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Basic Contributions to Medicine by Research in Genetics

C. Nash Herndon, M.D.
JAMA. 1961;177(10):695-699. doi:10.1001/jama.1961.73040360004005a.
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THE DISCIPLINE of medical genetics is a relative newcomer among the basic medical sciences. While clinicians have spoken of certain diseases as being hereditary or familial since the time of Hippocrates, this knowledge remained empiric and fragmentary until the science of genetics began to develop during the early decades of the twentieth century. Sir Archibald Garrod, in his lectures1 to the Royal College of Physicians in 1908 under the title of "inborn errors of metabolism," coined a new medical phrase and demonstrated the applicability of the general principles of genetics to human disease. Sir Archibald discussed 4 inherited metabolic defects. Some measure of the progress of half a century may be offered by the fact that we now have at least some knowledge of the metabolic abnormalities underlying more than 300 hereditary diseases. The acquisition of new knowledge in medical genetics proceeded at a relatively slow pace during


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