This morning, Drs Mario R. Capecchi, Martin J. Evans, and Oliver Smithies were jointly awarded the Nobel Prize in Physiology or Medicine for their discoveries of “principles for introducing specific gene modifications in mice by the use of embryonic stem cells.”
The technology for homologous recombination in embryonic stem cells permits specific targeting of genes for disruption or modification in the resulting animal. Known as transgenic gene “knockouts” (and more recently, “knock-ins”), the methodology has allowed the study of specific processes in normal development, adult physiology, and numerous diseases. According to the Nobel press release, over 10,000 gene knockout mouse strains are now available, representing the manipulation of half of the total genes in mice.
With gene targeting it is now possible to produce almost any type of DNA modification in the mouse genome, allowing scientists to establish the roles of individual genes in health and disease. Gene targeting has already produced more than five hundred different mouse models of human disorders, including cardiovascular and neuro-degenerative diseases, diabetes and cancer.
Mario Capecchi is at the University of Utah, Sir Martin Evans is at Cardiff University in the UK, and Oliver Smithies is at the University of North Carolina at Chapel Hill, having done much of his groundbreaking work while at the University of Wisconsin.
The Nobel press release has a detailed chronology of the development of the methodology and a superb illustration of the process.
Addendum: Bora asked below who might have predicted these winners.
Actually, these gents were among the short list of predictions by Thomson Scientific last year.
M. William Lensch was also spot-on at his Nature Networks blog, The Red Pill.