 200 genes. They have a major impact on public health, with significant lifetime costs as well as lost productivity and quality of life for patients and carers.
Interventions to reduce the impact of genetic blindness, such as gene therapy, are rapidly emerging, with gene therapy for retinal disease recently approved by the FDA and NHS , and early interventions may stop the progression of the disease, saving vision of a patient who otherwise becomes blind. These may have a profound effect on families where a patient suffers a severe vision impairment, with gene therapy having the potential to ameliorate social and economic consequences. Gene therapy has brought a ‘renewed sense of hope exists, after decades of no effective treatments, gene therapy may help us turn the corner and usher in a new era of treatments for Inherited Retinal Dystrophies
Retinal dystrophies are a group of diseases, leading to incurable blindness, that can be attributed to variations in more than 200 genes. They have a major impact on public health, with significant lifetime costs as well as lost productivity and quality of life for patients and carers.
Interventions to reduce the impact of genetic blindness, such as gene therapy, are rapidly emerging, with gene therapy for retinal disease recently approved by the FDA and NHS , and early interventions may stop the progression of the disease, saving vision of a patient who otherwise becomes blind. These may have a profound effect on families where a patient suffers a severe vision impairment, with gene therapy having the potential to ameliorate social and economic consequences. Gene therapy has brought a ‘renewed sense of hope exists, after decades of no effective treatments, gene therapy may help us turn the corner and usher in a new era of treatments for Inherited Retinal Dystrophies
| Short title | Genetic Blindness |
|---|---|
| Acronym | NHMRC Partnership |
| Status | Active |
| Effective start/end date | 1/05/24 → 31/05/30 |
Research output
- 1 Review article
-
The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR
Schofield, D., Kraindler, J., Shrestha, R. N., Tan, O., West, S., Hart, N., Wall, L., Tan, L., Hewett, D., Villaret, L., Ma, A., Grigg, J. R. & Jamieson, R. V., 21 May 2026, (E-pub ahead of print) In: Eye. 6 p.Research output: Contribution to journal › Review article › peer-review
Open Access