History of Gaucher Disease

In 1882, Phillipe Gaucher, a French physician, first described the clinical disorder that now bears his name. His astute medical thesis describing a 32-year-old woman with a remarkably enlarged spleen ("splenomegaly") and the hallmark large, peculiar cells present within it stimulated interest in the medical community. The eponym "Gaucher Disease" was introduced by Nathan Brill, the Mount Sinai pathologist who first suggested the familial nature of the disorder and was the first to diagnose a case during life. Along with his Mount Sinai colleagues, Drs. Mandelbaum and Libman, Nathan Brill extensively described the anatomic and morphologic pathology of the disease. Throughout the century following its discovery, the scientific and medical communities have continued to advance our understanding of the clinical and pathologic findings, metabolic disorder, familial transmission, and genetic defect of the disease. Based on these studies, diagnosis and treatment of Gaucher disease are possible and represent a cornerstone in the era of molecular medicine.