Discovery provides hope for sufferers of disfiguring bone disease

Craniosynostosis develops in the womb and affects one in every 2500 live births. Bones in the skulls and face of sufferers fuse together prematurely causing a range of distressing developmental problems. Some of the affected children also suffer from defects in the limbs, brain, kidneys and lungs. Depending on the severity of their disease and its underlying cause, children suffering with craniosynostosis survive from as little as a few days to as long as early adulthood.

Led by Dr Mohammad Hajihosseini, the UEA scientists focused on Apert Syndrome – the most severe of the craniosynostosis range of diseases that is caused by mutations in a gene called Fibroblast Growth Factor Receptor 2 (FGFR2). They identified a key offending molecule – FGF10 and demonstrated for the first time that ‘dampening down’ the levels of this offending molecule can reverse the effects of the disease.

Published in the journal ‘Developmental Dynamics’, the findings are the culmination of five years work and vastly increase our understanding of this tragic childhood disease.

“The next step is to research how best to translate this discovery into an effective treatment,” said Dr Hajihosseini. “Given the appropriate funding, in the not too distant future a gel or similar vehicle could be developed that can be surgically applied to the fusing joints of the skull – thus reversing the effects of the disease.”


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