News

Patients, Supporters Worldwide Recognizing Rare Disease Day 2020

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Study Identifies New Mechanisms of AADC Deficiency Mutations

Mutations discovered in the past five years that cause aromatic amino acid decarboxylase (AADC) deficiency affect the functioning of the AADC protein in previously unappreciated ways, namely promoting aggregation and preventing interactions among AADC protein pairs, a molecular study demonstrates. The new mechanisms identified in the study light the…

Gene Therapy Takes Center Stage at 2019 NORD Summit

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…