Genome Genius 

How a Hamilton woman helped crack the code of human life

When Jane Peterson graduated from Hamilton High School 35 years ago, she knew she would follow a career with an emphasis in science, but at the time she thought she’d probably follow the urging of her father, Dr. Richard Peterson, and become a medical doctor.

“But that wasn’t where my interests were,” Peterson recalls today. “Biological research was the thing I could do and really enjoyed. My brother, a research scientist, encouraged me.”

And that led Peterson on a journey into a field of medicine as exciting and significant as sending man into space. It is inner space—specifically, DNA—that occupies this former Montana woman’s time. Peterson is one of three project directors at the National Institutes of Health’s Human Genome Project (HGP). Under the direction and leadership of Dr. Francis Collins, the HGP has created a human genetic fingerprint—a map of the genetic code of human beings.

A genome is all the genetic material contained in a human cell. Each cell contains a complete copy of the genome. The “map” the HGP set out to make consists of letters that represent substances that make up the genes. A full genome is about 3.5 billion letters in length.

Peterson is now the director of the HGP Large Sequencing Team. After earning her Ph.D. at the University of Colorado, where she wrote her doctoral thesis on proteins that bind to DNA, she continued her post-doctoral work at Yale, establishing ways to transfer DNA from one cell to another. From there she joined the National Institutes of Health. She has worked closely with both Collins and Dr. James Watson, whose research in identifying DNA earned him the Nobel Prize.

“I remember back in about 1975 when we had a discussion about mapping DNA,” Peterson says. “Everyone in the lab laughed. We thought it was impossible.”

Watson’s early work was the foundation for the genome project, Peterson says. “If Jim Watson had not gone out and convinced Congress and the scientific community that this was important, it would never have gotten off the ground. His vision has come true.”

Peterson credits the combined efforts of research and technology for the success of the genome project. “Sequencing technology wasn’t there when we started,” Peterson says. “It has evolved to meet the needs of the project.”

The work began in 1988 and Peterson has been with the project from the beginning. The federal HGP has conducted research at a number of universities in the U.S. and Great Britain. It has been funded with tax dollars and donations from the Wellcome Trust. Collins, who heads the project, is the doctor who located the gene that causes cystic fibrosis.

More recently, over the past two years, a private company, Celera Genomics, founded by J. Craig Venter, has developed its own programs, based on earlier information available from the HGP public work. Celera has successfully mapped genomes of bacteria and the fruit fly.

Both Venter and Collins appeared with President Bill Clinton in a White House ceremony last week to announce the sequencing success. Although there has been a great deal of rivalry between the public and private sectors, the White House appearance had both men promising to publish their projects’ results at the same time later this year.

Peterson declined to comment on the competition between the two groups, saying only that the future would bring “cooperation but not collaboration” between HGP and Celera.

From the beginning, the project has been viewed as a means to greatly improved health care, providing medical science with the opportunity to attack diseases at their genetic roots. Within the next decade, tests may be developed that track a person’s susceptibility to various diseases and techniques developed to combat those diseases before they begin to develop. There are concerns, however, about the ethics of having a complete DNA map of each human being.

Back in 1988, one of the first sections of HGP to be established was the Legal, Ethical, Social Issues office, Peterson says. “We are all very concerned about the possible invasion of privacy or the potential loss of health care for individuals,” she says. “We knew there would be a need for public debate and that we had to get the public’s interest.”

Congress is now working on legislation to protect an individual’s genetic privacy. In his comments about the discoveries, Clinton promised that genetic code information would never be used to discriminate against people, cause loss of health care or be used to invade an individual’s privacy.

As for HGP’s map of human life, Peterson says last week’s announcement actually unveiled a “good, working draft.” The project is 90 percent complete but “there’s still a lot of editing to do,” she notes.

“We’ve been through many milestones,” Peterson says. “We’re ahead of schedule and below budget. In 1990 we talked about a 15-year plan. Well, we’ve just accomplished the working draft and we hope to be done by 2005.”

Among the research that’s still ongoing is the sequencing of variances from one person to the next—known as single nucleotide polymorphisms, or SNPs. Pharmaceutical companies foresee many practical applications for genome sequencing. Everyone’s SNPs are unique and those differences may explain why a certain drug is effective for one person but not for another. Working with those differences, drugs can be tailored to provide maximum efficacy for each individual, Peterson says.

“We’re just tapping the surface of all the applications,” Peterson adds. “My daughter is majoring in biology and may go into medicine. I’ve told her basic research science is a great opportunity.”

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