Einstein in genes

It is. Already great claims are being made that 2007 will be as important a year as 1905 in the annals of science. That year a flurry of papers by one man alone — Albert Einstein — changed physics and our understanding of the physical world forever. Years of rapid work on genes — more specifically, the human genome — are, this year, yielding plans on how to tap this knowledge to treat diseases and disorders.

• About this year’s winners?

Mario R. Capecchi, Martin J. Evans and Oliver Smithies share the Nobel for work on embryonic stem cells and DNA recombination in mammals. They are credited with advances in “gene knockout” technology. There are two parts to understanding the potential of their work. First, by gene knockout, a certain gene is deactivated. The Nobel committee’s announcement notes that “knockout mice” have already been made possible for 10,000 mouse genes. Two, “gene targetting” DNA modification of the mouse genome makes it possible for scientists to find the role of individual genes for specific human diseases and disorders. This has been done for hundreds of things, like cardiovascular troubles, cancers and diabetes. By targetting one gene at a time, a deeper profile of a disease can be made, including the sequence of how it sets in and progresses.

• What are embryonic stem cells?

Stem cells are unspecialised cells that can be made to undertake certain functions. For instance, they could be used to repair damaged cells, giving hope that once adequately harnessed, they could help sufferers of diseases and disorders like cancer, Parkinson’s, Alzheimer’s and diabetes, and to replace cells affected by injury (for instance, to the nervous system). Embryonic stems cells, as the name suggest, are derived from embryos. Scientists find that these stem cells allow them the greatest latitude in research and application.

• The prize is shared. Does this mean they collaborated on this work?

They worked independently. The Nobel announcement gives specifics of their individual work: “Gene targeting has helped us understand the roles of many hundreds of genes in mammalian fetal development. Capecchi’s research has uncovered the roles of genes involved in mammalian organ development and in the establishment of the body plan. His work has shed light on the causes of several human inborn malformations. Evans applied gene targeting to develop mouse models for human diseases. He developed several models for the inherited human disease cystic fibrosis, and has used these models to study disease mechanisms and to test the effects of gene therapy. Smithies also used gene targeting to develop mouse models for inherited diseases such as cystic fibrosis and the blood disease thalassemia. He has also developed numerous mouse models for common human diseases such as hypertension and atherosclerosis.”

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