A collaborative study assembled by ENCODE research has aided scientists in understanding why a combination of DNA variants may increase the likelihood of a specific disease. According to genome scientist Dr. John Stamatoyannopoulos of the University of Washington, some diseases seem to assemble in groups. The study found that variants generally found in people with Crohn’s disease appear to control elements important in immune cells, which are known to be included in the disease. Dr. Bradley Bernstein of Harvard Medical School, who was not part of the project explained how important these new findings are – “now that we have the switches, we can start to understand why a combination of DNA variants might increase the chances of a particular disease – we can see which switch is malfunctioning and why.” Bernstein added that the research is still incomplete – “we know the working parts, but we don’t know how they fit together.”

While this new research is exciting, it may be difficult for non-scientists to understand the technical aspects of it. Eric Schadt, a computational biologist at the Mount Sinai School of Medicine in New York said the hope is that this new information can one day help scientists understand how networks of genes and gene regulators work together to drive biology – and how failures in the system can cause disease.  He likened understanding genome function to watching a movie.  The sounds and context, and how individual images change over time are all important in telling the story.  Likewise, the “image” projected by the human genome is a snapshot of human biology that needs context to be understood….. Los Angeles Times   9/11/12

 

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