While early brain structures appear to form normally in Rett syndrome, problems emerge later as brain cells grow, move, and begin communicating, according to a new study using lab-grown brain models. An examination of 3D brain organoids grown from patient-derived stem cells found that certain brain cells matured more…
In Rett syndrome, certain brain cells that form before birth and mature slowly remain immature and do not develop normally, suggesting that the condition disrupts brain development in specific areas rather than the entire brain, according to a mouse study. By studying female Rett mice after symptoms appeared, researchers…
Acadia Pharmaceuticals has hit a roadblock in its quest for European approval of trofinetide, the company’s oral therapy for Rett syndrome, which is already approved in the U.S., Canada, and Israel under the name Daybue. Acadia submitted an application…
Discussion
I never thought about where I sat in the school’s gymnasium until my late daughter, Cammy, gained a wheelchair when she was 3. For most of my life, taking a seat was automatic — I’d climb to the top row of the bleachers, without hesitation, and settle in wherever the…
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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