Patricia Inácio, PhD,  science writer—

Female rats genetically engineered to carry a deficient Mecp2 gene — whose mutations are the leading cause of Rett syndrome — show social, behavioral, and motor symptoms that are similar to those of humans with the neurodevelopmental disorder, a study reports. These symptoms were associated with low levels of the…

Impaired function of the MeCP2 protein — the most common cause of Rett syndrome — causes defects in a process called RNA splicing, affecting protein production from genes important for nerve cell communication. The study with that finding, “Rett syndrome linked to defects in forming the…

Binding to the zinc finger protein 483 (ZNF483) may move the MeCP2 protein — defective in most cases of Rett syndrome — away from the cell nucleus, which likely affects gene activity in nerve cells, a lab study suggests. These findings shed light on the potential processes regulating the…

The lack of a working MeCP2 protein — the most common cause of Rett syndrome — skews the immune system toward a proinflammatory state in the central nervous system (CNS, brain and spinal cord), a study in mice suggests. According to its scientists, this finding helps in understanding the…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Elevated levels of two neuroprostanes — markers of oxidative stress, a result of insufficient antioxidant defenses against toxic free radicals — are linked with symptom severity and type of mutations in people with Rett syndrome, a study reports. These findings support the potential of the neuroprostanes as biomarkers to…

The International Rett Syndrome Foundation (IRSF) has designated 15 clinics across the U.S. as members of the Center of Excellence Network. These 15 centers, some newly designated and located in 14 states across the country, will integrate the foundation’s network of clinics designed to provide best-in-class care for people…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Acadia Pharmaceuticals is enrolling participants at four new clinical sites in its Phase 3 LAVENDER trial testing trofinetide as a treatment for girls and young women with Rett syndrome. In an online letter to the Rett community, Acadia announced these recent additions: Seattle Children’s Hospital; the University of North Carolina…