News

Using magnetic resonance imaging (MRI) to assess water- and fat-associated tissue changes may be used to identify and monitor bone damage in young people with Gaucher disease, researchers from Egypt suggest. The study, “Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of…

Most Filipino patients with Gaucher disease carry severe mutations in the GBA gene and exhibit Gaucher disease type 3, researchers from the Philippines found. The study, “Genetic and clinical characteristics of Filipino patients with Gaucher disease,” was published in the journal Molecular Genetics and Metabolism Reports. Gaucher disease…

Patients with Gaucher disease type 1 who never received treatment with enzyme replacement therapy died of septicemia — a blood infection — nine times more often than the general population, followed by liver disease, suicide or drug overdose, and cancer. Cancer, however, was the most common cause of death in these patients. The…

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 infiltration in patients with type I Gaucher disease treated with taliglucerase alfa,” were published in The…

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 study reports. The study, “Rapid intravenous infusion of velaglucerase‐alfa in adults with type 1 Gaucher…

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 of Gaucher disease type 2, a recent study shows. Led by researchers at University College London,…

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 (ERT) to treat the disease, a recent study suggests. The process could become a safer and less expensive way to…

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 report. For patients with this mutation, positron emission tomography/computed tomography (PET/CT) imaging scans may provide a clue to Gaucher…

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 a potential target for treating both conditions. The study, “…

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. Their study, “Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease,” was published in the journal…