Rett syndrome is a genetic disorder that mostly affect girls and is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. A study recently published in the journal Neurology reports encouraging results from a mid-stage clinical trial for an experimental therapy to treat the condition. The patient organization Rettsyndrome.org played a key role in identifying the potential application for the drug in Rett syndrome and provided early funding. We spoke to Steve Kaminsky, chief science officer of Rettsyndrome.org about the drug, the role his organization has played in its development, and how it may one day change the landscape for patients with the condition.