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 of both diseases occurring in a patient at the same time. The study, “Coexistence of Gaucher Disease…
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 hematology clinics. The study, “Gaucher disease screening at a general adult hematology tertiary care centre: A prospective…
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, which have no approved treatments available, a study shows. The study, “The heat shock protein amplifier…
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 rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
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 a case report. These patients should undergo an annual heart examination to detect potential problems sooner. The study, “Aortic…
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 described in the study, “Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease:…
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 new study. The findings also revealed that lack of awareness is a major obstacle for timely diagnosis. The research, “…
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 they need — and the possibility of a cure.” Meeting Oct. 15-17 in the Latvian capital of Riga,…
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, “Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss…
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 the most common Gaucher-causative mutation in the general Indian population. The study, “Biochemical and molecular characterization…