News

Rare Disease Day Panel Opens Window to Patient Experience

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…

Q&A With RARE-X Disease Data Platform Founder, Nicole Boice

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…

Genetic Testing Recommended for Undiagnosed Adults With Epilepsy

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…

Rare Disease Day Events Bring Awareness, Equity to Patients

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…

Epilepsy Foundation Hopes to Raise $1.75M in ‘Walks’ This Spring

The Epilepsy Foundation’s Walk to END EPILEPSY fundraiser series returns in person this spring, along with its 2.6-Million-Mile-Challenge. The “Walk” series opens in April with a goal of raising $1,750,000 to help improve the lives of the 3.4 million U.S. residents thought to live with epilepsy, including those…