It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
News
A molecular sensor of infections called the NLRP3 inflammasome is overactive in immune cells of people with Rett syndrome, a new study reveals. The study, “The constitutive activation of TLR4-IRAK1- NFκB axis is involved in the early NLRP3 inflammasome response in peripheral blood mononuclear cells of…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
People with Rett syndrome are likely to undergo an intervention at some point in their lives to ease their characteristic hand stereotypies, or continuous and purposeless hand movements, a Japanese study reported. Factors associated with this included age at diagnosis, walking difficulties, and the frequency of hand mouthing. Further studies…
Rett syndrome community members are invited to participate in a public meeting with the U.S. Food and Drug Administration (FDA) to share their perspectives about the condition and help influence the development of new therapies. Hosted by the International Rett Syndrome Foundation and the Rett Syndrome Research…
The Rett Syndrome Research Trust (RSRT) has joined the new Accelerating Medicines Partnership (AMP) Bespoke Gene Therapy Consortium (BGTC), which is working to speed the development of gene therapies for rare diseases. Launched in October 2021, the consortium is the latest AMP initiative — and the first focusing…
Anavex 2-73 (blarcamesine), Anavex Life Sciences’ investigational oral therapy, safely and effectively eased the characteristic behavioral features and severity of Rett syndrome in treated women, while improving their quality of life, according to top-line data from the Phase 3 AVATAR trial. The findings, indicating that the trial met its…
The Rett Syndrome Research Trust (RSRT) has invested $3.1 million in a slew of research projects as part of its CURE 360 initiative. CURE 360, which launched last year, aims to help move preclinical advances toward treatments for Rett syndrome — with the ultimate goal of developing…
Regulatory RNAs involved in nerve cell signaling and structure were altered in cell and mouse models of Rett syndrome, with these changes also evident in tissue from deceased patients, a study reported. These findings aid in understanding the biological processes impaired in Rett and may reveal potential biomarkers to…
Sex-specific changes in the gut microbiome and associated metabolites came before disease progression in a mouse model of Rett syndrome, a study demonstrated. Notably, the study showed that female Rett mice models mimicked the syndrome’s microbial and molecular signatures better than male Rett mice, which are primarily used in…
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