Blocking HSF1, a protein active during the cellular stress response, may be a novel therapeutic target for easing symptoms in Rett syndrome, a new study suggests. Researchers found that an overactive cellular stress response driven by HSF1 appeared to worsen symptoms in Rett mice. Blocking the HSF1 pathway —…
Discussion
If, like me, you have a child with Rett syndrome and an older, neurotypical child, it’s easy to fall into the “she’ll never” cauldron of gloom. “She’ll never get two MVP awards in high school softball like her older sister.” “She’ll never earn three college degrees like…
Discussion
Having a child with special needs can sometimes feel like you are constantly dodging punches in a boxing ring. Yet you can’t throw any punches yourself; you’re just playing defense and trying to protect your child from the next challenge. Rett syndrome slowly robs a child of abilities many…
Discussion
The European Commission has approved Acadia Pharmaceuticals’ Daybu (trofinetide) — sold elsewhere as Daybue — as the first treatment authorized in the European Union for disease-related behavioral, emotional, and communication issues in people with Rett syndrome, ages 5 and older. The oral therapy, taken by mouth or via a…
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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