Gaucher disease (1882-1982): Centennial perspectives on the most prevalent Jewish genetic disease

On the one hundredth anniversary of Gaucher's original description, the major advances in the delineation and understanding of this inherited metabolic disease are reviewed. In particular, the contributions of the early Mount Sinai investigators are highlighted. Current research efforts are directed to elucidate the molecular genetic pathology and to develop efficacious therapy. The major obstacles to these goals are discussed.