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The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…

Researchers at the Salk Institute for Biological Studies have mapped how DNA methylation — a process that controls gene expression — changes over time before and after birth in mice to better understand the underlying mechanisms of developmental disorders such as Rett syndrome. …

Taysha Gene Therapies received $95 million in funding that will support the clinical development of its gene therapy program for neurological disorders that include Rett syndrome. The gene therapy for Rett is called TSHA-102 and is one of 17 such treatments being developed by Taysha. All use…

Mutations in the MECP2 gene, which lead to most cases of Rett syndrome, prevent the formation of droplet-like structures that regulate DNA accessibility in cells, a study has found. Understanding how this process works could open paths to new therapeutic strategies in Rett, researchers said. The study, “…

Note: This story was updated July 24, 2020, to note that Rett affects mostly girls and women, but can also occur in males.  About 40% of parents whose daughters have Rett syndrome show clinically high levels of stress, an Italian study found. Stress levels correlate with both disease…

For the first time, scientists have repaired a mutation in mice that underlies Rett syndrome, partially restoring lost protein function, a recent study reports. The findings provide proof of principle that a technique called RNA editing might prove an effective therapeutic strategy in humans, according to the researchers involved…

By targeting a protein called BRD4, an experimental cancer treatment known as JQ1 reversed cellular abnormalities and extended survival in a mouse model of Rett syndrome, a study shows. Results point toward BRD4 as a new potential target for Rett syndrome, scientists said. The study, “…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

A Phase 2/3 trial evaluating the treatment candidate Anavex-2-73 (blarcamesine) in children and adolescents with Rett syndrome has started dosing participants, according to Anavex Life Sciences, the therapy’s developer. The trial, named EXCELLENCE (NCT04304482), is testing the safety and efficacy of the small molecule therapy as…