Diagnosis in the 21st Century

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.