NGN-401, an experimental gene therapy for Rett syndrome, acts quickly in the nervous system to increase levels of the critical protein MeCP2, which is missing or defective in patients, according to new preclinical data. The therapy, developed by Neurogene, is currently in late-stage clinical trials. “We found that NGN-401’s…
Discussion
There are three things it would never occur to me to do that some people actually do: Catch a rattlesnake and eat it. Play hockey underwater. Board a commercial airliner wearing a Halloween costume. This last one comes to mind because of an article I saw…
Discussion
The term “Rett-like” may offer little information about a person’s condition or what to expect over time, a systematic review suggests. The label is often used for people who have some features of Rett syndrome but do not meet the criteria for a diagnosis. Researchers reviewed published reports of…
Discussion
My two most recent columns were about the documentary “Silent Angels: The Rett Syndrome Story,” and how it came to be. The film was broadcast on television in 2000, the year our daughter Abby, who has Rett syndrome, turned 3. When I rewatched it to write…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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