Rett syndrome is a debilitating neurological disorder occurring primarily in girls. While some existing therapies might ease particular symptoms of the condition, there is no current way to address the syndrome at a molecular level. Now, researchers at Whitehead Institute for Biomedical Research, in collaboration with scientists at Brandeis University, have dramatically reduced certain manifestations of Rett Syndrome in mice, marking a clear path in which to explore possible therapies for people.
"This is the first time weve successfully reduced the awful symptoms of Rett syndrome using transgenic techniques," says Whitehead Member Rudolf Jaenisch, senior author of the paper that will be published February 2 in the journal Neuron. "Once we understand the molecular mechanisms of the disease we may be able to design rational strategies that may eventually be useful for the improving the condition in people."
Rett syndrome, whose incidence is roughly 1 in 15,000, is caused by a defective gene on the X chromosome. Most boys with Rett syndrome die before birth. Girls with Rett develop normally until about six to eighteen months, when things begin to go terribly wrong. Their health deteriorates, and they begin to show symptoms such as loss of speech, loss of voluntary motor control, constant hand wringing and seizures.
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