Researchers have discovered that early inactivation of the X chromosome is a two-step process regulated by two different genetic structures, a finding that may open up new possibilities for the treatment of X-related diseases, such as Rett syndrome. The study, “Xist Repeats A and B…
Treatment with the diabetes therapy metformin is able to restore energy production in the brain and reduce oxidative stress associated with Rett syndrome, a study in mice suggests. Yet, the therapy failed to ease motor symptoms in animals with fully developed disease, stressing the need for more…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
U.S. enrollment for a Phase 2 clinical trial of investigational therapy Anavex 2-73 (blarcamesine) for Rett syndrome has surpassed its initial target number of participants by nearly 50%. Anavex Life Sciences announced in a press…
Acadia Pharmaceuticals is again enrolling in its Phase 3 LAVENDER trial testing trofinetide as a treatment for girls and young women with Rett syndrome. Recruitment had been temporarily paused in March, while the U.S. took measures to control the COVID-19 pandemic. In an online letter,…
Combining conventional cognitive training with transcranial direct current stimulation (tDCS) — a non-invasive, painless brain stimulation approach — safely improves attention and language skills in girls and young women with Rett syndrome, a study reports. Data suggest that tDSC potentiates the benefits of traditional training and support their…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
Several genes involved in lipid (fat) metabolism, nerve cell communication, and DNA damage response may be therapeutic targets for Rett syndrome, a genetic screening in mice suggests. The work, which identified mutations associated with eased Rett symptoms in mice, was the first to point out the involvement of…
While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…
Blocking the activity of pro-inflammatory P2X7 receptors — a class of receptors found in immune cells and in glial cells (cells that support and protect neurons) — can reduce brain inflammation and ease defects in social behavior, a study of a mouse model of Rett syndrome shows. The research, study…
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