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Scientists Inch Closer to Genetic Blueprint of Diseases
Date:9/5/2012

By Amanda Gardner
HealthDay Reporter

WEDNESDAY, Sept. 5 (HealthDay News) -- Scientists' understanding of what causes human disease -- genetically speaking -- just got a bit clearer and infinitely more complicated all at the same time.

A study appearing online Sept. 5 in the journal Science provides a blueprint not only of genes that are involved in different disorders, but also of the "switches" that control those genes and how these two elements interact.

The "map" could substantially alter how scientists approach the genetics of diseases and, eventually, how treatments and cures are devised, the researchers said.

"This is a paradigm shift in terms of how we look at the genetic basis for disease," said study senior author Dr. John Stamatoyannopoulos, an associate professor in the departments of genome sciences and medicine at the University of Washington in Seattle. "I think it's going to change considerably how people use the genome to identify targets for pharmaceuticals."

Previous genetics research had focused mainly on finding a specific gene or gene variant for a particular disease, the conventional wisdom being that specific variants in that gene would affect protein sequences, and the altered protein sequences would determine if a person was healthy or if he or she developed a disease.

The problem is that many of these studies fingered regions of the human genome that don't actually contain genes, Stamatoyannopoulos explained. In fact, genes constitute only 2 percent of the human genome.

"Hidden in the remaining 98 percent are instructions that basically tell the genes how to switch on and off," he explained.

Stamatoyannopoulos and his colleagues analyzed 349 tissue samples from adults, and then cross-referenced the results with existing genetic data on more than 400 diseases and physical traits, such as height.

The result: a clearer picture of what's inside that mys
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