News

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…

Recovery for people with ocular sarcoidosis is more likely if anterior uveitis — inflammation in front of the eye — is evident at diagnosis and they are of Caucasian ethnicity, a long-term study in patients in Europe reports. But elevated intraocular pressure generally leads to poorer outcomes, its researchers wrote. They…

As part of a new agreement with AdVita Lifescience, Relief Therapeutics will acquire the intellectual rights for the specifications and potential applications of an inhaled formulation of RLF-100 (aviptadil). Relief has been collaborating with NeuroRx to advance the development of RLF-100 to treat patients with severe…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

A case study diagnosing pulmonary sarcoidosis in a patient complaining of chest pain and shortness of breath highlights the importance of including sarcoidosis in the differential diagnosis of chest pain. The study, “Sarcoidosis Presenting as Acute Respiratory Distress Syndrome,” was published in the journal Clinical Practice and…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Researchers in Japan reported a case of sarcoidosis associated with a specific bacterium and complicated by an acute bird-related — pigeons, in this case — inflammatory lung disease called hypersensitivity pneumonitis. A distinct type of granuloma specifically linked to the man’s bird-related disease was also, possibly for the…

Although uncommon, some people with cancer will develop granulomas, the clumps of immune cells that are a hallmark of sarcoidosis — and those who do are more likely to have better survival outcomes, a new study reports. The study, “Presence of concurrent sarcoid-like granulomas indicates better…