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Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Infection from the bacteria Propionibacterium acnes is found frequently and at high rates in the lymph nodes of sarcoidosis patients and may contribute to the formation of granulomas, a small study suggests. These results also provide another piece of evidence linking P. acnes bacteria to sarcoidosis. The study, “Propionibacterium acnes-derived insoluble immune…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Several mutations found in 37 genes were reported to be possible genetic risk factors for pediatric sarcoidosis, according to researchers. The report, “Whole exome sequencing in three families segregating a pediatric case of sarcoidosis,” was published in the journal…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Hospitalization due to sarcoidosis has increased in the U.S., but in-hospital mortality has declined, according to a study from the University of Alabama at Birmingham (UAB). The data also showed that more than 30 percent of the hospitalized sarcoidosis patients had one or more cardiovascular complications. The research, “…

Experts recently reviewed the latest advances in pulmonary sarcoidosis research, highlighting possible causes of the disease, as well as potential treatment candidates. The article, “The Pathogenesis of Pulmonary Sarcoidosis and Implications for Treatment,” was published in CHEST Journal. Sarcoidosis is common in the lungs, characterized…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

A small study of a group of patients in Canada who were showing the first signs of sarcoidosis suggests that isolated cardiac sarcoidosis, which refers to cardiac involvement without the disease clinically apparent elsewhere, may be rarer than previously reported. The study, “How common is isolated cardiac sarcoidosis? Extra-cardiac and…