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Early, intensive training in motor and memory skills before symptoms develop may delay disease progression and help children with Rett syndrome retain specific milestones, a study in mice suggests. Observed benefits were not evident when training was given to symptomatic animals, its researchers wrote, supporting “genetic screening of newborns…
A $2.1 million grant will fund a study investigating if — and how — cells called astrocytes might affect the irregular breathing associated with Rett syndrome. Such disordered breathing is associated with a higher mortality rate and scientists remain unsure of how mutations in the MECP2 gene — the…
A gene therapy aimed at slowing disease progression and improving movement, coordination and communication in children with Rett syndrome, is being developed. Mostly seen in girls, Rett affects brain development, causing impairments such as progressive loss of motor skills and speech. “It’s often a full-time job as a parent,…
A fine balance of proteins called cohesins is important for the normal inactivation of the X chromosome, new research suggests. Better understanding how the activity of the X chromosome activity is regulated could be important for treating conditions like Rett syndrome, which is caused by a mutation in a…
The Arc and its advocates are welcoming the U.S. Congress’ decision to pass COVID-19-related economic stimulus legislation, which will extend access to Medicaid home and community-based services (HCBS) for people with intellectual and developmental disabilities (IDD). The $1.9 trillion American Rescue Plan Act of 2021, passed Tuesday and signed…
Note: This story was updated April 22, 2021, to clarify the collaboration between Yale and Taysha at the company’s request. Taysha Gene Therapies has established a new research partnership with Yale University to advance its gene therapy program for neurodevelopmental disorders, which includes Rett syndrome, the company announced.
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
A $200,000 Comcast NBCUniversal grant has been awarded to The Arc to increase access to educational resources for students of color and economically disadvantaged youngsters with intellectual and developmental disabilities (IDD), which can include Rett syndrome.
Researchers have identified a set of RNA molecules that are dysregulated in Rett syndrome and may be relevant biomarkers for the disorder. The study, “Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy,” was published in the journal…
Bruxism, also known as teeth grinding and jaw clenching, is the most common oral manifestation in patients with Rett syndrome, according to a small review of literature. The study, “Oral Manifestations of Rett Syndrome—A Systematic Review,” was published in the International Journal of Environmental Research and Public…
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