Hyperphenylalaninemia and the genomic revolution

Abstract

Political revolutions are marked by the dates of their cataclysms, be theymajor battles or campaigns that shifted momentum: the American Revolution of 1776, the French Revolution of 1789, and the Russian Revolution of 1917. But each of these and every other revolution were preceded bymany smaller but very significant eventswhich culminated in the cataclysm. And each revolution was succeeded by changes that had lasting effects which made the revolution meaningful. So it has been with medical revolutions that have shifted the momentum of clinical practice. Immunization is said to have originated in the late 18th century with Jenner's demonstration of cowpox inoculation producing immunity to smallpox. Antisepsis is believed to have originated in the mid-19th century with Semmelweis's insistence that washing the hands before delivery reduces puerperal sepsis [1]. Anesthesia is also thought to have originated in the 19th century with the demonstration of ether administration in Boston [2]. However, each of these medical revolutions, just as political revolutions, had extensive preceding and succeeding histories. And so it is with the medical revolution in which we are now living, the genomic revolution, which may be the most revolutionary of all. Perhaps the “cataclysm” of the genomic revolution will be the demonstration of the double-helical structure of DNA in 1953, or maybe the mapping of the human genome in 2003, or perhaps a development in the future not yet foreseen [3]. What is certain is that there has been and will continue to be a long history of genetic developments that are already beginning to radically change medicine.