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Gene therapy shows promise in tackling common cause of childhood blindness

Gene therapy shows promise in tackling common cause of childhood blindness

The results of a first-in-human clinical trial of gene therapy to treat a common cause of genetic blindness have shown partial reversal of sight loss in some patients.

X-linked retinitis pigmentosa, caused by mutations in RPGR gene, is the most common cause of blindness in young people. The inherited mutations lead to degeneration of light sensitive cells (photoreceptors) beginning in early childhood leading to severe sight loss.

Until now there has been no treatment for this disease. Gene therapy using viral vectors to deliver a healthy copy of a mutated gene into affected cells aims to slow down the degeneration and preserve visual function.

However, the RPGR gene has an unusual genetic code which makes it unstable to work with in the laboratory and until now difficult to translate into human trials.

Scientists at the University of Oxford reprogrammed the genetic code of the RPGR gene to make it more stable, providing the basis for this first-in-human retinal gene therapy.

Read more on the NIHR Oxford Biomedical Research Centre website