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Rare mutations linked to severe scoliosis

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Rare mutations in two genes can drastically elevate children’s chances of developing severe scoliosis, according to a press release.

Children with these mutations are four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists from the Washington University School of Medicine in St. Louis have found.

“We’ve had a difficult time finding ways to predict who will develop severe scoliosis, and these newly identified mutations have the potential to be very helpful,” senior study author Christina A. Gurnett, MD, PhD, said in the press release.

There are drugs currently in clinical trials that block a major growth pathway controlled by the mutated genes, fibrillin-1 and fibrillin-2. If the same pathway is involved in scoliosis, doctors may be able to use these drugs to prevent scoliosis in certain children with these mutations, according to the press release.

“We want to create a genetic testing panel that we can use to more accurately predict who will need treatment,” co-author, Matthew Dobbs, MD, said in the press release. “If we can develop effective treatments and apply them early enough, we might one day be able to prevent the need for surgeries.”