ABSTRACT
Advances in human genetics and genomics have made it increasingly easy and rapid to identify genes involved in human diseases. Upon their identification, however, it often remains obscure how such genes function in normal biology and how defects in such genes lead to disease. About three-quarters of human genes have homologs in Caenorhabditis elegans, and recent technical advances in C. elegans gene knockout technology make it straightforward to delete any gene from the C. elegans genome. The power of C. elegans genetics and the detailed understanding of the biology of this organism can thus be used to rapidly leverage identification of a human disease gene into a detailed understanding of its homolog’s function in C. elegans. Recent examples of this approach show that biological processes are highly enough conserved from worms to humans that the understanding thus achieved in the worm can often yield deep insights into the functions of the original disease gene in humans. In this chapter, I discuss the prospects for using this approach as a general strategy to investigate gene function in human biology and disease.
