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December 12, 2019December 12, 2019

Measuring Lyso-Gb1 Levels Could Provide Prenatal Diagnosis of Gaucher Disease, Study Suggests

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A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help diagnose Gaucher disease (GD) and distinguish between disease types, a study has found. The test ... Read more

December 11, 2019December 11, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 9, 2019December 9, 2019

Distinct Genetic Profiles in Single Family Illustrate Challenges to GD Diagnosis, Study Says

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Four distinct genetic profiles in Gaucher disease (GD) patients within a single family highlight the variability in disease severity and its difficult diagnosis, a study reports. The study, “Comprehensive clinical, ... Read more

December 5, 2019December 5, 2019

Gene Therapy Shows Promise for Treating Gaucher Disease, Mouse Study Reports

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A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of glucocerebrosidase, the altered enzyme in people with Gaucher disease, research shows. ... Read more

December 5, 2019December 5, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

November 25, 2019November 25, 2019

Study Finds Peripheral Nerve Damage Not to be Significant Feature of Gaucher Type 3

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Polyneuropathy — which refers to damage in peripheral nerves — is not a significant feature of Gaucher disease, particularly in people with the type 3 form, according to a ... Read more

November 21, 2019November 21, 2019

Myelodysplastic Syndrome Rare, But May Be Under-diagnosed in Gaucher Type 1 Patients, Study Suggests

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Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a ... Read more

November 18, 2019November 18, 2019

Long-term ERT Reduces Bleeding But Not Platelet Function Defects in Gaucher Disease, Study Suggests

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Although able to reduce bleeding, long-term enzyme replacement therapy (ERT) did not correct alterations in platelets and other clotting molecules in people with Gaucher disease (GD), a new study shows. ... Read more

November 14, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 11, 2019November 11, 2019

Gaucher Patients Want to Be Informed at Diagnosis of Parkinson’s Risk, Study Reports

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Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. ... Read more

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