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…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help identify and diagnose people with the condition, the researchers said. The study, “Investigation of age-related facial…
A ketogenic diet safely and rapidly controlled treatment-resistant prolonged non-convulsive seizure activity in two girls with Angelman syndrome caused by a new mutation in the UBE3A gene, a study shows. These therapeutic benefits were observed before the detection of ketone bodies, the fat-derived molecules produced by the liver to…
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