News

January 10, 2019

Case Report Describes First Patient with Both Gaucher Disease, Severe Congenital Neutropenia

News

A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported case ... Read more

January 8, 2019

Study Shows Feasibility of Screening High-risk Gaucher Patients

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A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in general ... Read more

January 3, 2019

Arimoclomol Restores Glucocerebrosidase Activity, Localization in Gaucher Disease

News

The small molecule arimoclomol — which is already in Phase 2/3 clinical testing — improves the folding and maturation of abnormal glucocerebrosidase across multiple cell models of Gaucher disease, including neuronopathic ones, ... Read more

December 21, 2018December 21, 2018

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat ... Read more

December 18, 2018

D409H Mutation in GBA Gene Linked to Calcification in Heart, Case Report Shows

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Gaucher disease patients harboring a D409H mutation in the GBA gene show calcification — deposits of calcium salts — in the heart vessels, increasing their risk of cardiac problems, according to ... Read more

December 11, 2018

Case of Chinese Adolescent with Gaucher Disease Highlights Importance of Early Diagnosis, Treatment

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Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests. The case was ... Read more

December 6, 2018

Enlarged Spleen, Anemia and Family History Among Factors Indicative of Diagnosis, Study Reports

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Signs such as anemia or enlarged liver and spleen, and characteristics such as family history of Gaucher disease (GD) should lead clinicians to consider a GD diagnosis, according to a ... Read more

November 26, 2018

International Gaucher Alliance Created to Advocate for Patients’ Needs, Including Better Diagnosis and Care

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Delegates from 48 countries have established the International Gaucher Alliance (IGA) with the goal of working toward “a world where all Gaucher disease patients have access to the treatment and care ... Read more

November 20, 2018

New GBA Mutation Causing Gaucher Type 3 with Progressive Epilepsy Described in Case Report

News

A newly identified mutation in the GBA gene causes errors in gene processing that trigger the development of Gaucher disease type 3 with progressive myoclonus epilepsy, a case report describes. The study, ... Read more

November 13, 2018

Two New Mutations Linked to Gaucher Type 1 Identified in Indian Study

News

Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first time, the estimated carrier frequency of ... Read more