Down’s Syndrome Cells ‘Fixed’ in First Step Towards Chromosome Therapy

Ian Sample
The Guardian
July 17, 2013

Downs_Syndrome_Chromasomes

Scientists have corrected the genetic fault that causes Down’s syndrome – albeit in isolated cells – raising the prospect of a radical therapy for the disorder.

In an elegant series of experiments, US researchers took cells from people with DS and silenced the extra chromosome that causes the condition. A treatment based on the work remains a distant hope, but scientists in the field said the feat was the first major step towards a “chromosome therapy” for Down’s syndrome.

“This is a real technical breakthrough. It opens up whole new avenues of research,” said Elizabeth Fisher, professor of neurogenetics at UCL, who was not involved in the study. “This is really the first sniff we’ve had of anything to do with gene therapy for Down’s syndrome.”

Around 750 babies are born with DS in Britain each year while globally between one in a 1000 and one in 1100 births are DS babies. Most experience learning difficulties.

Despite advances in medical care that allow most to live well into middle age, those who have the disorder are at risk of heart defects, bowel and blood disorders, and thyroid problems.

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