News

Blood levels of a microRNA called miR-150-5p have been identified as a potential biomarker for AChR-positive myasthenia gravis, after surgical treatment was found to reduce its levels in a study. The study, “Thymectomy lowers the myasthenia gravis biomarker miR-150-5p,” was published in the journal Neurology…

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,…

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…

Quality of life among myasthenia gravis (MG) patients is worse in women than men, but removing the thymus in women eliminates this disparity, a recent study shows. The study, “Gender and Quality of Life in Myasthenia Gravis Patients from the Myasthenia Gravis Foundation of America Registry,” appeared…

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…

Using robotic-assisted surgery to remove the thymus without putting a patient on an  immunosuppressant afterwards leads to higher myasthenia gravis (MG) improvement and remission rates, a study suggests. The study, “Independent long-term result of robotic thymectomy for myasthenia gravis, a single center experience” was published in the Journal of Thoracic…

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…

Ra Pharmaceuticals, which is now enrolling patients with generalized myasthenia gravis into a Phase 2 clinical trial, joined millions of health care advocates worldwide for the 11th annual Rare Disease Day, held to raise awareness and public understanding of rare diseases. The 2018 Rare Disease Day had as a…

People with refractory myasthenia gravis are at a higher risk of myasthenic crises and of being hospitalized compared to non-refractory patients, researchers report. Results reveal an increased disease burden in people with refractory myasthenia gravis, emphasizing the need for prevention and development of new treatment options for…

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…