Completion of the entire sequence of the human genome is having a profound
effect on the strategies biological scientists use to identify disease-asso
ciated genes. Laborious positional cloning approaches and traditional funct
ional studies are gradually being transformed by emerging genomic and prote
omic databases. Some of the exciting challenges investigators now face are
the identification of new genes, determining the function of these genes, d
efining disease associations, and elucidating correlation between genotype
and phenotype. To demonstrate how investigative methods for single-gene dis
orders are changing, we illustrate one possible approach in the search for
the gene underlying the autosomal recessive genodermatosis, acrodermatitis
enteropathica.