Fragile X Syndrome is a genetic disorder in which an individual’s X chromosome is mutated. This mutation causes mental retardation as well as autism and was not treatable– until now.

Mark Bear, the director of the Picower Institute for Learning and Memory at MIT, is the scientist who discovered the mutation that is responsible for Fragile X Syndrome. Apparently, the mutation is responsible for regulating the synapses- connections- between the brain cells. Bear makes an analogy to the system and cars.

Bear states, “you really need both the accelerator and the brake to properly function. In the case of Fragile X, it’s like the brakes are missing. So even tapping the accelerator can have the car careening out of control.”

According to NPR, the drugs, which were identified by Bear and other scientists, do not correct the brakes in the system. The drugs “limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.”

These drugs have reversed all most all of the effects of Fragile X in mice. They are currently being tested on humans and one study found that the first dose had an effect. One dose!

“The implications for people with Fragile X are huge. If the drugs work, people with the disorder could see their IQs rise and their autism diminish.”

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