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The dark matter of disease

Scientists are beginning to unravel how non-coding DNA works across long distances of the genome to influence disease

Hannah Waters
In the early 2000s, geneticist linkurl:Len Pennacchio;http://www.jgi.doe.gov/research/pennacchio.html was at the Lawrence Berkeley National Laboratory in California studying coronary artery disease (CAD) and was faced with a conundrum: Despite the fact that CAD was a known heritable disorder, he and his colleagues could not identify any gene that significantly contributed to CAD risk. "It's the number one killer in Western society, yet the genetic explanations have largely remained elusive," he said. But the completion of the Human Genome Project and the release of the first draft genome of Homo sapiens over a decade ago revealed a vast expanse of DNA that scientists hadn't yet begun searching for disease-related genes -- non-coding DNA, which is not transcribed into RNA or translated into a protein product. "The main surprise from the project is that only one percent of the genome is coding," said Pennacchio, now the head of the Joint Genome Institute's Genomics...

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