More than 200 scientists working on an ambitious federal project have begun to understand the complicated system of switches that regulates genes, turning some on and others off, making some glow brightly while others dim. They hope these discoveries, described in two dozen papers released on Wednesday, will eventually lead to a deeper understanding of diseases and new ways to treat or cure them.
The expectation is that by uncovering the switches and genes they control, scientists can add depth to genetic findings like those from a schizophrenia study published last summer. Researchers identified 108 scattered genes associated with the mental illness, but could not explain how they were related to one another or worked in the brain. An understanding of the circuits that control these genes may give them the clues they need, the researchers said.
“How does this conspiracy of genes work?” asked Eric Lander, director of the Broad Institute, a genetic research center affiliated with Harvard and M.I.T., who is not an author of the new papers. “This begins to connect the dots.”
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In cancer, the disease may start with what Dr. John Stamatoyannopoulos of the University of Washington, one of the authors, called “a big bang of mutations” specific to a particular type of cell. That may help doctors figure out a mysterious sort of cancer, in which patients arrive with tumors all over the body but no one knows where the cancer started, making it difficult to find the best treatment. By looking at which switches are active they hope to figure out the tissue of origin.
But while the researchers are confident that their discoveries will be revelatory, they also see a long road ahead. They will find circuits, another author, Anshul Kundaje, an assistant professor of genetics at Stanford said, But, he added: “Making sense of them is a whole different story.”
