Medical Research Council funded scientist Sir Martin Evans, has been awarded the Nobel Prize in Physiology or Medicine for 2007 alongside Mario R. Capecchi and Oliver Smithies for their discoveries of "principles for introducing specific gene modifications in mice by the use of embryonic stem cells".
Sir Martin has been supported throughout his career by the MRC. Widely acclaimed as the father of UK stem cell research, Sir Martin was a pioneer in the field 20 years ago at Cambridge University. With MRC support he developed ways to culture embryonic stem cells derived from the mouse blastocyst – the ball of cells formed after fertilisation. The technique paved the way for targeted genetic manipulation and experimental mammalian genetics, tools used everyday by scientists in their efforts to understand the influence genes have on disease development.
Sir Martin Evans is former Director of the School of Biosciences and Professor of Mammalian Genetics of Cardiff University. He was knighted for services to medical science in 2004.
He received grant support from the MRC from the 1970s until the late 1990s, his most recent grant for £500,000 was held for research into gene therapy as a potential treatment for cystic fibrosis.
He wins the prize for his work in gene targeting which is a technique used to inactivate single genes. 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.
Sir Leszek Borysiewicz, MRC chief executive offered his congratulations: ‘‘Both personally and professionally I am delighted that Sir Martin's work has been recognised with a Nobel prize. MRC support for his work spanned three decades, his research is an example of excellent science leading to wider applications which will be of benefit to human health in the long-term.''
Such gene "knockout" experiments have elucidated the roles of numerous genes in embryonic development, adult physiology, ageing and disease. To date, more than ten thousand mouse genes (approximately half of the genes in the mammalian genome) have been knocked out. Ongoing international efforts will make "knockout" mice for all genes available within the near future.
The cell types initially studied by Capecchi and Smithies could not be used to create gene-targeted animals. This required another type of cell. Martin Evans had worked with mouse embryonal carcinoma (EC) cells, which although they came from tumors could give rise to almost any cell type. He had the vision to use EC cells as vehicles to introduce genetic material into the mouse. His attempts were initially unsuccessful because EC cells carried abnormal chromosomes. Looking for alternatives Evans discovered that chromosomally normal cell cultures could be established directly from early mouse embryos. These cells are now referred to as embryonic stem (ES) cells .
Professor Steve Brown, Director of the Medical Research Council Mammalian Genetics Unit, said: ''The fundamental techniques developed by Martin Evans and his fellow winners have allowed scientists to unravel how genes work in mammals. Together, they figured out how to remove one gene from a mouse at a time allowing us to study how the loss of a gene might disrupt diverse biological processes from development to the function of the brain. As mouse and human genomes are almost identical this approach is having an enormous impact on our understanding of human disease. The ability to study how individual genes might cause disease, leads to enormous opportunities for the development of new approaches to therapeutics and treatment.''
Gene targeting in mice has pervaded all fields of biomedicine. Its impact on the understanding of gene function and its benefits to mankind will continue to increase over many years to come.
The medicine prize was the first of the six 2007 Nobel awards to be announced. The other awards are for chemistry, physics, literature, peace and economics.
Winners of the The Nobel Prize in Physiology or Medicine for 2007
- Sir Martin J. Evans, born 1941 in Great Britain, British citizen, PhD in Anatomy and Embryology 1969, University College, London, UK. Former Director of the School of Biosciences and Professor of Mammalian Genetics, Cardiff University, UK.
- Mario R. Capecchi, born 1937 in Italy, US citizen, PhD in Biophysics 1967, Harvard University, Cambridge, MA, USA. Howard Hughes Medical Institute Investigator and Distinguished Professor of Human Genetics and Biology at the University of Utah, Salt Lake City, UT, USA.
- Oliver Smithies, born 1925 in Great Britain, US citizen, PhD in Biochemistry 1951, Oxford University, UK. Excellence Professor of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, NC, USA.