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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

May 23, 2019

Preclinical Data Has AVR-RD-02 Gene Therapy on Track for First Trial in Humans

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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 ... Read more

May 16, 2019

Gene Activity Profiling Reinforces Inflammation’s Role in Gaucher Disease

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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 ... Read more

May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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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 ... Read more

May 6, 2019

Gaucher Disease Leads to Eye Manifestations Needing Early Diagnosis, Treatment, Review Suggests

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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 ... Read more

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