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Scientists score in fight against fatal disease

Biologists at Bern University have made promising inroads toward treating spinal muscular atrophy, one of the leading genetic causes of early childhood death.

One out of 6,000 newborns is affected by the disease, which attacks nerve cells in the spinal cord responsible for voluntary movement.

Children suffering from the disease have two missing or malfunctioning genes that are needed for the production of a critical protein for healthy muscles.

Cellular biologist Daniel Schümperli and his team have found ways to correct the problem by injecting cells with a specially developed gene, which helps synthesise the missing proteins.

The scientists were able to see significant improvements in mice with even the most severe cases of spinal muscular atrophy.

"This new study shows for the first time that the methods lead to a notable reduction in disease symptoms," Schümperli said in a press release on Friday.

The results have been published in the journal Human Molecular Genetics.


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