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jan 1, 1902 - 1902: Sir Archibald Edward Garrod is the first to associate Mendel's theories with a human disease

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In 1902, Sir Archibald Edward Garrod became the first person to associate Mendel's theories with human disease. Garrod had studied medicine at Oxford University before following in his father's footsteps and becoming a physician.

Whilst studying the human disorder alkaptonuria, he collected family history information from his patients. Through discussions with Mendelian advocate William Bateson, he concluded that alkaptonuria was a recessive disorder and, in 1902, he published The Incidence of Alkaptonuria: A Study in Chemical Individuality. This was the first published account of recessive inheritance in humans.

It was also the first time that a genetic disorder had been attributed to "inborn errors of metabolism", which referred to his belief that certain diseases were the result of errors or missing steps in the body's chemical pathways. These discoveries were some of the first milestones in scientists developing an understanding of the molecular basis of inheritance.

Added to timeline:

28 Jul 2022
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Date:

jan 1, 1902
Now
~ 124 years ago