News

Machine learning methods could improve the ability of clinical trials to detect if treatments targeting the brain — such as for Angelman syndrome — are effective, as these methods are more sensitive to change than traditional statistical tests, say researchers from University College London. Such methods could solve the problem…

The successful development of meaningful therapies for rare diseases such as Angelman syndrome requires scientists to find out what matters most to patients with these conditions, two European researchers argued in an opinion piece promoting patient-centered outcomes. In the commentary, published in the Orphanet Journal of Rare Diseases, the…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

The Angelman Syndrome Foundation (ASF) plans to award one- or two-year grants of up to $100,000 to projects that test new ideas regarding the biology behind Angelman syndrome and treatments for the genetic disease. The ASF conducts biannual calls for proposals through its research funding program. Applications are accepted on a rolling…

A statin used to lower blood cholesterol levels, lovastatin, was seen to ease seizures and the excitatory neurotransmission that accompanies them in a mouse model of Angelman syndrome (AS)-associated epilepsy, researchers report. The steps taken in this study, its authors suggest, may also serve as a model for testing potential anti-epilepsy…

Based on the case study of a boy who has a rare defect in the UBE3A gene that went undetected using the usual genetic tests for Angelman Syndrome, a team of London researchers has recommended special analyses to detect the mutation. The study, “Angelman Syndrome due to…

Patients with Angelman syndrome (AS) often have gastrointestinal (GI) issues such as constipation, reflux and abnormal food-related behaviors, according to new research. The study, “Prevalence of gastrointestinal symptoms in Angelman syndrome,” appeared in the American Journal of Medical Genetics Part A. Its senior author is…

Billed as “Chicago’s largest celebrity fundraiser,” the 2017 FAST Global Summit & Gala aims to raise a record $2 million toward finding a cure for Angelman syndrome (AS). The annual extravaganza, which generated $1.3 million in donations last year, takes place Dec. 1-2 at the Hyatt Regency Chicago and…

The unmet clinical needs and general lack of treatment options for people with Angelman syndrome (AS) were the focus of a literature review, which also underscored the lack of research being conduced in people with this disease. The study, “Unmet clinical needs and burden in Angelman syndrome:…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…