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| Scientists are beginning to analyze the DNA differences between modern humans and our extinct archaic relatives, the Denisovans (NHGRI/latimes.com) |
In the decade since the human genome was published, scientists have been frustrated by their inability to figure out exactly how variations in genes promote disease.
But the information assembled by ENCODE research -- which shows that regions of the genome once thought to be junk are actually stuffed with DNA “switches” that help direct genes in their work -- may help change that, scientists involved with the collaboration said Wednesday.
“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,” said Harvard Medical School and Broad Institute pathologist Dr. Bradley Bernstein.
Past efforts to figure out the puzzle of how DNA in the genome caused disease had focused on hundreds of genome-wide association studies, which screened genomes of people with particular medical conditions to determine DNA variants linked to those diseases, said University of Washington genome scientist Dr. John Stamatoyannopoulos, lead author of a study examining the connection between gene regulation and disease published Wednesday in the journal Science. More
A massive examination of the human genome has revealed that our DNA is jam-packed with “switches” that regulate the actions of genes -- turning them on, turning them off, et cetera. The volume of information produced from the effort (called ENCODE) was huge...
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