There is one month of school left. For many families, that means countdowns, celebrations, and the final stretch of a busy school year. For me, it is a quiet reminder of all the moments my late daughter, Cammy, should be experiencing right now. Some of these milestones are exciting,…
In mouse models of Rett syndrome, disease-related changes in the MeCP2 protein were linked to widespread disruptions in histones, proteins that help package DNA and regulate gene activity within cells. That’s according to the study, “Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome,” published…
Discussion
It was just an overpriced Broadway bauble, so why has its demise made me so glum? Yeah, I broke our “Big River” coffee mug. I was putting it in the dishwasher yesterday and bumped it against the rack. The handle broke off in multiple pieces. We got the mug nine…
Different mutations that cause Rett syndrome can have divergent effects on brain cell activity, a study found. The findings “hold promise for understanding mutation-specific mechanisms of Rett syndrome, and developing targeted mutation-specific therapeutics,” the researchers wrote. Through a series of experiments using cell models, the researchers identified biochemical strategies…
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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