Posts Tagged ‘mutation’

Scientists are reporting in the current New England Journal of Medicine the surprising finding of genes associated with stuttering. The study, lead by researchers at the National Institutes of Health, identified three gene mutations as sources of stuttering. “This is the first study to pinpoint specific gene mutations as the potential cause of stuttering, a disorder that affects 3 million Americans, and by doing so, might lead to a dramatic expansion in our options for treatment,” said Dr. James Battey, director of the National Institute on Deafness and Other Communication Disorders. Stuttering tends to run in families, but this is the first study to demonstrate a genetic component, which was found in study volunteers from the US, Pakistan, and England. [via StutteringHelp.org]

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A British baby due this week will become the first child to be born with certainty that it does not have the BRCA1 gene mutation. Approximately 5% to 10% of breast cancers are believed to be due to genetic mutations inherited from parents – the most common being the BRCA1 and BRCA2 genes.  Because the British couple conceived through in virto fertilization, they were able to screen for cystic fibrosis, Huntington’s disease, and now BRCA1, at the 6 to 8 cell stage prior to implanting the embryo into the mother’s womb. All the women on the father’s side of the family have developed breast cancer, which is why the couple decided on genetic screening. Women who inherit the BRCA1 gene have up to an 80% increase in risk of developing breast cancer.

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