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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

A literature review of research performed in specific populations from countries worldwide estimated a heritability of 60 to 70 percent for familial sarcoidosis, a study has found. The study titled “Clinical epidemiology of familial sarcoidosis: A systematic literature review” was published in the journal Respiratory Medicine. While the…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

A case study diagnosing sarcoidosis upon autopsy in a patient with acute respiratory distress syndrome (ARDS) of unknown cause highlights the importance of physicians taking into account this uncommon disease association for quicker diagnosis and treatment. The study, “Sarcoidosis Presenting as Acute Respiratory Distress Syndrome,” was…

The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…

Deaths attributed to sarcoidosis as the primary underlying cause increased between 1999 and 2016 in the United States, according to a recent observational study. The study, “Sarcoidosis deaths in the United States: 1999–2016,” published in the journal Respiratory Medicine, compared death rates among different regions, races, genders, and…

Two cardiologists in the Netherlands are using an artificial intelligence (AI) tool called the VMS Heart Analysis System, developed by Ventripoint Diagnostics, for the early diagnosis of pulmonary hypertension in sarcoidosis patients. With this tool, Marco Post, MD, PhD, and Marloes Huitema, MD, at the St. Antonius…

A research team at Yale School of Medicine successfully treated a person with disfiguring sarcoidosis with Xeljanz (tofacitinib) — an existing approved treatment against rheumatoid arthritis — resulting in a near-complete disappearance of skin lesions. The findings were published in the New England Journal of Medicine in an…