News

Having an ultrasound of the neck may be useful for diagnosing certain cases of sarcoidosis — and for ruling out other similar conditions, a new study highlights. In fact, statistical models based on ultrasound measures used in the study were shown to accurately identify 90% of patients with and…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

aTyr Pharma has received positive feedback from the U.S. Food and Drug Administration (FDA) in a meeting to discuss the regulatory development of its lead candidate, efzofitimod (ATYR1923), for the treatment of pulmonary sarcoidosis. After a review of data provided by aTyr, including results from a recently completed…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

The Foundation for Sarcoidosis Research (FSR) is now accepting applications for fellowships supporting early career clinicians and researchers focused on sarcoidosis. The deadline is March 15, the foundation announced. The two-year grants will provide a total of $150,000 to selected fellows, with…

Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

The risks of death and rejection after heart transplant for people with advanced cardiac sarcoidosis were similar to those of patients who had transplants for other types of heart disease, according to an analysis of a transplant recipient registry. These findings suggest that a heart transplant is a safe…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.