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Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…
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…
A comprehensive communication intervention package improved the expressive communication and/or visual attention of three women with Rett syndrome, a small study shows. These findings suggest that the intervention — which combined aided language modeling (ALM), responsive partner strategies, and a gaze-controlled device — may be beneficial for this patient population.
The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…
A clinical trial evaluating oral Anavex 2-73 in children and teenagers with Rett syndrome is recruiting up to 84 girls, ages 5 to 17, at a center in Vancouver, Canada, and three sites in Australia. According to a press release from the Ontario Rett Syndrome Association, the British Columbia Children’s…
A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.
Supporters worldwide are marking Rett Syndrome Awareness Month, set aside each October to bring attention to Rett syndrome, a rare neurodevelopmental disorder that’s estimated to affect 1 of every 10,000 girls, and fewer boys. From posting on social media to sporting temporary tattoos, participants globally are raising awareness and…
A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…
The European Commission has granted orphan drug designation to TSHA-102, an investigational gene therapy for the treatment of Rett syndrome. The designation encourages the development of medicines to diagnose, prevent, or treat life-threatening or debilitating diseases that affect fewer than five in 10,000 people living in the European…
Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…
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