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Chapter 1: Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes

Contributors: Arthur L. Beaudet, Charles R. Scriver, William S. Sly, David Valle

Abstract

Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to discovery of the usual law of Nature by careful investigation of cases of rarer forms of disease. For it has been found, in almost all things, that what they contain of useful or applicable is hardly perceived unless we are deprived of them, or they become deranged in some way. (Taken from Garrod1quoting a letter written by William Harvey in 1657 to emphasize the value of studying human variants.)

 


DOI Reference Number : http://dx.doi.org/10.1036/ommbid.1

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