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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 Angelman Syndrome Foundation (ASF) and Dup15q Alliance. Angelman is caused by a missing or malfunctioning UBE3A…
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 Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
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 establish standards of care for Angelman syndrome,” was published in Molecular Genetics & Genomic Medicine. To…
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; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
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 conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
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 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Early intervention with environmental stimulation appears to have restored motor coordination and behaviors in a mouse model of Angelman syndrome. The protocol was more successful in male mice than in females, suggesting that “slightly different therapeutic approaches may need to be taken with males and females undergoing treatment for [Angelman…
International Angelman Day is Feb. 15 and, around the world, about 50 organizations and scores of supporters will come together to bring attention to the neurological disorder and the needs of the half-million individuals thought to be affected. Angelman syndrome (AS) is a complex genetic disease that can…
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