Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
News
The National Institute for Neurological Disorders and Stroke, a division of the National Institutes of Health (NIH), awarded nearly $500,000 for a study seeking biomarkers of Rett syndrome. The $498,572 grant was awarded to DiamiR to conduct a study called “Circulating Organ-enriched microRNAs as biomarkers of…
A number of events are in the works to mark Rett Syndrome Awareness Month, observed each October to heighten awareness about the rare neurodevelopmental disorder. Patients, caregivers, and advocates may, among other activities, share stories on social media, attend virtual events, hold Facebook fundraisers, and sport temporary tattoos —…
Walking overground or on a treadmill is suitable as a tool to observe and detect gait changes in people with Rett syndrome, a small study has found. The study, “Characteristic behaviors associated with gait of individuals with Rett syndrome,” was published in the journal Disability…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest…
Addressing changes in the adenosine system, essential for nerve cell function in the brain, may be a therapeutic strategy in Rett syndrome, a study in mice reported. The study, “Impairment of adenosinergic system in Rett…
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…
Rettsyndrome.org has launched the International Rett Syndrome Foundation Medical Advisory Board, aiming to enhance care and research to help people with the neurodevelopmental disorder, according to the non-profit. The Advisory Board, composed of 11 Rett syndrome experts across leading hospitals and academic centers in the U.S., is chaired…
Girls and women with Rett syndrome caused by a mutation usually associated with milder disease have the poorest quality of life, according to a large study. Data from this and previous studies suggest that such patients experience behavioral problems, including sleep disturbances, that profoundly affect quality of life. The…
A Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy Anavex 2-73 (blarcamesine) in Rett syndrome has been completed, according to the company. Top-line results from the trial are expected before the end of the year. “We would like to…
Recent Posts
- Lamenting a broken memento of a big night out
- Study lays groundwork for mutation-specific Rett treatments
- The one question I wish my nonverbal child could answer
- The most difficult conversation I have ever had
- Experts recommend Daybue as first-line therapy for Rett syndrome
- Guest Voice: Like stars, the grief of losing my sister is always present
- The spa, the snow, and the Make-A-Wish gift that keeps giving
- Powder form of Rett treatment Daybue now widely available in US
- Opening day, and that time a ribbon wasn’t the only thing that was cut
- Fenfluramine reduces hard-to-treat seizures in 3 girls with Rett syndrome