News

August 9, 2018

Elelyso Clears Disease Cells from Bone Marrow of GD Type 1, Study Reports

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The plant-based enzyme replacement therapy Elelyso (taliglucerase alfa) improves bone marrow response in adult patients with type 1 Gaucher disease, according to researchers. The findings of the study, “Improvement in bone marrow ... Read more

August 7, 2018

More Rapid Infusions of VPRIV Still Safe, Effective for Gaucher Type 1 Patients, Study Finds

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Shortening the duration of VPRIV (velaglucerase alfa) infusions from 60 to 10 minutes does not affect the safety or effectiveness of the enzyme replacement therapy in patients with Gaucher disease type 1, a ... Read more

August 2, 2018August 3, 2018

Prenatal Gene Therapy May Prevent Brain Damage in Gaucher Type 2, Mouse Study Suggests

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Prenatal delivery of a gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — prevented nerve cell death, and prolonged survival in a mouse model ... Read more

July 31, 2018

Genetically Modified Plant Roots May Be Better for Producing Key Enzyme in Gaucher Therapy, Study Shows

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The large-scale production of glucocerebrosidase — an enzyme that is lacking in Gaucher disease — by genetically modifying plant roots is seen as a viable strategy for enzyme replacement therapy ... Read more

July 24, 2018

New GBA Mutation Found, Linked to Gaucher Type 1 in Japanese Patient, Case Report Reveals

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A new mutation on the DNA coding sequence of the beta-glucocerebrosidase enzyme was identified and linked to Gaucher disease (GD) type 1 in a Japanese patient, according to a case ... Read more

July 17, 2018July 19, 2018

Computational Analysis Identifies Mutation That May Be Targeted in Gaucher, Parkinson’s Diseases

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A computational analysis added insight on the molecular effects of mutations linking Gaucher disease (GD) and susceptibility to Parkinson’s disease (PD). The study identifies one mutation that may serve as ... Read more

July 10, 2018

Excess Sphingolipids in Gaucher Disease Plays Important Role in Bone Disease, Study Finds

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An excess of sphingolipids — a hallmark of Gaucher disease — contributes to an imbalance in bone formation and degradation, leading to the development of bone disease, according to researchers. ... Read more

July 5, 2018

Similar Symptoms of Gaucher and Primary Myelofibrosis Can Result in Misdiagnosis, Case Report Shows

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The similar clinical and laboratory features of primary myelofibrosis (PMF) — a disease of the liver, blood, and bone marrow — and Gaucher disease may sometimes result in a misdiagnosis of the ... Read more

July 3, 2018

Gaucher Types Not Differentiated by Presence of Neurological Symptoms, Study Reports

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Patients with Gaucher disease type 1 (GD1) may exhibit neurological symptoms at a young age, requiring the use of genetic testing for diagnosing the specific disease type and developing a ... Read more

June 26, 2018

Improved Quantification Method May Help Better Assess Gaucher Biomarker, Researchers Say

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Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a diagnostic and treatment-response biomarker of Gaucher disease. The study, “A ... Read more