Secrets Of The Code

Research Enters Important New Phase

It's been more than two years since scientists trumpeted what many believe is the greatest feat in human history: the decoding of the human genome, the catalogue of the roughly 40,000 genes found in each and every human being. And the location of individual genes that control the color of your eyes, or indicate a predisposition to heart disease.

But the focus now is on how to use the information to treat illness and prolong life. Learning the secrets of the code is already having a profound effect on modern medicine and it won't be long before this Hollywood vision becomes reality.

Once the stuff of science fiction, individual genome sequencing could soon be a routine occurrence.

"I don't think it's any exaggeration, any bizarre extrapolation, to say in five to 10 years, during the course of this interview, you could get your genome sequenced, probably for a few thousand dollars," predicts Dr. Craig Venter.

He should know. He is one of two men responsible for mapping the human genome. The other is Dr. Francis Collins of the National Institutes of Health.

Now that the genome is mapped, Collins tells 60 Minutes II correspondent Charlie Rose, "The major focus is to look at the 0.1 percent of it where you and I differ. And that 0.1 percent carries within it the answers to the mysteries of why people are at different risks for
different disease."

While Collins worked the project through the publicly-funded NIH, Venter, forrmer surfer dude, college dropout and Vietnam medic, approached it from a different angle at a privately funded company he helped create called Celera.

They sparred for months over who would finish first, but, with some nudging from the White House, ultimately agreed to share the glory.

Since the genome became widely available, the volume of discoveries has been breathtaking. In just the past few months, researchers at Duke University announced the discovery of a gene linked to Alzheimer's disease that appears to inhibit cells from repairing themselves. In Chicago, a pregnant woman who carries the Alzheimer's gene was implanted with a disease-free embryo created in a test tube. She gave birth to a healthy baby girl. At the University of Pittsburgh, an international team of scientists became the first to identify a genetic region that may cause the eating disorder anoerxia nervosa.

Knowing where genes are and what they do is all well and good. Finding ways to control or alter their activity is another matter indeed. And that's the second phase science has now entered, a new frontier fraught with excitement, controversy, and, in a few cases, sudden death.

For example, gene therapy, attempts to inject patients directly with corrective genes to replace missing or defective ones, came to a shattering halt more than two years ago after 18-year-old Jesse Gelsinger volunteered for the therapy to treat his rare form of liver disease and died shortly after treatment began.

"When Jesse Gelsinger died I think the innocence of the field of gene therapy died with him," says Collins. "We had considered gene therapy, I think, unrealistically, as an approach which had enormous promise and very low risk. It's been a hard going. And certainly the notion that gene therapy was entirely safe, compared to other approaches, went out the window with the death of this young man."

Dr. William Haseltine, a pioneer in AIDS research, believes the best near-term success will come from drugs that use proteins created by human cells to spur the body's natural ability to repair itself.

His company, Human Genome Sciences in Rockville, Md., has seven such drugs in various stages of clinical trials, and tens of millions of dollars are riding on the outcome.

"Our pharmacopia is the human being himself," he says. "Medicine in our view shouldn't just be used to treat a disease every day with a pill. It should reconstruct the body, to trigger the body to reconstruct itself. And that's the medicine that we use."

That's where stem cells fit in.

"There are some kinds of damage to our bodies, whether it's trauma, whether it's disease, whether it's age, which will have so damaged the body that you cannot expect it to, even if stimulated to repair itself," says Haseltine. "And that's where stem cells come in, because then you put in new, young cells and the body will be stimulated to rebuild itself in a new and hopefully younger and more functional form."

Scientists knew about human stem cells before the genome was decoded and they've now become critically important in the quest to repair defective or damaged genes. Adult stem cells, found in hard-to-reach areas like the brain and bone marrow, may have limited potential to change into other cells. But new stem cells, harvested from human embryos, are believed to have unlimited potential to change into intestinal tissue, muscle, bone, brain cells - virtually any part of the body.

But the manipulation of human embryos, even for the staggering health benefits they may contain, has set off a moral and ethical debate. The debate has led the Bush administration to place limits on publicly funded stem cell research.

Some scientists, like William Haseltine, find those limits disturbing: "Will we as a world, not just the United States, will we as a world make an investment in this research?"

Venter says the U. S. already is losing top scientists to other countries because of the bans on stem cell research here.

"For the first time, we can understand our own development," he says. "So, if you think of nothing other than pure basic science of understanding how ourselves develop…to me, that's probably far more important now than understanding the genetic code."

That's why one of the genome sequences studied by his company was his. "I found out already, like everybody does, that I have several lethal traits," he says. "I have potential for diseases that have a chance of ending my life early. My father died just a few years older than I am now, from sudden cardiac death."

His own genetic code has things associated with cardiovascular disease, he says, but he is glad he knows about it. He advocates that everyone should know, even if the news is incredibly bad.

"Knowledge is freedom," he says. "Knowledge will change all our lives. It gives us control over our lives."