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Clues Gained on Path to Genetic Map : Science: About 600 scientists will gather here for the Third Annual Human Genome conference.


Scientists' 15-year, $3-billion quest to identify the 3 billion chemicals in the human genetic blueprint is called the "Holy Grail" of genetics.

It also has been likened to a Rosetta stone that could revolutionize medicine, allowing doctors to treat diseases before there are even symptoms.

It also has been blasted as a pork-barrel project that will deprive individual scientists of funds and squash creativity as the big science endeavor sops up more than its share of money and talent.

The international Human Genome Initiative, described by some as the most important project in the history of biology, holds the promise of creating a genetic map that researchers could use to find and repair defective genes that cause diseases such as Huntington's and Alzheimer's.

"It's like a manhunt for a criminal. If you don't know where the criminal is, you can't mount a good search," said Theodore Friedmann, professor of pediatrics at UC San Diego and a pioneer in gene therapy. "But, if you know he's in Des Moines or San Diego, you can surround the town and start looking."

Starting Monday, about 600 of the world's scientists will gather in San Diego for three days to discuss their progress and debate thorny ethical issues during the Third Annual Human Genome conference.

Although the endeavor is touted as international, about 75% of the research is now conducted by U.S. scientists, said Charles Cantor, the principal scientist for the Department of Energy on the Human Genome Project. England, France, the Soviet Union and Japan also are participating in the work, and U.S. scientists hope those countries will step up their involvement as the research promises to be beneficial to all mankind.

"This could be a turning point in medicine. Medicine is currently treating a disease once it happens," said Ron Davis, professor of biochemistry and genetics at Stanford University. "But, with this, you can determine someone will suffer problems, and you treat those problems before they happen. . . . Many doctors have said that $3 billion is very inexpensive when you think of the impact on health."

The same project, however, has been criticized by others as a folly that's squandering scientists' time and valuable resources.

"This project was so clearly pork barrel," said Martin Rechsteiner, co-chairman of the biochemistry department at the University of Utah School of Medicine. "This is not scientifically valuable. It's not a smart way to spend money. We don't need to know this information, and I still maintain that most of this will be gibberish that we won't be able to understand."

But the chorus of opposition is clearly quieting as scientists plow ahead with the Human Genome Project, a scientific mega-venture with a $140-million budget for U.S. researchers for the 1991 fiscal year, Cantor said.

The human genome is the genetic blueprint of human beings. Deciphering this blueprint, or map, scientists believe, will eventually allow them to determine cures for as many as 4,000 diseases caused by single genetic defects and others that are caused by many genes working together that cause diseases such as cancer, diabetes, and alcoholism.

As a result of this project, scientists hope to create the gene map of a "generic" human being. This map will hold 3 billion bits of information, but among that mass of information, only one-tenth of 1% will differ between any two individuals, said Dr. Glen Evans, head of the molecular genetics laboratory at the Salk Institute. Because of the inherent similarities among individuals' gene maps, the information will be universally useful.

Genetic information is encoded in DNA, or deoxyribonucleic acid. DNA is composed of chromosomes that hold smaller units called genes, which determine a person's individuality. Humans have about 100,000 genes in 23 pairs of chromosomes.

There are four chemicals called bases in DNA. The 3 billion bases in the human genome are strung together like colored beads on a necklace. If the DNA in one human cell could be unwound, it would form a thread more than 5 feet long and less than 50-trillionths of an inch across.

Today, scientists are trying to identify the location of each of those 3 billion bases, a process called sequencing. It now costs $1 to $4 to sequence each base, Cantor said.

But, with 3 billion bases to identify, the cost is prohibitive. "We would spend every dollar on the bases alone, and obviously we can't do that," Cantor said.

Scientists are on schedule in sequencing DNA and mapping genes, which is slated to take 15 years, Cantor said. But that schedule depends on advances still expected to be made in laboratory technology.

"Progress is being made in bits and pieces," said Davis of Stanford University. "It's going to be slow. The problem is we can't tell people that life is going to be better next year. There is not going to be much impact on Americans by next year; this is long-term."

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