Researchers show two distinct MECP2 mutations in Rett syndrome elevate miRNA-126-3p, lowering ZO-1 and weakening blood-brain ...

Neuroscientists discover that Rett syndrome mutations cause a leaky brain via overexpressed miRNA-126-3p, pointing to a new therapeutic target for vascular repair.

MIT researchers have discovered that two common genetic mutations that cause Rett syndrome each set off a molecular chain of events that compromises the structural integrity of developing brain blood ...

Marijuana extract shown to cut life-threatening seizures in half for children with severe epilepsy. A landmark clinical trial has revealed that a drug derived from medical marijuana can significantly ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized ...

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

Rare diseases often hide in plain sight — behind delayed milestones, feeding difficulties or symptoms that seem minor at first glance. Lesch-Nyhan Syndrome (LNS ...

RGX-121 was rejected in early February, with Regenxbio listing the primary reasons given by the FDA as concerns about the ability to properly define a patient population, the use of a natural history ...

Evox Therapeutics Ltd ("Evox" or the "Company"), a biotechnology company developing innovative therapies for genetically driven neurodegenerative diseases using a next-generation gene editing modality ...

Atrium is led by Kathleen Gallagher, who was chief programme officer at Avidity before it was acquired by Novartis and will ...