Redefining Disease, Genes and All

May 7, 2008 | Source: New York Times

Just as they once mapped the human genome, scientists are trying to map the “diseasome,” the collection of all diseases and the genes associated with them.

They are redefining how diseases are classified, by looking at their genetic underpinnings, not their symptoms or physiological measurements.

Seemingly dissimilar diseases are being lumped together, and what were thought to be single diseases are being split into separate ailments. For example, certain breast cancers are already being treated differently from others because of genetic markers like estrogen receptor and Her2, and because of more complicated patterns of genetic activity.

The number of genes associated with diseases is expanding rapidly because of “whole-genome” association studies, in which gene chips are used to look for differences between the genomes of people with a disease and those without.

To find new uses for existing drugs, Dr. Golub and colleagues at the Broad Institute have developed a “Connectivity Map,” which profiles drugs by the genes they activate.