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A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Two Cerdelga (eliglustat) pills a day are slightly better than one pill a day of the same strength at helping Gaucher type 1 patients maintain a stable disease, a Phase 3 clinical trial shows. The therapy’s maker, Genzyme, conducted the trial, which involved only patients whose disease had…

Arimoclomol, an investigative therapy being developed by Orphazyme, increases glucocerebrosidase activity in cells from Gaucher patients, including those with neuropathic forms of the disease, a new study says. Glucocerebrosidase is a lysosomal enzyme that is often deficient in these patients. The proposed therapy, which boosts production of a family…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

Using non-invasive magnetic resonance elastography (MRE) to evaluate liver stiffness can help monitor disease severity and progression in Gaucher disease type 1 (GD1) patients. That finding was reported in the study “Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1…

Researchers seeking to better understand the links between changes in eye-movement patterns and the neurological status of Gaucher disease type 3 (GD3) hope their findings will lead to the identification of disease biomarkers for future clinical trials. The research, “Oculomotor and Vestibular Findings in Gaucher Disease Type…

The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease symptoms in two women with Gaucher disease type 1 (GD1), according to a case study. The study, “Combined miglustat and enzyme replacement therapy in two patients with…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Ambroxol — a chest congestion and cough medicine that’s being investigated for the treatment of Gaucher disease — has several molecular mechanisms in addition to acting as an enhancer of the enzyme that’s lacking in Gaucher patients. These mechanisms might also act to alter the disease course in patients with…

Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. A nursing diagnosis is a nurse’s…