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WINNING THE GENOME GAME
PERSONAL FACTORS DRIVE RESEARCHER PARTICIPATING IN MASSIVE PROJECT

When Norma J. Nowak was a little girl, she liked to nestle with her grandmother and the Encyclopedia Britannica, looking at illustrations of the human body.

Later, when she lost her husband to cancer, she learned that all bodies are not alike. He died from Hodgkin's disease, which for most people is a very treatable form of cancer.

What made her husband different?

His death spurred Nowak, a researcher at Roswell Park Cancer Institute, to work harder at probing the human genetic code, the biological blueprint that guides each human's unique physical development from conception to death.

This week, after years of research, most of that code, or genome, was published for the first time in two scientific journals.

Nowak played a big part by helping prepare the landmarks needed to map the 3.2 billion bits of chemical information that make up the genetic code.

"We have now at our fingertips the sequence for the human genome," she said this week. "We're still uncertain how the genes function, but we're able now to look at which genes figure into illnesses -- not only cancer, but asthma, cardiovascular disease -- basically, all the ones that kill us."

Nowak, who is the niece of former Rep. Henry J. Nowak, was part of an unprecedented cooperative effort that pulled together scientists from around the world to tackle the complexities of the human genome.

It is being compared to the scientific competition that led to the United States beating the Soviet Union to the moon in 1969. This time, however, rival groups of scientists competed, and the payoff is not moon rocks, but a far more precise way of diagnosing many human ills.

"This will allow you to look at genes, either at birth or sooner, and find who's susceptible even before they're old enough to have the disease," Nowak said. "We'll know the variants between people and know the variants associated with disease."

The work was painstakingly slow when she began her research at Roswell Park in 1986 under Tom Shows, a pioneer in the genome project. Bit by bit, she helped map one of the 24 pairs of chromosomes that make up the human genome.

The idea of coming up with a map for the entire human genetic code by 2000 was beyond contemplation, Nowak said. But advancements in computers and the work of thousands of scientists made it possible.

Throwing in a brash competitor also helped. Nowak worked with the International Human Genome Sequencing Consortium, a group of research centers funded by the federal government and a
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Game: Next comes mapping
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British foundation.

In 1998, the private company Celera Genomics announced that it was entering the chase. Its leader, J. Craig Venter, a prominent scientist, challenged the consortium, saying his company would complete the mapping task sooner.

In the end, both groups finished in practically a dead heat, and their results were published this week, one in the British journal Nature and the other in the U.S. journal Science.

The next step, in which Nowak plans to participate, involves determining how genes function so that effective treatments to prevent or cure illnesses can be developed. To achieve that goal, her next task will be helping to map the genetic code of a mouse.

Finding out how a mouse works genetically will aid the development of experimental treatments for people.

"What we're trying to do is apply the tools of the human genome project at the molecular level to better profile the alterations that occur in patients," she said. "You're getting a higher magnification of diseases, seeing details you didn't see before.

"That should help doctors and scientists both to find better ways to treat patients."

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