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Gene Research Moves Forward at ‘Frantic Pace’

Genetic information is driving a revolution in biomedicine, according to Dr. Eric Lander, who spoke at the U on Tuesday.

The idea that life transmits information at fundamental levels goes back to Mendel’s plant experiments in the 1800s. He was the first to study the laws of genetic inheritance. In the early 1900s, researchers began to discover how genetic information is transferred.

“Over the next 75 years, there were some amazing discoveries, and the study of genetics was born,” said Lander, director of the Center for Genome Research at the Massachusetts Institute of Technology.

Genomics may help researchers develop drugs for diseases before we know we need them. There is a genomic global cancer map being developed to help clinicians make better guesses about what’s really going on in their patients.

“In the past 25 years, we’ve discovered all the stuff about genes, how they work and where they are in the DNA,” he continued.

The widescale effort to learn everything about human genetic structure (or genome) has four major goals: establish a genetic map, establish a physical map, discover sequences and create a gene list. This combined effort is called the human genome project.

More than 20 groups from six countries around the world are working on the genome project. Progress on the project has moved along faster than scientists originally projected, at a “frantic pace,” Lander said.

“The project is truly an international collaboration,” Lander said. “This is the first example in science where the whole world has come together to solve a problem.”

The human genome is not the property of any one group or nation. When each group signed on to participate, its members had to agree that all information would be available to other participants on a 24 hour, around-the-clock basis.

Researchers have 80 percent of the human genome mapped. Their goal is to be done by April 2003. There will still be small gaps, but the basic mapping will be complete. The next generation will discover the exact genomic information content.

“When viewed on a graph, the human genome is interesting because it’s lumpy with gene rich areas and gene-poor areas,” Lander said. “This landscape is unusual because lesser organisms don’t have the gaps that ours does.”

Originally, researchers thought they would find around 100,000 genes, but they now agree that there will only be somewhere between 32,000 and 40,000 when the mapping is complete, and they were surprised to find that there isn’t much difference between the of vertebrates and invertebrates.

Since the basics on the human genome was published in February 2001, there’s been an explosion of new genomes completed for a variety of organisms, from yeast to fish.

Mammals are more difficult to map than invertebrates. Within two weeks, the mouse genome will be available, and researchers are excited because the more mammals they map, the faster they can map others because they can compare gene sequences across species.

Humans have a low rate of genetic variation, according to Lander, because they are a small group that has expanded very quickly in world time, only 3,000 generations or so, since starting out in Africa. But that isn’t enough time to cause much of a variance.

Other species may live only a few hours, days, weeks, months or years, and thus go through many more generations in a shorter period of time.

Lander said that researchers are all patting themselves on the back about how much they’ve learned, but they’re still just in kindergarten. They still have a decade or two before all the substructure is done. They still need better gene descriptions, and the real work is to put it all together into cellular circuitry.

Lander’s presentation, “The Human Genome and Beyond” was delivered to an overflow, standing room only crowd at the Eccles Institute of Human Genetics.

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