Mary Chapman, features writer —

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Are you thinking of enrolling your child in a clinical trial for Angelman syndrome? Here’s information that may help you to decide. What is a clinical trial? The goal of clinical trials is to determine whether a device, procedure, or pharmaceutical therapy works and is safe. Clinical trials may…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Angelman syndrome is a complex neurological disorder characterized by symptoms such as scoliosis, walking difficulty, balance issues, behavioral problems, and seizures. If your child is among the 1 in 15,000 people with the disorder, you will likely need to provide aids and adaptations to…

Amicus Therapeutics has officially opened its Global Research and Gene Therapy Center of Excellence to advance the company’s gene therapy programs for rare diseases such as Angelman syndrome. Located in Philadelphia, the 75,000-square-foot research facility consists of offices and state-of-the-art laboratories. An invitation-only ribbon event in early…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Whether by donating or cheering on the sidelines, people can show their support for the running team put together by the Angelman Syndrome Foundation (ASF) during the Bank of America Chicago Marathon on Oct. 13. Called the foundation’s Windy City Angels (WCA), 22 runners each raised more…

The Angelman Syndrome Foundation (ASF) recently honored four individuals for their exceptional contributions to the Angelman syndrome community and to advancing research. Awards were presented to a special education specialist, researcher, former executive director of the foundation, and geneticist, during the 2019 ASF Scientific Symposium and Family…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…