News

Implementation of meta-analysis — a statistical approach that combines information from different studies — using data from studies on the protein and genetic landscape of Rett syndrome is essential to discover new therapeutic targets for this disease, according to a recent review. The study, “Genome-wide transcriptomic and proteomic…

An algorithm that measures spontaneous variations in pupil dilation or heart rate could allow much earlier detection of Rett syndrome (RTT) and possibly other autism-related disorders, researchers have found. Scientists have developed a machine-learning program that spots changes in pupil dilation and heart rate linked with arousal that accurately…

The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) has endorsed Anavex 2-73 to receive orphan designation for the treatment of Rett syndrome, according to Anavex Life Sciences, the therapy’s developer. The proposal will now be evaluated by the European Commission, which will take into consideration…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Imbalance of thyroid hormones may contribute for the underlying biological mechanisms involved in Rett syndrome, results from a preclinical study suggest. The findings, “Altered Gene Expression of Thyroid Hormone Transporters and Deiodinases in iPS MeCP2-Knockout Cells-Derived Neurons,” were published in the journal Molecular Neurobiology. Rett syndrome…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Microswitches can be used as assistive technology to help improve choice-making and activity engagement in children with Rett syndrome, according to a recent study. Led by researchers in Italy, the study “Experimental Examination and Social Validation of a Microswitch Intervention to…

Exosomes — small vesicles released by cells that play an important role in cell communication — carry chemical signals that help regulate the function and development of neural circuits and may even reverse some of the abnormal features observed in a cellular model of Rett syndrome, a study has…

Certain microRNAs (miRNAs) abundant in the brain and detectable in the blood can serve as potential biomarkers of disease course for people with Rett syndrome, according to a recent study. Some miRNA combinations were found promising for detecting specific symptoms and signs, such as alterations in cholesterol levels and…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…