Modifications to MeCP2, the protein whose dysfunction underlies most cases of Rett syndrome, may help explain the wide range of symptoms seen in people with the condition, a new mouse study suggests. The study found that combining two chemical MeCP2 modifications produced complex behavioral and molecular effects that differed…
Discussion
At the International Rett Syndrome Foundation’s conference earlier this month in Minnesota, there was a “Caregiver Retreat Center,” a quiet room away from the main conference activities where parents and other caregivers could go to chill. The conference sessions were information-heavy and sometimes emotional, and this side room offered a…
Discussion
Only a small percentage of boys with Rett syndrome received treatment with Daybue (trofinetide) in the more than one year after the therapy was approved in the U.S., according to a real-world study of healthcare claims data. Before treatment, boys treated with Daybue had a greater burden of…
Discussion
It was, if I do say so myself, a brilliant idea, though it didn’t turn out quite the way I had envisioned it. As I was preparing to attend the International Rett Syndrome Foundation conference held earlier this month in Minnesota, I noticed that among the agenda items…
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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