Feature Channels: Personalized Medicine

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Researchers at Mount Sinai School of Medicine have made a critical discovery that may lead scientists to abandon the use of broad conventional ethnic labels—African-American, Hispanic, and Caucasian—to estimate a patient’s genetic risk for disease. This first-of-its kind study conducted with diverse patients receiving care at a single urban academic medical center, marks an important step in the clinical application of personalized medicine. The data are published online in the peer-reviewed journal PLoS ONE.

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Cancer survival rates could improve soon with whole-genome sequencing, according to two studies published in the April 20, 2011, issue of the Journal of the American Medical Association that describe the first clinical applications of the high-tech process in patients with cancer.

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Two new studies in the Journal of the American Medical Association highlight the power of sequencing cancer patients’ genomes as a diagnostic tool, helping doctors decide the best course of treatment and researchers identify new cancer susceptibility mutations that can be passed from parent to child.

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Jefferson researchers used gene signatures and energy metabolism to predict clinical outcome, rather than gene mutations.

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In one of the largest cancer genomics investigations reported to date, scientists have sequenced the whole genomes of tumors from 50 breast cancer patients and compared them to the matched DNA of the same patients’ healthy cells. This comparison allowed researchers to find mutations that only occurred in the cancer cells.

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In the single largest cancer genomics investigation reported to date, scientists have sequenced the whole genomes of tumors from 50 breast cancer patients and compared them to the matched DNA of the same patients’ healthy cells. They uncovered incredible complexity in the cancer genomes, but also got a glimpse of new routes toward personalized medicine.