Ana Pena, PhD,  —

Scientists have created a new rat model of Angelman syndrome (AS) that best mirrors the most common genetic cause of the disease and demonstrates many of its symptoms, including motor deficits, and learning and memory problems. The new model will likely offer a better tool for discovering and…

Using human nerve cells and three-dimensional “mini brains,” researchers have found that dysfunctional potassium channels may underly the development of seizures associated with Angelman syndrome. Their study, “Potassium channel dysfunction in human neuronal models of Angelman syndrome,” was published in the journal Science.

Fertility treatments could make babies more prone to genetic errors that lead to the development of Angelman syndrome and other disorders, an early study in mice has found. Contrary to what was anticipated by researchers, older maternal age did not increase the frequency of such problems in mice, suggesting…

Taking the dietary supplements oral betaine and Metafolin (L-methylfolate, the active form of folic acid) cannot effectively ease developmental symptoms of children with Angelman syndrome, a…

PTC Therapeutics announced a strategic partnership with Aldevron to ensure the production of high-quality plasmid DNA to be used with PTC’s investigational gene therapies, including AGIL-AS for the treatment of Angelman syndrome (AS). PTC’s growing gene therapy pipeline for genetic disorders of the central nervous system…

Behavioral tests based on how well a child performs specific tasks may be promising tools for evaluating memory and motor abilities in those with Angelman syndrome (AS) and be of particular use in clinical trials, a pilot study reports. The study, “Using Behavioral Approaches to Assess Memory, Imitation and…

Ovid Therapeutics has initiated the pivotal Phase 3 NEPTUNE trial to evaluate the experimental small molecule OV101 for the treatment of Angelman syndrome. The trial expects to enroll approximately 60 children ages 4–12, with enrollment set to begin during the third quarter of 2019 and top-line data…

While children with Angelman syndrome typically show happy, excitable behavior, they also are prone to hyperactivity and irritability, and tend to have short attention spans and aggressive outbursts — all of which have a negative impact on parents’ stress…

The neurological deficits that characterize Angelman syndrome may be rooted in the insufficient production of a small RNA molecule, called miR-708, that leads to abnormal calcium-activated signals in the brain, according to a mouse study. The study, “Down-Regulation of…

People with Angelman syndrome take longer to fall asleep, have poorer sleep efficiency compared to normally developing individuals and tend to prefer “baby foods,” a review study says. In their work, researchers propose that such behavioral biases may represent an extreme, abnormal manifestation of traits selected by evolution to…