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Gene therapy for progressive blindness with positive results


The first gene therapy for choroideremia, an inherited disease of the retina that leads to progressive blindness, has produced surprising and very positive results in the patients involved: several patients showed real improvements in their vision in twilight conditions, and two of these patients were able to read more lines on the optometric chart. The results of this study, published in the Lancet journal, are based on research work by Miguel Seabra and his research team, who have been studying the genetic basis of choroideremia for twenty years.

Surgeons at Oxford Eye Hospital (UK) injected the choroideremia gene directly into patients' light-sensing cells, using a harmless virus to introduce the gene into the cells. Miguel Seabra's team identified the gene and studied its function in mice that develop the disease. It was also his team that developed the virus used in the clinical trial.

Although this is the first of several phases that need to be completed before treatment becomes available to patients, the positive results suggest that the approach could be applied to other causes of blindness, more common than choroideremia, such as retinitis pigmentosa and age-related macular degeneration.

The clinical trial is funded by the Wellcome Trust and the UK Ministry of Health, with support from the Biomedical Research Centre and Fight for Sight, whose contribution Miguel Seabra highlights as a remarkable example of the active involvement of patients in supporting scientific research.