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Genetic Breakthroughs— Their Implications for You and Your Health (Collection) by Greg Gibson, Haig H. Kazazian Jr., Moyra Smith, Nicholas Wright Gillham

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2. How genetic diseases arise

In 1902, Archibald Garrod (later Sir Archibald Garrod), a casualty physician at St. Bartholomew’s Hospital in London, published a paper of remarkable importance. It was titled “The Incidence of Alkaptoneuria: A Study in Chemical Individuality.”1 Garrod had long been interested in compounds that were excreted in the urine and especially in diseases that caused it to change color. Garrod had also struck up a friendship with the distinguished physiological chemist Frederick Gowland Hopkins at nearby Guy’s Hospital. They collaborated in the 1890s on several papers describing compounds present in urine.

Garrod first encountered patients with alkaptoneuria in 1897. The urine produced by persons having this disease turns ...

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