Forest Ray PhD,  —

Pediatric-onset sarcoidosis may require long-term treatment, and can be associated with severe consequences in adulthood, according to a French study. Of 52 adults with sarcoidosis as children, half were still being treated and four had uncontrolled disease, its researchers reported. The study, “Child–Adult Transition in Sarcoidosis: A…

New diagnostic guidelines for cardiac sarcoidosis yield a higher number of diagnoses and identify more cases of isolated cardiac sarcoidosis (iCS), according to a study in Japan. In cardiac sarcoidosis, inflammatory clusters of white blood cells — called granulomas — affect the heart but can also affect other…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

An enzyme called chitotriosidase appears to be a reliable biomarker of sarcoidosis, a study suggests. The activity of this enzyme is correlated with sarcoidosis disease activity, severity, dissemination throughout the body, and may reflect the number of active granulomas within a given patient.