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For the past two months, I’ve been overwhelmed with thoughts of an upcoming milestone: My oldest, Cammy, will be graduating eighth grade at the end of this month. I imagine this transition is difficult for a lot of parents, especially if it’s the first child who’s going through…
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TSHA-102, an experimental gene therapy by Taysha Gene Therapies, can increase the levels of MeCP2 — a protein that’s not found in sufficient amounts or is dysfunctional in people with Rett syndrome — while causing no harm to cells that have normal levels of the protein. That’s according…
The Phase 1/2 REVEAL study, which is testing the investigational gene therapy TSHA-102 in women with Rett syndrome, is expected to dose its first participant in the next month or two, according to Taysha Gene Therapies, its developer. “Screening is completed, and dosing is now scheduled for our first…
Each year, we give out a Ripple of Hope Award at our annual fundraiser in honor of our daughter Cammy, who has Rett syndrome. It’s given to a person or group that gives us hope for a future of inclusion, acceptance, and embracing one another’s differences. This…
As columnist Jackie Babiarz prepares for her family’s 11th annual Rett syndrome fundraiser, she shares what makes the events so successful.
Want to stay up to date on all the latest on Rett syndrome? Click the link below to find more news and information.
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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