News

Swiss pharmaceutical giant Roche plans to begin recruiting this summer for an endpoint study in Angelman syndrome that will not test any drug therapy. Instead, the study aims to find ways to measure disease impact in the home and clinic — and use new technologies to learn about…

Ovid Therapeutics’ experimental therapy OV101 has been shown to improve sleep, motor function, communication skills, and reduce challenging behavior and anxiety in patients with Angelman syndrome in a Phase 2 study. Results from the trial were recently discussed at the 2019 American Academy of Neurology’s (AAN)…

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…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

EpiSign is a newly developed blood test that helps diagnose several diseases, including Angelman syndrome, based on specific genetic changes in cells. EpiSign was developed as a collaborative effort between Greenwood Diagnostic Laboratories at the Greenwood Genetic Center in South Carolina and Ontario’s London Health Sciences Centre (LHSC). Diseases can develop in…

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…

Angelman syndrome is caused by a lack of functional UBE3A gene in the brain. Thus, getting brain cells to express a functional UBE3A gene seems like a fairly intuitive therapeutic strategy. Yet at what point during disease progression must UBE3A be introduced in order to avoid the changes seen in…

For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only in a progenitors’ sperm or eggs and is passed on to an individual from otherwise healthy parents — has been associated with Angelman syndrome in two Chinese siblings, researchers…

A new study reports differences in brain activity among Angelman syndrome patients whose disease arises because of changes in the UBE3A gene. The research with that finding, “Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes,” was published in Biological Psychiatry. Angelman syndrome is defined by a lack…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…