News

#RAREis Representation Program Promotes Equity, Diversity

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…

AR101 Named Orphan Drug in Europe With Trial Set to Start Mid-year

The European Commission has granted an orphan drug designation to Aytu BioPharma’s AR101 (enzastaurin), an oral therapy candidate for Ehlers-Danlos syndrome (EDS), including the severe subtype vascular EDS (vEDS). The commission’s decision follows a positive recommendation by the Committee for Orphan Medicinal Products, an arm of the European…

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 Clues In on EDS Type for 3 Patients in China

A genetic testing technique called whole-exome sequencing (WES) revealed potentially disease-causing mutations in three people with Ehlers-Danlos syndrome (EDS) —  and provided evidence for the patients’ disease type — in a recent study. An accurate diagnosis of a patient’s EDS type is important for appropriate…

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…

Extensive Rehab Allows Teen With hEDS, Feeding Issues to Forgo GJ Tube

Extensive rehabilitation therapy given by a multidisciplinary team allowed a teenager with digestive problems due to hypermobile Ehlers-Danlos syndrome (hEDS) to forgo surgical feeding tube placement and still gain weight, a case study reports. “We believe that the combination of patient motivation, multidisciplinary intervention, and medication optimization led to successful…