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Decreasing UBE3A levels has a profound effect on the expression of multiple other genes, mostly due to chemical modifications in the DNA, a new study found. The research shows that loss of UBE3A-affected genes were associated with autism, decreased motor and cognitive activity, and energy expenditure, providing a new link between…

Arc-dependent synaptic response differs in a mouse model of Angelman syndrome (AS) from that seen in healthy mice, and may be related to the cognitive problems patients with this disease experience, researchers report. The study, titled “Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons…

Ovid Therapeutics will present new data from its lead investigational drug, OV101, to treat neurodevelopmental symptoms of diseases like Angelman syndrome and Fragile X syndrome, at the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop. The conference begins today in Saint-Alexis-des-Monts, Quebec. On Oct. 15, Dr. Brett Abrahams, Ovid’s director and head…

Agilis Biotherapeutics said its Angelman syndrome gene therapy development is on track, with initial animal studies making way for tests needed before the therapy can be tried in humans. The Cambridge, Massachusetts, company announced that it plans to choose a lead candidate before consulting the U.S. Food and Drug Administration…

Two experts on Angelman syndrome will be among 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington. The two-day event, now in its sixth year, is hosted by the nonprofit National Organization for Rare Disorders (NORD). It is expected to attract 550 to 600…

Researchers in India might have identified an enzyme that is crucial to forming connections between neurons. Defects in this enzyme – called the Rnf2 E3 ligase – is thought to lead to neuronal conditions like Angelman syndrome. Their study, “Modulation of hippocampal synapse maturation by activity-regulated E3 ligase via non-canonical…

Levodopa failed to improve the neurodevelopment or behavior of children with Angelman’s syndrome, a study shows. Patients tolerated the therapy well, however, researchers reported. The study, titled “A randomized controlled trial of levodopa in patients with Angelman syndrome,” was published in the American Journal…

In a mouse model of Angelman syndrome (AS), pain sensitivity increased due to genetic alterations in the central nervous system, new research from The University of North Carolina at Chapel Hill (UNC) shows. The study, “Enhanced nocicepion in Angelman syndrome,” was published in…

The genomic deletions associated with Angelman syndrome, 1p36, cri-du-chat, and Prader-Willi can be more accurately detected with the revised protocol of a non-invasive prenatal test, a new study shows. The test analyzes tiny pieces of the fetus’ DNA, which circulate freely in…

Throughout evolution, genomic recycling of protein-coding genes gave rise to part of non-coding genes within our genome, known as long non-coding RNAs, or lncRNAs, a Weizmann Institute of Science study suggests. The findings will help scientists understand the role of lncRNAs in healthy and diseased conditions, such as Angelman…