Redefining Disease, Genes and All - New York Times

Redefining Disease, Genes and All - New York Times -...

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Redefining Disease, Genes and All - New York Times .. 1 of 4 5/7/08 3:47 PM May 6, 2008 Redefining Disease, Genes and All By ANDREW POLLACK Duchenne muscular dystrophy may not seem to have much in common with heart attacks. One is a rare inherited disease that primarily strikes boys. The other is a common cause of death in both men and women. To Atul J. Butte, they are surprisingly similar. Dr. Butte, an assistant professor of medicine at Stanford, is among a growing band of researchers trying to redefine how diseases are classified — by looking not at their symptoms or physiological measurements, but at their genetic underpinnings. It turns out that a similar set of genes is active in boys with Duchenne and adults who have heart attacks. The research is already starting to change nosology, as the field of disease classification is known. Seemingly dissimilar diseases are being lumped together. What were thought to be single diseases are being split into separate ailments. Just as they once mapped the human genome, scientists are trying to map the “diseasome,” the collection of all diseases and the genes associated with them. “We are now in a unique position in the history of medicine to define human disease precisely, uniquely and unequivocally,” three scientists wrote of the new approach last year in the journal Molecular Systems Biology. Such research aims to do more than just satisfy some basic intellectual urge to organize and categorize. It also promises to improve treatments and public health. Scientists are finding that two tumors that arise in the same part of the body and look the same on a pathologist’s slide might be quite different in terms of what is occurring at the gene and protein level. Certain breast cancers are already being treated differently from others because of genetic markers like estrogen receptor and Her2, and also more complicated patterns of genetic activity. “In the not too distant future, we will think about these diseases based on the molecular pathways that are aberrant, rather than the anatomical origin of the tumor ,” said Dr. Todd Golub, director of the cancer program at the Broad Institute in Cambridge, Mass. The reclassification may also help find drugs. “There are 40 drugs to treat heart attacks, but none to treat muscular dystrophy ,” Dr. Butte said. If the diseases are similar in some molecular pathways, perhaps the heart attack drugs should be tested against muscular dystrophy. Dr. Golub and colleagues at the Broad Institute have developed a “Connectivity Map,” which profiles drugs by the genes they activate as a way to find new uses for existing drugs. The research will also improve understanding of the causes of disease and of the functions of particular genes. For
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This note was uploaded on 07/08/2009 for the course LIFESCI ls 4 taught by Professor Merriam during the Winter '08 term at UCLA.

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Redefining Disease, Genes and All - New York Times -...

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