In the new era of personalized medicine, physicians hope to provide earlier diagnoses and improve therapy by evaluating patients' genetic blueprints. But, as a new bioinformatics study emphasizes, the first step must be to correctly decipher the deluge of information locked in our DNA and determine its impact on human health.
In the September issue of Genome Research, Dr. Sudhir Kumar led a team of researchers at the Biodesign Institute at Arizona State University in examining DNA mutations from both healthy and diseased patients. Their work evaluates the reliability of computer models aimed at predicting the eventual effect of such mutations.
Along with Kumar, director of the Biodesign Institute's Center for Evolutionary Functional Genomics, others involved with the study were co-authors Michael P. Suleski, Glenn J. Markov, Simon Lawrence, Antonio Marco and Alan J. Filipski.
Kumar's team focused on single DNA mutationschanges to a person's genome that can sometimes make the difference between robust health and debilitating illness. The current study focused on one specific type of DNA mutationa single change at a given location along the length of DNAthat alters the resulting protein. These protein changes are the source of much of our individuality, coding for differences such as eye and hair color. Scientists have discovered that each person's genome contains thousands of such protein changes. Other single mutations, however, are linked with severe illnesses like cystic fibrosis.
While experimentation on the enormous number of mutations across human populations is impractical due to volume and cost, Mother Nature, as Kumar points out, has already done an experiment for us, presenting scientists with a set of benign mutations for each protein. The branch of science known as comparative genomics takes advantage of the genetic information collected from the diversity of life on Earth.
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|Contact: Joe Caspermeyer|
Arizona State University