Stimulating the vagus nerve, part of the autonomic nervous system that regulates involuntary functions, paired with sound tones, may support the development of future therapies for communication deficits in Rett syndrome. Researchers found that VNS-tone pairing changed protein levels in the brain’s sound-processing region in a rat model of…
News
Mutations in the MECP2 gene  — the main cause of Rett syndrome — may disrupt early development by altering how DNA is three-dimensionally organized within chromatin, the complex of DNA and proteins that packages genetic material inside cells, according to a study in China. “This work provides a new…
Abnormally high activity of the MECP2 gene can profoundly disrupt immature brain cells during early development, but appears to have only modest effects in mature nerve cells, according to a new study. The findings may have important implications for the development of gene therapies for Rett syndrome, which is…
Families of girls and young women with Rett syndrome reported reduced overall quality of life, with emotional well-being emerging as the most affected area, according to a study from Brazil. Better family quality of life was associated with higher income, private health insurance, regular school attendance, and the absence…
Unravel Biosciences announced it has begun dosing in a proof-of-concept clinical trial evaluating its experimental therapy, RVL-001, in people with Rett syndrome. Richard Novak, PhD, Unravel’s co-founder and CEO, said this marks “an important milestone for our company and for [people with] Rett syndrome” in a company…
Blocking the signaling of leptin — a hormone involved in appetite regulation, motor function, and behavior — eased some Rett syndrome-like symptoms in a mouse model of the disease, a study found. Data showed that reducing leptin signaling either pharmacologically or genetically in male mice with Rett-like symptoms helped…
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…
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…
New recommendations support the use of the ready-to-use liquid formulation of trofinetide, sold as Daybue, as a first-line therapy for eligible people with Rett syndrome. A panel of 25 experts in managing the disease reached consensus on the recommendations. The panel endorsed early treatment initiation and an…
Daybue Stix, a powder formulation of Daybue (trofinetide), is now widely available for eligible people with Rett syndrome in the U.S., according to Acadia Pharmaceuticals, which markets both therapies. “The availability of DAYBUE STIX gives us an additional, flexible way to administer trofinetide, which allows us more…
Recent Posts
- Hindsight illuminates the early signs that my daughter had Rett syndrome
- VNS-tone pairing alters brain proteins in Rett syndrome rat model
- Squishy words, and that elusive cure for Rett syndrome
- Rett mutations may disrupt early development through DNA remodeling
- Going all in on my plan to ease fundraising fatigue
- How eye-gaze technology helped our daughter find her voice
- Mature nerve cells may tolerate higher MeCP2 levels, new study suggests
- Emotional well-being hit hardest in families managing Rett syndrome
- The great snake experiment. Also, goats.
- For the first time in years, Mother’s Day felt like a celebration