I enjoyed reading the article by Heron et al. (2010) in ABT last September. On page 424, the authors state that "Sickle cell disease was the first disease to be recognized as having a genetic basis, and thus linked phenotype to genotype (Weatherall & Clegg, 2001)." But according to Darnell et al. (1990: p. 9), the first relation between a genetic defect and a biochemical abnormality was reported in the study of the human disease alkaptonuria by Archibald Garrod in his book Inborn Errors of Metabolism (1909). However, according to Sutton (1980: p. 5) and Dunn (1965: p. 242), Garrod's studies on alkaptonuria, published in 1902, state clearly the hypothesis that alkaptonuria is inherited as a Mendelian recessive trait. In 1910, the American physician James B. Herrick presented his findings of the blood disease (later to be called "sickle cell anemia") at the annual meeting...
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Research Article| March 01 2011
Who First Reported a Genetic Disease?
The American Biology Teacher (2011) 73 (3): 133.
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William D. Stansfield; Who First Reported a Genetic Disease?. The American Biology Teacher 1 March 2011; 73 (3): 133. doi: https://doi.org/10.1525/abt.2011.73.3.2
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