Gaucher's disease

[ goh-sheyz ]

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.

Word History and Origins

Origin of Gaucher's disease¹

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

Example Sentences

The researchers then showed that their AAV could deliver copies of the GBA1 gene, which has been linked to Gaucher's disease, Lewy body dementia, and Parkinson's disease, to a large fraction of cells throughout the brain.

From Science Daily

Acute neuronopathic Gaucher’s disease is one of the best candidates for treatment with prenatal gene therapy.

From Nature

The mice model a condition in humans called acute neuronopathic Gaucher’s disease.

From Nature

Waddington decided to look for a more challenging target disease that causes more severe effects earlier on, which led him to Gaucher’s disease.

From Nature

Some diseases — such as neuronopathic Gaucher's disease and spinal muscular atrophy — can cause irreversible symptoms before birth.

From Nature