British case could pave the way for pioneering gene therapy

A surprising discovery by a muscular dystrophy researcher almost 30 years ago could yet offer the key to developing new treatments for Duchenne muscular dystrophy.

Kay Davies, a British researcher, had come across the case of a 61-year-old who was missing a sizeable section of the dystrophin gene.

Ordinarily the assumption would be that someone with this mutation would not have lived much beyond a couple of decades.

In fact, even as he approached pensionable age, the man was able to walk with the aid of a stick, defying experts’ understanding of the condition.

27 years later, that case could be the best hope for developing a means to slow or even halt the progression of the muscle-wasting condition.

Using mini genes inspired by the man’s genetic defect, a United States-based team are developing a new form of gene therapy.

Their eventual aim is to drastically improve the prognosis of muscular dystrophy sufferers, who are often confined to a wheelchair by the time they are teenagers.

Scott Harper, an associate professor of paediatrics at Ohio State University, who works alongside the Columbus gene-therapy centre, said: “You can imagine a dramatic effect. We could extend the life of [these] kids by years or decades.”

Louise Rodino-Klapac, who is a principal investigator of the study and also a paediatrics professor at the university, said the research could yield hugely promising results, but it was not without difficulties.

“The risks include whether patients already have too much damage [and] whether the synthetic gene causes an immune reaction in some patients, causing the body to eliminate it,” she said.

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