Iqra Mumal, MSc,  —

A new visualization tool, created by Dutch researchers, details the genetic pathways of deleted genes in Prader-Willi syndrome (PWS) and Angelman syndrome (AS), showing that some common symptoms are caused by multiple genes. The study, “Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for…

Imprinting of the UBE3A gene – a phenomenon linked to Angelman syndrome – did not evolve as a method to control the dosage of UBE3A in neurons, a new study shows. The study, “Genomic imprinting does not reduce the dosage of UBE3A in neurons,” was published in…

The melatonin secretion profile of patients with Angelman syndrome is impaired, leading to a variety of sleep problems, a new study shows. The study, “Melatonin and Angelman syndrome – implications and mathematical model of diurnal secretion,” was published in the International Journal of Endocrinology. Sleep disturbances…

A test that assesses a fetus’s risk of having a chromosome disorder can help rule out the possibility that a baby will develop Angelman syndrome, a study reports. The test, which doctors began using in 2011, is called a cell-free fetal DNA (cffDNA) screening. Researchers published their article in the American…

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…

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…

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…

Researchers at the National Brain Research Centre in India have shown that inhibitors of the proteins HDAC1/2 might be a potential therapeutic for the treatment of Angelman syndrome (AS) as increased activity of the HDAC1/2 causes brain dysfunction and behavioral issues in mice with AS. The study, “Rescue…