News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Cerdelga (eliglustat) has a favorable long-term safety profile consistent with previous observations among patients with type 1 Gaucher disease, pooled data from four completed trials show. The findings of the study, “Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Non-motor symptoms associated with the eventual development of Parkinson’s disease are prevalent in Gaucher disease type 1 patients — people who already are at a higher risk for the neurodegenerative disorder, a study shows. Based on these findings, the researchers encourage people with Gaucher disease type 1 —…

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…