Mary Chapman,  features writer—

Supporters globally are gearing up for International Ataxia Awareness Day, observed annually on Sept. 25 to raise the profile of a group of progressive neurological disorders that includes Friedreich’s ataxia (FA). Patients, caregivers, and supporters will share stories on social media, advocate on behalf of the ataxia community,…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Events are underway globally to mark Friedreich’s Ataxia Awareness Month, observed each May, to heighten awareness about the neuromuscular disease and those it affects. Awareness Day is May 15. Patients, caregivers, and advocates worldwide will flex their muscles, sport temporary tattoos, and participate in research presentations — all in the…

Real-life stories from people affected by Friedreich’s ataxia (FA) — featured in a new educational resource —capture the challenges of living with a complex and largely misunderstood disorder, and help to pinpoint areas of improvement needed in disease diagnosis and management. Called “Open Door,” this series of booklets was…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. 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…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…