Author Archives: Mary Chapman

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,…

Activities are afoot to mark Porphyria Awareness Week — taking place April 10–17 this year — set aside annually to call attention to this group of inherited disorders that affect an estimated 1 in 500 to 1 in 50,000 individuals globally. Supporters are encouraged to engage in Zoom sessions and…

A portrait of Morgan McKillop, a pre-teen who has erythropoietic protoporphyria (EPP) and is an active member of the American Porphyria Foundation (APF), has been chosen to be a part of an art gallery of faces representing rare diseases. McKillop’s image, which is done in muted tones 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…

Living with a rare and chronic disease such as porphyria, with its multitude of symptoms, can make it hard to stay motivated. Here are some tips that may inspire you to keep going on those days when motivation is hard to come by. Ask for support Sometimes, daily life…

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…

If you or a family member has a rare disease such as porphyria, it may help to plug into health advocacy efforts. These generally promote health and access to care at individual and community levels. Here is more information about advocacy and ways in which it could help you. About…

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…