News

Researchers have found a specific type of genetic defect in stem cells derived from a patient with Angelman syndrome that have been used as a laboratory model to study the disease. The team claims that such alterations might have serious implications and should be taken into account when selecting this…

Humor is essential for the social, developmental and emotional well-being of people affected by different types of intellectual disabilities, including Angelman syndrome, and their caregivers, according to a recent literature review. The review, “Investigating humor in social interaction in people with intellectual disabilities: A systematic review of the literature,”…

Angelman syndrome can occur alongside a condition called dihydropyrimidine dehydrogenase (DPD) deficiency, which has varying degrees of severity and elusive disease mechanisms, a case report suggests. A connection between the two disorders, however, was not established and may be coincidence. The study, “Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical…

Minocycline failed to demonstrate any clinical benefits in the treatment of children and young adults with Angelman syndrome, results of a Phase 2 clinical trial show. The study, “A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE…

Nonepileptic myoclonus is a common feature in Angelman adolescents and young adults, and although it does not affect consciousness or cause cognitive consequences, it can affect quality of life significantly, a study shows The research, “Myoclonus in Angelman Syndrome…

The Angelman Syndrome Clinic has opened at Rush University Children’s Hospital in Chicago, Rush University Medical Center and the Angelman Syndrome Foundation (ASF) announced in a news release. It is the first such clinic in Illinois, bringing to eight the number in the United States. The…

The U.S. Food and Drug Administration (FDA) has designated  NSI-189  an orphan drug to help advance Neuralstem’s lead compound in development as a potential treatment of Angelman syndrome. Angleman “is a rare disease with significant unmet medical need, and for which there…

Deregulation of the brain’s ability to filter real neural signals without becoming overloaded could be the key to understanding the variety and severity of symptoms experienced by Angelman syndrome patients, according to researchers. The study, “Pathophysiological impact of diverse dysregulation of tonic inhibition in Angelman syndrome,” was presented by…

Treatment candidate OV101 showed a favorable safety profile and was well-tolerated in adults and adolescents with Angelman syndrome in a Phase 2 trial, according to a press release from Ovid Therapeutics, which is developing the therapy. With these positive results, Ovid now plans to start an open-label extension…

Abnormalities in a protein complex crucial for cell survival are likely caused by increased levels of the p18 protein and result in motor and cognitive issues in Angelman syndrome, a new mouse study shows. A study titled “UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity”…