News

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…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

The scientists who discovered the MECP2 gene and its role in Rett syndrome have been awarded the 2020 Brain Prize, the world’s largest neuroscience prize granted by the Lundbeck Foundation. Sir Adrian…