Gene hope for spina bifida

A NEWLY identified birth defect gene may help scientists tackle spina bifida, it was claimed yesterday.

The gene TMEM216 plays a role in two serious but rare disorders, Meckel -Gruber and Joubert syndromes.

Both cause brain and eye defects, as well as abnormal numbers of fingers and toes.

Researchers believe understanding how the gene functions may lead to new treatments for more common birth conditions such as spina bifida and polycystic kidney disease.

A mutation in TMEM216 was found to interfere with the way developing cells in the womb signal each other. The lack of communication can prevent the neural tube developing properly.

Scientists identified the gene after analysing DNA donated by families with a history of the disorders.

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