News

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…

People with sarcoidosis-associated pulmonary hypertension who have reduced physical fitness or worse gas exchange capacity live significantly shorter times without requiring a transplant, a new study indicates. The study, “Physiological Predictors of Survival in Patients with Sarcoidosis Associated Pulmonary Hypertension,” was published in the European Respiratory…

People living with or affected by sarcoidosis are invited to apply for membership in the new patient advisory committee being established by the Foundation for Sarcoidosis Research, known as the FSR. The committee is being created to help establish an advisory board to further bring patients’ voices…

Severe fatigue affects more than 60% of pulmonary sarcoidosis patients and is associated with worse shortness of breath, daytime sleepiness, anxiety and depression, catastrophizing, functional impairments, and quality of life, according to a Dutch study. The research also showed similar findings for people with idiopathic pulmonary fibrosis (IPF),…

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…

Sarcoidosis patients who more closely follow their established treatment plans were found to have a significantly improved health-related quality of life, a new observational study shows. The study, “Association of Medication Adherence and Clinical Outcomes in Sarcoidosis,” which was published in the journal Chest, is…

Sarcoidosis affecting the spinal cord tends to result in distinct patterns visible on MRIs of the spine, which may help in properly diagnosing this disease type, a new study reports. The study, “Clinical and MRI phenotypes of sarcoidosis-associated myelopathy,” was published in the journal Neurology Neuroimmunology…

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.

ATYR1923, a candidate therapy for pulmonary sarcoidosis, binds specifically to the neuropilin-2 (NRP2) receptor protein, which is located at the surface of immune cells responsible for inflammation and granuloma formation in lung sarcoidosis, the treatment’s developer, aTyr Pharma, has announced. These findings are described in two posters,…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…