Gaucher's disease

American  

[goh-sheyz] / goʊˈʃeɪz /

noun

Pathology.

1. a rare inherited disorder of fat metabolism that causes spleen and liver enlargement, abnormal fragility and pain of the bones, and progressive neurologic disturbances, leading to early death.

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Etymology

Origin of Gaucher's disease

After Philippe C. Ernest Gaucher (1854–1918), French physician, who described it

Example Sentences

The mouse study, published on 16 July in Nature Medicine1, uses prenatal gene therapy to tackle a condition — acute neuronopathic Gaucher's disease — caused by mutations in a gene called GBA.

From Nature • Jul. 15, 2018

Isofagomine tartrate, for instance, was initially intended to treat Gaucher's disease, a rare genetic disorder, but it stalled after a failed clinical trial in 2009.

From Nature • Oct. 10, 2017

The Aberdeen South MP, who was born with Gaucher's disease, a rare genetic condition which causes regular bone breakages, has chaired the All Party Group on Equalities and the All Party Group on Chronic Pain.

From BBC • Dec. 31, 2010

The 55-year-old from Angus was born with Gaucher's disease, a rare genetic condition which causes regular bone breakages, and has used a wheelchair since 1984.

From BBC • Dec. 31, 2010

The story of Ceredase starts with government-sponsored scientists who in 1965 found that Gaucher's disease resulted from the lack of an enzyme.

From Time Magazine Archive