Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
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AveXis Delays Trial of Rett Gene Therapy, AVXS-201, to Conduct New Tests and Quality Control Checks
AveXis is postponing plans to open a clinical trial of its Rett syndrome gene therapy candidate AVXS-201. “Out of caution,” it will instead conduct additional preclinical tests and quality controls checks before asking for new regulatory approval for a study in patients. In a statement to the…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Chemical modifications in the protein KCC2 that accelerate its activity during brain development may alleviate some of the cognitive and behavioral symptoms of several neurodevelopmental disorders, including Rett syndrome, a mouse study has found. The study, “Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function,”…
Monkeys with Rett syndrome pay more attention to stronger social visual stimuli than healthy animals do, an eye-tracking study has found. The findings, “Social-Valence-Related Increased Attention in Rett Syndrome Cynomolgus Monkeys: An Eye-Tracking Study,” were published in Autism Research. Rett syndrome is a rare genetic…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
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…
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