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The Philadelphia Chromosome, circa 1960

By Cristina Luiggi The Philadelphia Chromosome, circa 1960 Related Articles New Smoking Gun? Cancer Genetics Gets Personal New Medicine Means Research RethinkLess than a decade after Watson and Crick published their landmark paper on the structure of DNA, two Philadelphia researchers noticed that the blood cells of patients with chronic myelogenous leukemia (CML) had an unusually tiny chromosome. At a time when the genetic underpinnings of disease were unc

Written byCristina Luiggi
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New Smoking Gun?

Cancer Genetics
Gets Personal

New Medicine Means Research Rethink

Less than a decade after Watson and Crick published their landmark paper on the structure of DNA, two Philadelphia researchers noticed that the blood cells of patients with chronic myelogenous leukemia (CML) had an unusually tiny chromosome. At a time when the genetic underpinnings of disease were unclear, the discovery of this abnormality—dubbed the Philadelphia Chromosome—marked the first time a specific genetic defect was linked to a cancer, paving the way for drugs that targeted the defect and turned this rare leukemia into a manageable disease.

1 - In 1956, Peter Nowell joined the University of Pennsylvania faculty and began what he calls “poorly defined studies of leukemia.” By rinsing blood cells with tap water before staining and mounting them on a microscope slide, Nowell inadvertently caused the cells to swell and flatten, and most importantly, disrupted their ...

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