Diagnosis in the 21st Century

Diagnosis in the 21st Century

Back in 1995, a man died tragically when he was only 42 years old. The official diagnosis was liver failure from alcoholic cirrhosis. No autopsy was done. The body was cremated. No clues remained. End of story. Or was it?

The July 7, 2001 issue of The Lancet chronicles a story of deductive reasoning, genetic medicine, and international cooperation. A physician relative of the deceased kept wondering if the death might have been not due to alcohol but instead from a rare genetic disorder.

The only remaining clue was tiny bits of his skin left in an old electric shaver. These were sent to Semmelweis University in Budapest, Hungary. The genes were analyzed by means of polymerase chain reaction (PCR) amplification in the US.

The result?

The unfortunate man was found to have undiagnosed Wilson disease. This rare genetic condition causes the relentless build-up of copper in the liver, leading to liver failure and brain damage. Effective treatments are available, but Wilson disease is fatal if untreated.

The family learned that alcoholic cirrhosis was not the cause of death. They also learned that his two children (and his father) are carriers of the rare recessive condition. What powerful information was gleaned from nearly-forgotten traces of DNA in that old electric shaver!

If you save a precious lock of your child’s hair, or those tiny baby teeth, or the remnants of her umbilical cord, your memento may prove to have more than just sentimental value as we move through the 21st century.

Dr. Alan Greene

Dr. Greene is a practicing physician, author, national and international TEDx speaker, and global health advocate. He is a graduate of Princeton University and University of California San Francisco.

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