News

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,…

An experimental, non-invasive stem cell-based therapy led to improved motor function, prolonged lifespan, and reduced neurodegeneration in a mouse model of neuronopathic Gaucher disease (GD), a study shows. The study, “Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease,” was recently presented…

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…

Enzyme replacement therapy, either alone or combined with a bone loss prevention treatment, helps patients with Gaucher disease type 3 avoid bone thinning, a long-term study shows. The treatment was effective in both adults and children. It was the first study to show that bone loss prevention treatments known as…

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…

Medical professionals in several countries use a range of approaches to treat Gaucher disease (GD), and data from these strategies can help determine the impact of different treatment patterns on real-world outcomes, a recent study said. The findings were reported at WORLDSymposium 2018 in San Diego, California, in a poster titled…

Women receiving enzyme replacement therapy for Gaucher disease can continue taking it while pregnant with little risk of a miscarriage or a problem delivering their baby, a study suggests. Researchers reported the finding at the WORLDSymposium on lysosomal disease in San Diego, Feb. 5-9. The poster presentation, “…

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 new protein recently identified by researchers could be used in diagnosing patients with Gaucher disease or assessing how patients are responding to therapies, a study suggests. Chitinase-3-like 1 (CHI3L1), a protein considered a pro-inflammatory marker, was found in significantly higher levels in animal models and patients with Gaucher disease.