British-born US biochemist who, with Italian-born US molecular geneticist Mario R Capecchi and British geneticist Sir Martin J Evans, shared the Nobel Prize for Physiology or Medicine in 2007 for his contributions to the discovery of the principles of introducing specific genetic modifications in mice created using embryonic stem cells.
Smithies developed a process, independently of fellow Nobel Laureate Mario Capecchi, known as homologous recombination. This process enabled the modification of mouse embryonic stem cells before they were used to create live mice. This allowed the creation of mice that had genes added from other species, such as human, as well as ‘knockout’ mice where a specific gene had been silenced. The use of ‘knockout’ mice has proved instrumental in determining gene function in diseases, and over 10,000 have been created so far, covering half the genes of the mammalian genome. Smithies's research has specifically advanced understanding in cystic fibrosis and has huge potential for the development of new treatments for combating human diseases.
Smithies was born in Halifax, UK. He was awarded his PhD in Biochemistry by Balliol College, Oxford University, in 1951. Smithies worked at the University of Wisconsin-Madison from 1960 to 1988, initially as an assistant professor, before becoming an associate professor and finally Leon J Cole and Hilldale Professor of Genetics and Medical Genetics. Since 1988, Smithies has held the position of Excellence Professor of Pathology and Laboratory Medicine at the University of North Carolina at Chapel Hill, North Carolina, USA. Smithies was elected a member of the US National Academy of Sciences in 1971 and was awarded a fellowship in the American Academy of Arts and Sciences in 1978. He was elected a Foreign Member of the Royal Society, London, in 1998.