A specific modification made in the huntingtin protein, which plays a key role in brain development, was able to improve motor and lung function and prolonged the survival in a mouse model of Rett syndrome, a study has found. In particular, this alteration promotes the transport of…
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Researchers have identified an unusual genetic variant in the EEF1A gene as the likely cause of Rett syndrome-like disease in a young Australian girl. After standard genetic testing failed to identify the cause of her disease, researchers turned to the more advanced whole-exome sequencing (WES) technology…
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Mutations in Only One MeCP2 Protein Form Leads to Milder Rett Symptoms in Boy, Report Indicates
Mutations that affect a specific form of the MeCP2 protein may lead to milder symptoms of Rett syndrome in males, the case report of a 9-year-old boy suggests. The study, “MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome,” was published in the…
The United States Patent and Trademark Office (USPTO) granted a patent to Anavex Life Sciences covering Anavex 2-73 (blarcamesine) as a potential therapy for neurodevelopmental disorders, including Rett syndrome. The patent (No. 10,507,196) is valid until at least 2037 and also covers methods of treatment based on…
Low levels of a protein called KCC2 disrupt the ion transport balance in nerve cells and may underlie the developmental defects in people with Rett syndrome, a study says. The study, “KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients,” was published in…
Two new mutations causing Rett syndrome in the KIF1A and GRIN1 genes were discovered in two Chinese infants, a study reports. This research highlights the importance of an appropriate clinical follow‐up to ensure an accurate diagnosis, as some patients with genetic metabolic diseases may initially show…
StemoniX and Atomwise will work together to discover and develop small molecules that could be potential new therapies for people with Rett syndrome. This collaboration will take advantage of StemoniX’s human microOrgan platform and combines it with Atomwise’s artificial intelligence technology to expedite the development…
Parents of adolescents with Rett syndrome and other neurological or psychiatric conditions are open to treatment with deep brain stimulation (DBS) to control disease symptoms, a survey shows. The findings of “Parental Attitudes Toward Deep Brain Stimulation in Adolescents with Treatment-Resistant Conditions” were published in the…
Newron Pharmaceuticals will meet with the U.S. Food and Drug Administration (FDA), which requested a meeting to discuss the company’ statistical plan for releasing data from its pivotal STARS Phase 2/3 study of sarizotan in treating Rett syndrome patients with breathing problems.
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
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