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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…
A study in mice suggests that birth is a “critical period” in Rett syndrome (RTT), with neuronal alterations already present at that stage that might be reduced by early treatment of mothers. The study, “Early alterations in a…
Different domains used to assess quality of life in children with Rett syndrome also may be useful for adults, a study suggests. The study, “Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome,” was published in the journal Disability and…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
An extension study of a Phase 2 trial investigating Rett syndrome therapy candidate Anavex 2-73 has dosed its first patient. “We are delighted to provide continuation of Anavex 2-73 treatment for Rett syndrome patients,” Christopher U Missling, PhD, Anavex’s president and CEO, said in a press release. The…
Subtle but apparent signs of disease may precede the onset of overt symptoms in children with Rett syndrome (RTT), which could serve as early diagnostic markers or help deliver interventions ahead of symptoms that may increase these children’s chances of recovery. Accumulating evidence suggests that early…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Dietary supplementation with the amino acid L-serine improved motor and communication skills in a young girl with atypical Rett syndrome caused by a genetic mutation in the GRIN2B gene, a case report shows. The patient’s positive outcomes suggest that this dietary therapeutic approach may be helpful for those with…
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