“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 the discovery of the usual law of nature by the 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 of applicable nature, is hardly perceived unless we are deprived of them, or they become deranged in some way.” (William Harvey, April 24, 1657)
We will follow the prophetic statement of Harvey, the discoverer of the circulation of the blood, on the value of studying rare diseases in humans in two examples: both of which are highly relevant to the function of the peripheral nervous system.
First, we will see how studies on the function of a gene responsible for a recessive form of the demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease have illuminated our understanding of Schwann cell structure and function.
Secondly, we will examine the role of the the Neurofascin gene in clustering voltage gated sodium channels at nodes of Ranvier in myelinated nerves in order to promote rapid nerve impulse conduction.
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