Three cheers for gene therapy!

Ophthalmology is perhaps not the most glamorous of medical specialisms. While internal medicine and emergency medicine have TV’s House MD or George Clooney’s Doug Ross in ER to represent them, the world’s best known ophthalmologist is Syrian dictator Bashar al-Assad. Nonetheless, ophthalmology has made headlines this week, with a breakthrough in the controversial field of gene therapy.

Researchers at the Nuffield Laboratory of Ophthalmology in Oxford injected a virus into the back of the eyes of patients suffering from choroideremia, a rare genetic condition that causes progressive blindness. The virus carried a copy of the malfunctioning gene, which it transferred to the cells in the patients’ eyes. The treatment was so effective that it didn’t just halt sight loss, but enabled some recovery of vision in some patients. Although much more work is to be done – this first study only involved six patients, with only two patients regaining much sight – the moving statements of the patients who benefited from the trial are testament to the worthwhile nature of the work. One patient remarked on being able to see the stars in the night sky for the first time in years.

This advance is particularly encouraging given the fact that the entire field of gene therapy was thrown into disrepute following the death of 18-year-old clinical trial participant Jesse Gelsinger in 1999. Gelsinger suffered from a rare genetic disease and died after being injected with viral vectors containing corrected genes as part of a medical trial at the University of Pennsylvania. However, while Gelsinger’s death may have cast doubt on the field of gene therapy, it still helped to advance research. In a recent interview with Wired magazine, the researchers involved in that trial reflected that the response to the death of Gelsinger led to the development of better viral vectors.

The perseverance of gene-therapy researchers in the face of adversity is to be applauded. This week’s breakthrough stands in the tradition of the greatest medical breakthroughs of the past, which relied on taking risks and, in turn, suffered many setbacks. Indeed, it is spiriting to see that breakthroughs such as this are still possible, despite the wariness and risk aversion that dogs medical research today. As the Wired article notes, pressing on with the research is the best memorial that society could make to Gelsinger’s sacrifice. So three cheers for the researchers in Oxford; let’s look forward to the next breakthrough.

Robin Walsh is a trainee doctor at the University of Sheffield.