Modulating nerve cells to boost production of the mutant form of the MeCP2 protein that causes most cases of Rett syndrome may be a promising new therapeutic strategy for easing symptoms of the genetic condition. That’s according to new research in which U.S. scientists investigated this key protein using…
Discussion
Our daughter, Abby, who has Rett syndrome, just turned 29. It’s the kind of number that makes a parent think, “Can that possibly be right?” And, “Good golly, we’ve been doing this for a long time.” Abby may or may not care about birthdays, but if she does, she’s…
Acadia Pharmaceuticals will request a reexamination of a negative opinion recommending against approval of trofinetide, its oral therapy for Rett syndrome, in the European Union (EU). The therapy is already approved in the U.S., Canada, and Israel under the name Daybue. The opinion was issued by the Committee…
Discussion
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…
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.
Get regular updates to your inbox.
