Dissecting Human Disease in the Postgenomic Era

How the human genome sequence and the completed genome sequences of other organisms will expand the authors' understanding of human diseases, both those caused by mutations in a single gene and those where many genes and multiple factors are involved is discussed.

Abstract

The genomics era has provided great opportunities for deciphering the genes that are mutated in human diseases. In their Future Directions9 article, Peltonen and McKusick discuss how the human genome sequence and the completed genome sequences of other organisms will expand our understanding of human diseases, both those caused by mutations in a single gene and those where many genes and multiple factors are involved. From SNP maps to individual drug response profiling, the human genome sequence will lead to improved diagnostic testing for disease susceptibility genes and individually tailored treatment regimens for those who have already developed disease symptoms.