Search Results for: Gaucher disease

September 9, 2019

Stem Cell Injections May Treat Gaucher Disease with Brain Involvement, Mouse Study Finds

News

Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease with neuronal symptoms, a proof-of-concept study reports. The study, “Intravenous infusion ... Read more

August 19, 2019

New GBA Mutation May Be Linked to Perinatal Lethal Gaucher Disease, Case Report Suggests

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A new mutation, H413P, that may be associated with severe symptoms was discovered in a Chinese baby with perinatal lethal Gaucher disease, a case report suggests. The report, “A Neonatal ... Read more

June 27, 2019

Experts Identify Early Signs and Factors of Gaucher Disease to Help Reduce Diagnostic Delays

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The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis and management — has identified several clinical signs and factors ... 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 the ... 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 shows. ... 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 new ... Read more

What is Gaucher Disease?

Gaucher disease is a serious, heritable disorder that can affect many organs and tissues. The signs and symptoms of the disease vary widely among affected individuals, and several types of ... Read more

Types of Gaucher Disease

Gaucher disease is an inherited condition in which a fat molecule called glucocerebroside accumulates in different organs and tissues in the body. The disease is caused by mutations in the ... Read more

Type 3 Gaucher Disease

Gaucher disease is characterized by the accumulation of a glycolipid or fatty compound called beta-glucocerebroside, which is a key component of all cell membranes, in different organs and tissues in ... Read more

Type 2 Gaucher Disease

Gaucher disease is a rare, heritable lysosomal storage disorder caused by mutations in a gene called GBA. This gene encodes for a digestive enzyme active in lysosomes, cell structures that ... Read more