Achondrogenesis Type 1A — From Mouse to Human

Abstract

In this issue of the Journal, Smits et al.1 describe how they identified the cause of a rare human skeletal dysplasia, achondrogenesis type 1A. In so doing, they have provided an excellent example of the interdependence between clinical medicine and basic science.One approach to better understanding rare neonatal lethal disorders is to genetically alter a model organism, such as the mouse. Genetic analysis can be done in forward or reverse directions. Reverse genetics involves mutating a specific gene and analyzing the resultant phenotype. Target genes are carefully chosen based on accumulated scientific information and the investigators' training, hypotheses, and . . .