Angelman Syndrome News

May 11, 2022May 11, 2022

Researchers Detail Abnormalities in Gaits of Mice With Angelman

Mice with Angelman syndrome (AS) show clear abnormalities in walking patterns, and assessing these patterns may be useful for measuring the efficacy of potential therapies, a new study indicates. “Gait ... Read more

May 4, 2022May 5, 2022

New Disease-causing UBE3A Variant Identified in 6 Members of Family

Angelman Syndrome News

A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic ... Read more

April 29, 2022April 29, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Angelman Syndrome News

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

April 27, 2022April 27, 2022

Spotting Rare UBE3A Mutations Can Require Comprehensive Gene Testing

Angelman Syndrome News

A comprehensive genetic test called whole-exome sequencing (WES) can identify potential rare and disease-causing mutations that would be missed by standard tests for Angelman syndrome, a case report on a ... Read more

April 20, 2022April 20, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Angelman Syndrome News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 14, 2022April 14, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

Angelman Syndrome News, COVID-19 News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 13, 2022April 13, 2022

Low-cost Test Can Screen for Chromosome 15 Disorders Like Angelman

Angelman Syndrome News

A new low-cost molecular test can accurately distinguish people with Angelman syndrome from those without the disease and those with other chromosome 15 imprinting disorders, a study shows. While the ... Read more

March 30, 2022March 30, 2022

Phase 2 Trial of Neuren’s NNZ-2591 Cleared to Start in US, Australia

Angelman Syndrome News

Neuren Pharmaceuticals has received regulatory approval in the U.S. and Australia to start its Phase 2 trial of NNZ-2591, an investigational therapy for Angelman syndrome. The study (NCT05011851), which is ... Read more

March 25, 2022March 25, 2022

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Angelman Syndrome News

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over ... Read more

March 23, 2022March 24, 2022

New Medical Network Helping Angelman, Dup15q Patients Find Healthcare Providers

Angelman Syndrome News

A new medical network connects Angelman syndrome (AS) and dup15q syndrome patients with specialized, high-quality care globally. The initiative, called the LADDER Learning Network, derives from a partnership between the ... Read more

March 16, 2022March 16, 2022

RaDaR Serves as Starting Point for Creating Rare Disease Registry

Angelman Syndrome News

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric ... Read more

March 9, 2022March 9, 2022

Experts Detail Best Strategies for Angelman Care in New Guidelines

Angelman Syndrome News

An international team of experts has published a comprehensive document detailing the current best strategies to care for people with Angelman syndrome. The document, “A multidisciplinary approach and consensus statement to ... Read more

March 8, 2022March 8, 2022

#RAREis Representation Program Promotes Equity, Diversity

Angelman Syndrome News

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; ... Read more

March 2, 2022March 3, 2022

Rare Disease Day Panel Opens Window to Patient Experience

Angelman Syndrome News

BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including ... Read more

February 28, 2022February 28, 2022

Surge in Telehealth Brings Access, Convenience to Rare Disease Patients

Angelman Syndrome News, COVID-19 News

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day ... Read more