Marisa Wexler, MS,  senior science writer—

Rett syndrome is marked by unusually low levels of LAT1, a protein that’s needed to move amino acids — the building blocks of proteins — into the brain. That’s according to the study, “Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission,” published in the Journal of Inherited…

Electrically stimulating a specific region of the brain led to improvements in memory in a mouse model of Rett syndrome — and these benefits persisted for several weeks after the brain stimulation was stopped, a new study reports. Repeated brain stimulation could promote even longer-term memory improvements, according to…

Treatment with a modified version of a signaling molecule called NGF improved survival and normalized behavior in a mouse model of Rett syndrome, a new study reports. The study, “Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome,” was published…

A second adult with Rett syndrome has been given the experimental gene therapy TSHA-102 in an ongoing clinical trial, according to an announcement from the therapy’s developer, Taysha Gene Therapies. “Dosing the second adult patient in the REVEAL Phase 1/2 adult trial in Canada marks important progress…

Girls with Rett syndrome have detectable abnormalities in the electrical activity in their brains, a new study confirms. The study, “Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome,” was published in Scientific Reports. Brain cells communicate with each other by sending…

Repetitive movements of rubbing the hands together are associated with an increased risk of skin injuries in people with Rett syndrome, but repetitive movements of raising the hands to the mouth are linked with better mobility in the shoulders and elbows. That’s according to the study, “…

The first woman with Rett syndrome given the gene therapy TSHA-102 has experienced improvements in her sleep, breathing, and motor skills in the first weeks since the treatment. That’s according to new data announced by Taysha Gene Therapies, the company developing TSHA-102. “We believe the initial safety profile…

Parents of children with Rett syndrome are able to detect disease-specific differences in the sounds made by babies who have not yet begun to speak. That’s according to a study, “Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations,” published in Research…

More than a quarter of men at large may carry mutations causing Rett syndrome in a portion of their sperm, a study suggests. The study, “MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males,”…

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…