Larry Luxner,  —

Over the next 20 years, the number of Americans with spinal muscular atrophy (SMA) will rise from 10,000 to nearly 15,000 — and 8,000 of those living with SMA today will still be alive come 2038, predicts Kenneth Hobby, president of Cure SMA. The Chicago-based nonprofit has been working…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH) —…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Gyula Acsadi is an expert in three of the world’s most expensive rare illnesses to treat: spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and Pompe disease. Acsadi, head of neurology and rehabilitation at Connecticut Children’s Medical Center in Hartford, said he’s convinced that new therapies for these…

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, “Rare…

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…

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…

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…