News

Loss of MECP2, the defective protein in most people with Rett syndrome, induces premature growth arrest of bone marrow stem cells — known as senescence — and limits their energy production, according to a mouse study. These biological alterations may underlie the development of the disease, the researchers…

Cannabidivarin, a non-psychotic compound found in cannabis, fully rescued memory deficits and delayed the appearance of neurological and motor defects in a mouse model of Rett syndrome (RTT), a study found. The results, “Cannabidivarin completely rescues cognitive deficits and delays neurological and…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Teeth malocclusion, or misalignment, is linked to severe dysphagia (difficulty in swallowing) in girls with Rett syndrome, a study finds. The research was reported in a study, “Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study,” published in the Sultan Qaboos University Medical Journal.

A new Phase 2 clinical study to evaluate the investigational therapy candidate Anavex 2-73 for the treatment of Rett syndrome has started in Australia, Anavex Life Sciences and the Rett Syndrome Association of Australia (RSAA) announced. The study (NCT03941444), named AVATAR,…

Preclinical data from mouse studies support initiating first-in-human clinical trials to explore the safety and effectiveness of the investigational gene therapy AVXS-201 in patients with Rett syndrome. Recent results have shown that one-time treatment with AVXS-201 is safe and well-tolerated in mice and non-human primates and supports the production…

Some people with Rett syndrome have an overabundance of nerve fibers associated with the senses in their skin, which may be linked to why some patients have cold hands and feet or are insensitive to pain, a small study found. The findings,…

A study in rats has provided new clues as to how the brain works to control body movements, which may have implications for disorders such as Rett syndrome. The study, “Strong neuron-to-body coupling implies weak neuron-to-neuron coupling in motor cortex,” was published in the journal Nature…

Mutations in the MECP2 gene, the underlying cause of Rett syndrome, affect  genes that regulate several cellular functions, including inflammation, cellular stress responses, and organization of cellular structures. The study with that finding, “Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes,” was published in…