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…
Sleep disturbances and epilepsy, which affect about 80 percent of pediatric Angelman syndrome patients, improve over the years, new Italian study shows. The study, “Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients,” appeared in the journal…
A global online Angelman syndrome registry that Australian researchers started in September 2016 has researched a critical mass, its founders report. Two hundred eighty-six people joined the registry in its first eight months. That number should not only help facilitate research but also help scientists identify patients who might want…
An analysis of the most common causes of hospitalization among patients with Angelman syndrome reveals that they differ based on age and gender. The study, published in the Journal of Applied Research in Intellectual Disabilities, shows common healthcare needs among sub-groups of Angelman patients, which may help design tailored…
Researchers identified differences in Angelman Syndrome (AS) symptoms across different strains of mice with AS. This work paves the way to finding the best mouse model for testing drugs to treat seizures and other deficiencies in AS. The study, “Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal…
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