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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Some patients with Gaucher disease type 3c may develop non-calcified lesions in their coronary arteries, as well as tissue scarring affecting the lungs, a report of new cases and a literature review show. Although these cardiac and pulmonary manifestations could be rare, they may represent an important cause of…

Gaucher disease may have very distinct manifestations, even among genetically similar people with the same mutation in the GBA gene. Early diagnosis and treatment are key to avoid severe consequences of the condition, a case report suggests. The study, “Two siblings with Gaucher type 3c: different…

Despite its well-known role in inflammation, the microRNA molecule known as miR-155 does not seem to be a promising target for the treatment of Gaucher disease, as its inactivation failed to counteract the shorter lifespan and robust inflammatory state seen in zebrafish models of the condition, a study reports.

Lack of a functional protein called saposin C protein and different mutations affecting its coding gene can significantly affect the severity of Gaucher disease symptoms, a study in mice shows. The study, “Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Avrobio presented updated preclinical data for AVR-RD-02, its gene therapy candidate for Gaucher disease, and announced its plans to begin the first clinical studies in patients with type 1 disease in the second half of 2019. The new data were shared at this year’s annual meeting…

Gene activity profiles of cells from Gaucher disease patients confirm the idea that inflammation plays an important role in the disease’s development, a study reports. Researchers argue that the new insights favor looking to anti-inflammatory agents when seeking new therapies for…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Manifestations in the eye are rare symptoms of Gaucher disease that can affect patients with all disease subtypes, a review study suggests. These symptoms should be diagnosed and treated early to avoid complications, including loss of sight. The study, “Ophthalmic manifestations of Gaucher disease: the most common lysosomal…