For more than a week now, our daughter, Abby, has been fighting off respiratory syncytial virus, or RSV, a rapacious bug that invades the respiratory tract. I gave it to her. It’s hard to watch her struggling with the deep cough, the phlegm, the runny nose. Abby, who is 29…
Discussion
“Do we have chunky peanut butter?” It was an ordinary question my husband asked one afternoon last year. He was standing in the kitchen, scanning the pantry, and thinking about sandwiches. But his question stopped me cold. For 15 years, only smooth peanut butter filled our shelves. Not because we…
A lack of enough MecP2 protein, a hallmark of Rett syndrome, may impair sensitivity to pain before the onset of motor symptoms, a new study suggests. The study used female mice with mutations in one of the Mecp2 gene copies (Mecp2-het), which leads to a deficiency of the MecP2…
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…
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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