Forest Ray PhD,  —

Patients with Rett syndrome have similar spinal surgery outcomes to those of people with cerebral palsy (CP), according to new research. The findings also revealed comparable degrees of spine abnormalities before surgery, as well as similar duration of hospital stays. The study, “Surgical outcomes…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

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, “…

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…

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…

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,…

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.