Fragile X revisited

fragile x revisitedStephen Warren

Emory human genetics chair Stephen Warren has led research on fragile X syndrome since it was first identified nearly three decades ago as the most common inherited cause of intellectual disability. In 1991, he led a team that discovered the mutated gene on the X chromosome. Along with other Emory scientists, he helped develop a screening test for fragile X and has been studying it ever since.

Until recently, there has been no treatment, but in 2010, Emory joined four other medical centers in a phase 2 clinical trial that is testing a targeted drug therapy for the syndrome.

In the most recent findings from Emory, scientists collaborating with Warren show how the protein missing in fragile X syndrome acts as a molecular toggle switch in brain cells. To learn more about this research, published in the June issue of Molecular Cell, see bit.ly/fragileXtoggleswitch.

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