Niemann-Pick Disease (NPD) includes a group of inherited diseases: Types A, B, and C. The name Niemann-Pick derives from two German pediatricians: Albert Niemann, the first doctor to identify the Type A form of the disease in 1914, and Ludwick Pick, who first identified the Type B form of the disease in 1927.
The following represents historical landmarks in research of Niemann-Pick disease, Type A and Type B.
The first case of Type A NPD is described by Niemann.
The accumulating material in NPD is described as a lipid.
Pick proposes that Type A is distinct from Gaucher disease.
The accumulating lipid in NPD is identified as sphingomyelin.
NPD in adults, Type B is described.
First comprehensive review of NPD is published.
Categorization of NPD into subtypes (Types A, B, and C) is proposed.
The enzyme deficiency in Type A is identified as acid sphingomyelinase (ASM).
The enzyme deficiency in Type B is identified as ASM.
Types A and B are shown to be distinct from Type C.
Highly purified preparations of human ASM are first obtained.
The first DNA sequence encoding human ASM is obtained.
Identification of the first DNA mutations causing Types A and B.
Chromosomal location of the human ASM gene is determined.
The human ASM gene is obtained.
The enzyme defect in Type A and Type B cells is corrected in the laboratory.
The mouse ASM gene is obtained.
Mouse models of Types A and B are constructed.
Collaboration is established between Mount Sinai and Genzyme to develop treatment for Types A and B.
Feasibility of enzyme replacement for Type B is documented in the NPD mouse model.