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Map of human genome opens doors of disease

Medicine will be able to focus on causes, not symptoms, doctor says

October 24, 2002
Prithi Yelaja, Toronto Star

With the discovery of the detailed map of the human genome - the 3 billion bits of information that lie encoded in the DNA of most human cells - comes promise as well as peril, says a scientist who is one of the driving forces behind the genomics revolution.

The human genome's ultimate promise is understanding why disease happens, something that has eluded scientists in the past, said Dr. Eric Lander, director of the Whitehead Institute Centre for Genomic Research at the Massachusetts Institute of Technology.

"What it means for patients is that increasingly medicine will be able to focus on the root causes of disease. Most of the 20th century has been devoted to treating symptoms because we haven't known the causes." About 95 per cent of the human genome, the "full parts list for the human body," is now finished, Lander said. Scientists have already identified about 24,000 of the 30,000 genes that make up the human body. The genome is on target to be fully completed by next April.

"It means to close all the gaps and ambiguities that are present in the draft sequence (of the genome) that was published last year, which still had a quarter of a million holes in it," he said. "If this is going to be the foundation for 21st-century medicine, we really have to get it right."

Lander is in Toronto at the behest of the Gairdner Foundation to deliver the annual "Minds that Matter" public lecture tomorrow night.

He is also among 10 recipients of a Gairdner Foundation award this year, given for outstanding achievement in medical sciences. Of the 255 winners since the award was established in 1957 by Toronto businessman James Gairdner, 56 have gone on to win a Nobel Prize.

As director of the MIT centre, Lander leads 300 scientists and lab technicians in the task of sequencing the DNA of humans, mice and other organisms, and using that genetic information to understand the basis of diabetes, cancer, manic-depressive illness and other conditions.

The centre is the largest of the labs helping the American government in its $3 billion effort to decipher the so-called Book of Life. The first draft of the genome has already opened the floodgates to spectacular advances in science and medicine.

The current medical model has limited options to treat disease. Take most cancers, for example. Doctors can burn the disease with radiation, poison it with chemotherapy or cut it out with surgery.

But with the human genome, doctors may be able to skip the harsh treatments and turn down the gene that tells cancer cells to divide out of control. Illnesses caused by faulty genes, such as cystic fibrosis and multiple sclerosis, may one day be treated by inserting new genes into people.

"I don't want to say that the genome project is necessarily going to give us cures for all those things. But I'm optimistic that if you know the mechanism of diseases, you have a better chance of fashioning therapies that target them," said Lander, whose father had multiple sclerosis and died when he was 11.

One day, everyone may have a chip containing their personal genome to aid in diagnosing, treating and even preventing disease.

"At the moment it's still pretty expensive to do and we wouldn't know what to do with the information, but I think at some point in this century, it will be quite reasonable to know your entire genome," Lander said.

However, at the same time that genome discoveries are meant to help doctors diagnose and treat illness, serious concerns are being raised about their proper use.

Lander believes governments should pass strong genetic privacy laws, otherwise people will avoid genetic testing for fear the results will cost them their jobs or their medical insurance in the United States.

"And also, frankly what do people want to know? Do you want to know whether you are at higher or lower risk for Alzheimer's disease if there is no particular way to prevent it at the moment? Sometimes foreknowledge is no blessing," Lander said.

At 45, Lander is considered one of the world's foremost biologists and a prominent figure in the biggest medical project of all time, though he has no formal education or training in the field. He came to study biology and genetics through a rather circuitous route.

The captain of his high-school math team in Brooklyn, N.Y., Lander went on to study math at Princeton University and earned his Ph.D. at Oxford University on a Rhodes Scholarship.

At 24, he became an assistant professor at the Harvard Business School, teaching managerial economics, but decided life as a mathematician was lonely. His younger brother, who is a neurobiologist, suggested that he learn about the brain "because it has all sorts of mathematical stuff in it."

Lander started sitting in on lectures and moonlighting in some biology laboratories.

Then, a fortuitous meeting landed him squarely in his new profession. As Lander was leaving a biology lecture at MIT, he bumped into David Botstein, a well-respected yeast biologist.

Botstein wanted to understand the role of genes in diseases that affect millions of people, such as cancer, diabetes, and schizophrenia.

Botstein had a statistical puzzle for Lander: How could scientists track these hundreds of genes? Lander entered the world of human genetics and never looked back. That was 15 years ago.

Following his lecture tomorrow, broadcaster Ann Medina will moderate a discussion with Lander and a panel, which includes two Nobel Prize winners in medicine.

© Copyright 2002 Toronto Star Newspapers, Ltd.