Mary Chapman,  features writer—

Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…

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,…

If you have late-onset Pompe disease (LOPD) and are employed, or are considering employment, you’re likely going to need some workplace adjustments, particularly as the disorder progresses. Here’s some information about how Pompe disease might affect your work life. What is Pompe disease? Pompe disease is a debilitating…

While the effects of late-onset Pompe disease on everyday life are far-reaching, there are steps you can take in your daily routine to help ease these difficulties and work around your limitations. It just takes some advance planning, a little bit of creativity, and perhaps some adaptive equipment.

If you have a chronic disease such as late-onset Pompe disease, a Japanese concept called shoshin may help you to perceive the world, and your disorder, in a different light. Based on Zen Buddhism, shoshin means “beginner’s mind.” What is Pompe disease? Pompe disease is a debilitating and…

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…