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…
Partially restoring the production of MeCP2, the protein deficient in people with Rett syndrome, reversed abnormal nerve signaling in the brain’s visual cortex, improving visual acuity in a mouse model, a study found. “This underscores the transformative potential of genetic medicine-based therapies in [Rett], suggesting that even partial restoration…
Discussion
On Jan. 3, 2012 — my husband’s birthday — our late daughter, Cammy, received her voice. It wasn’t a voice in the traditional sense, as it didn’t come from her mouth or vocal cords. Rather, it came from a computer — a technology so advanced it felt almost unreal.
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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