Exome Sequencing: One Small Step for Malignant Hyperthermia, One Giant Step for Our Specialty
Abstract
One hundred years ago, the traditional world hitherto known to physicists ceased to exist. Within the time span of a generation, the foundations of classical mechanics were shattered by Einstein’s theory of relativity and quantum mechanics. A new era and the Golden Age of New Physics began. One hundred years later – today – a comparable revolution is taking place and this time in medicine. Yet, few practicing physicians inside and outside our specialty are aware of this revolution. When future historians will look back at the first decades of the 21st century, they may refer to this time period as the era of genomic medicine. An era where for the first time the full power and information of the human genome became accessible and was harnessed to improve the lives and conditions of everyday patients. Two reports in this issue of Anesthesiology1,2 represent a milestone for our specialty: for the first time exome sequencing has been used to identify novel mutations for malignant hyperthermia.
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