rett syndrome


Imagining Gene Therapy For Girls With Rare Rett Syndrome

By Karen Weintraub
Guest Contributor

Imagine your daughter has a debilitating genetic disease — a disorder that will plague her for the rest of her life. Now imagine hearing about a treatment that might improve her condition dramatically.



That the kind of brimming-with-hope feeling many parents had six years ago when Scottish researcher Adrian Bird announced that he had reversed a genetic condition called Rett Syndrome in adult mice.

Of course everyone who heard about the study understood that curing a mouse is not the same as helping a person, but the improvements stunned researchers who had assumed that a mouse would never be able to recover from the restricted mobility, tremors and unusual brain activity that characterize the mouse version of the disease.

The parents of girls with Rett Syndrome – which occurs mainly in females, because males with the genetic mutation usually die before birth – suddenly had hope that their children might someday be able to talk, run, wave or blow them a kiss. Continue reading