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June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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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 ... Read more

June 24, 2019June 24, 2019

Cerdelga Has Favorable Long-term Safety Profile in Patients with Type 1 Gaucher Disease, Pooled Trial Data Show

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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 ... Read more

June 21, 2019June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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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, ... Read more

June 20, 2019

Non-motor Symptoms Preceding Parkinson’s Onset Prevalent in Gaucher Type 1, Study Finds

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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 ... Read more

June 17, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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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 ... Read more

June 13, 2019June 13, 2019

Gaucher Type 3C Evaluations Should Include Heart, Lungs, Researchers Say

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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 ... Read more

June 6, 2019

Case Report of Sisters with Gaucher Underscores Importance of Early Diagnosis

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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 ... Read more

June 3, 2019

MicroRNA Inactivation Fails to Reduce Inflammation, Increase Survival in Zebrafish Models of Gaucher

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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 ... Read more

May 30, 2019May 30, 2019

Saposin C Protein Key in Regulating Gaucher Disease Severity, Mouse Study Shows

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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 ... Read more

May 27, 2019May 24, 2019

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries

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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 ... Read more

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