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Birth defects, treated during pregnancy

Birth defects, treated during pregnancy

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Scientists have figured out how to prevent certain craniofacial disorders and their method could lead to the treatment of babies as long as they are in the womb, according to Medical News Today.
Researchers at the University of Manchester have successfully treated mice with Treacher Collins Syndrome - a rare genetic disease characterized by underdeveloped facial bones, absent or deformed ears and occasionally a cleft palate.
The team had previously found that the disease affecting one in 10,000 individuals was caused by a mutation of a single gene called TCOF1. They later found that this mutation causes premature death of neuronal cells in early stages of pregnancy resulting in facial abnormalities.
The researchers noted that preventing cell death allowed mice with Treacher Collins syndrome to develop normally. The principle, say the authors, could be applied to other birth defects that cause the mutation of a single gene.
This is the first time a congenital defect has been successfully treated and offers high hopes for treating this disease in humans. The method used by researchers to prevent cell death has significant side effects and there are other ways to prevent cell death and the study authors hope to find other safer methods of treatment.
Anomalies caused by Treacher Collins syndrome, including the bones of the jaws and underdeveloped cheeks, occur in the first weeks of pregnancy.
Since tests to identify this condition in girls can be performed at 9 weeks, long after the disease has done so much harm, any treatment should target those children who are most likely to have such a condition.
Treacher Collins is a hereditary disease and the researchers hope that the new treatment methods will prevent the transmission of the disease from parents to children.
Alina Sica
March 10, 2008


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