Get regular updates to your inbox.
Winter break always brings me back to December 2010, when all I could think was, “This will be our last Christmas and New Year’s without an official diagnosis for Cammy.” We’d spent several long months going to appointments and therapies, trying to figure out why our 20-month-old daughter, who…
Read more
Acadia Pharmaceuticals has submitted a marketing authorization application for trofinetide to European Union regulators, seeking the therapy’s approval for adults and children, ages 2 and older, with Rett syndrome. The application to the European Medicines Agency (EMA) is Acadia’s first such submission in Europe, according to a…
About two in three girls with Rett syndrome develop scoliosis, a sideways curvature of the spine, while one in two exhibit foot deformities, according to a review study. About 30% of the patients experienced hip dislocations, the study found. In general, scoliosis was more prevalent in studies with a…
A new study sheds light on how MeCP2 protein dysfunction leads to brain abnormalities in Rett syndrome, and provides a framework to develop new treatments like gene therapies. Specifically, researchers conducted a study in adult mice and found the loss of the MeCP2 protein — not problems during development…
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.
Get regular updates to your inbox.
