quarta-feira, outubro 10, 2007

Nobel - Medicine

2007: U.S. citizens Mario R. Capecchi and Oliver Smithies and Sir Martin J. Evans of Britain for groundbreaking discoveries that led to a technique for manipulating mouse genes.


10.10.2007 / 09:46 Nobel in medicine awarded to three for "knockout" mice
NEW YORK. October 10. KAZINFORM. Three scientists have won the 2007 Nobel Prize in Physiology or Medicine for pioneering methods that allow scientists to "knock out" specific genes in mice, a crucial technique for studying genetically caused human diseases.

The Nobel Assembly at the Karolinska Institute in Stockholm, Sweden, announced yesterday that U.S. researchers Mario Capecchi and Oliver Smithies will share the prize with British geneticist Sir Martin Evans. The award is worth 10 million Swedish kronors (about 1.5 million U.S. dollars).

The trio received the honor for developing methods to selectively target genes in mice using embryonic stem cells, the award committee announced.

The research is often used to create "knockout" mice missing one or more genes, allowing scientists to determine how specific genes cause disease, the committee said.

This work has "has revolutionized life science and plays a key role in the development of medical therapy," the committee added.

Stem Cell Technique

Evans, of Cardiff University in Wales, identified and isolated stem cells while working with mice. These cells, found in animal embryos, are able to develop into any kind of specialized body tissue, such as those of the heart or skin.

Evans discovered that lab-cultured stem cells could be altered and injected into mouse embryos to produce genetically modified rodents.

Capecchi and Smithies, who are Italian and British-born, respectively, developed a method of altering genes by introducing short sequences of altered DNA into cultured cells.

The technique allows scientists to target individual genes with extreme precision to produce a particular genetic mutation.

The combined work of the three scientists makes it possible to breed mice with tailored genetic mutations that would be passed down through generations.

Steve Brown, director of the Medical Research Council's Mammalian Genetics Unit in Harwell, England, said the research techniques developed by the prize 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," he commented, Kazinform quotes National Geographic News.

"As mouse and human genomes are almost identical, this approach is having an enormous impact on our understanding of human disease."

More than 10,000 mice genes—about half the genes in the mammalian genome—have been knocked out to date.

Mice have now been used as models for more than 500 human disorders, ranging from heart disease and neurological disorders to cancer.

Last year U.S. researchers Andrew Fire and Craig Mello also won the Nobel Prize in medicine for genetics work. They discovered RNA interference, a naturally occurring process that can "silence" specific genes from being expressed.

Gene Therapy

Capecchi, of the University of Utah in Salt Lake City, has since focused on genes involved in organ development. The work has shed light on some inherited abnormalities.

At the University of North Carolina at Chapel Hill, Smithies has created mouse models for inherited illnesses such as cystic fibrosis and heart and blood disease.

And Evans has developed mice to investigate the genes responsible for cystic fibrosis. He is also testing the effects of gene therapy, in which genes are transplanted into cells to help treat a disease.

The award was principally awarded for the groundbreaking technology developed by the winners in the 1980s, however, said Nobel committee member Göran Hansson, speaking in Stockholm after the prize was announced.

This breakthrough has since proved "enormously important, because for the first time in history, genetics had become an experimental science," Hansson said.

Previously, he said, the study of human disease had been limited to observation and statistical association.

"Now when you find a mutation in an individual with a certain disease, you can mimic that precise mutation in a mouse and find out if the mouse gets that particular disease," Hansson added.

The development of new therapies to correct human genetic defects will build on gene modifications in mice that are based on the discoveries of Capecchi, Evans, and Smithies, he said.

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