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Researchers report completing
first step in mapping human genes

April 6, 2000
Web posted at: 2:26 p.m. EST (1826 GMT)

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WASHINGTON (CNN) -- Private researchers announced Thursday they have identified the chemical makeup of the genes in the body of one human being.

The discovery announced by the company PE Celera Corp. of Rockville, Maryland, focused on the first of the six different living people its researchers are studying to map the human genome.

There are three steps in mapping the human genome: sequencing, assembling, and annotation. The human genome has not been mapped until all three steps are complete.

Click below for more information on each step.

Investigate into what makes up human DNA

Venter President of PE Celera, Dr. Craig Venter, says functions of many genes remain a mystery to scientists

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Hamer Dr. Dean Hamer of the National Institute of Health describes ethical issues surrounding the Genome Project

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This is the first time any group of researchers has claimed to make such a discovery. For that reason, it could not be subjected to peer review.

The project to map the human genome was launched by the U.S. government in 1990. Celera -- under the leadership of scientist Craig Venter, a former government researcher -- decided to start its own project in 1999, saying it could complete it quicker and cheaper than the government.

Although the private researchers are using different methods, their goal is the same as that of the publicly funded group: to plot the chemicals of the 80,000 genes that make up the human body -- known among scientists as the human genome.

"This is the end of the beginning," Venter told CNN. "It's going to move medical research forward by orders of magnitude. Hopefully, that will translate into new treatments for disease much sooner than would have happened otherwise."

Each chemical is assigned one of four letters A,C,T, or G -- representing the chemicals adenosine, cytosine, thymine and guanine. Once those chemical letters are sequenced, scientists can compare the patterns in different people to determine where there are genetic variations that could be the cause of countless diseases.

The hope among researchers is that drugs can then be designed to attack any such mutations and possibly cure diseases they cause.

Project not yet completed

Finishing the mapping process will give scientists for the first time the complete DNA, or genetic fingerprint, of one person. Sequencing all of the genes is the first step in this process.

The project is not yet completed. Once the researchers know the chemicals that make up the genes, they must assemble the chemicals in the proper order. Only then can they tell what the genes do.

"We're assembling one of the biggest jigsaw puzzles ever imaginable," said Venter. "Tens of millions of pieces."

Venter predicted his company would complete the "assembling step" in three to six weeks.

The government is expecting to unveil a rough draft of its effort to map the human genome this summer.

The research is raising worries in some sectors, though. Arthur Caplan, director of the center for bioethics at the University of Pennsylvania, said the work could be used by insurance companies to discriminate against people prone to diseases. "We don't have statutes nationally, internationally, about genetic privacy," he said.

Caplan's concerns were echoed by Dr. Dean Hamer, a genetics researcher at the National Institutes of Health, which is carrying out the parallel, competing research into the genome.

"Like any technology, genetic information has a potential for good -- and there's a tremendous amount of good to be done here -- and some potential for bad, simply in that it is information that could be used to identify people or discriminate against people," Hamer said.

NIH researchers who head the government's project have not seen any of the work done by Celera.

Celera was started by Venter specifically to map the human genome. The company announced earlier this year it had sequenced the genome of the fruit fly.

Implications of the Human Genome Project
March 17, 2000
U.S., Britain urge free access to human genome data
March 14, 2000
Who owns your genes?
March 21, 2000
Human Genome Sequencing
National Human Genome Research Institute (NHGRI)
The Human Genome Project
The Human Genome Organization (HUGO)

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