News

The Epilepsy Foundation has launched a free mobile app called Nile as a self-management healthcare tool to help people with epilepsy, including those with disorders such as Dravet syndrome. It replaces the foundation’s My Seizure Diary application, which for 15 years has helped patients to monitor and track seizures,…

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…

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…

Treatment with soticlestat, an inhibitor of cholesterol turnover in the brain, protected against fever-induced seizures in two mouse models of Dravet syndrome, a study has found. In one of the models, the experimental therapy also prevented sudden unexpected death in epilepsy (SUDEP), a rare complication of seizures —…

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…

Eight adults with lifelong histories of epilepsy and developmental delays without any known cause were diagnosed with Dravet syndrome after undergoing genetic testing, a new study reports. The finding suggests “that a number of adult patients are currently undiagnosed and have unmet health needs,” according to researchers. “In our…

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.

Pharmaceutical giant UCB has agreed to buy Zogenix, the developer of Fintepla (fenfluramine), an oral add-on medicine that treats seizures associated with Dravet syndrome, a rare type of epilepsy. The purchase, which could cost UCB up to about $1.9 billion, is a step toward expanding the company’s…