Glucocerebrosidase
Gaucher disease pronunciation...
The history of a disease can be tricky to pinpoint. An individual disease makes people ill long before the disease itself has an identity or name.
Gaucher's disease pathology outlinesArchaeologists found evidence of cancer in ancient Egyptians, though cancer didn’t get its name until 1,000 years after the ancient Egyptians.
When Was Gaucher Disease Discovered?
So it’s probably impossible to know who the first person to have Gaucher disease was.
But we can trace the history of the condition all the way back to the 1880s, when Gaucher disease was discovered.
Who Discovered Gaucher Disease?
Answering “what is the history of Gaucher disease” means answering three questions: what, how, and why.
Philippe Gaucher, a French doctor, answered the “what” in 1882.
Dr. Gaucher was puzzled by a patient who had an enlarged spleen.
Gaucher disease cause
He thought the patient died of leukemia. However, during the autopsy, he discovered that the spleen wasn’t just engorged—the organ itself had enlarged cells. Those enlarged cells are n