Progress Made on Human Genetic Code
by
Matt Crenson,
AP National Writer

4:23 PM EDT; June 27, 2000; (AP) -- It will take decades, perhaps the entire 21st century, to fulfill the grand promises made at the unveiling of the complete human blueprint. But researchers already are taking impressive strides with human genetic data since it began flowing in a torrent about a year ago. "Whole new fields of biology are opening up right now, as we speak, and we don't even know what they are yet," said Richard Young, a researcher at the Whitehead Institute for Biomedical Research in Cambridge, MA. At the Whitehead Institute on Tuesday, David Altshuler was chasing down diabetes genes at such a rate that what once took researchers years can now be finished before lunch. Todd Golub was studying how identical-looking cancer tumors can be very different genetically -- vital clues for doctors trying to decide on the proper treatment. And Young was using human genome data to chronicle the battle between the human immune system and its most potent foes. "What we want to capture is the beginnings of the war between us and the infectious disease as it's infecting us," Young said. "I think there's a lot of information that the genome has to tell us." In the long run, the genetic information announced Monday could be used to cure some diseases, give patients valuable knowledge of their susceptibility to others, and reveal how a human being arises from a single cell, functions through a lifetime, and dies.

"We have caught the first glimpse of our own instruction book," Human Genome Project director Francis Collins said Monday. Making sense of that book, however, will take years of research. For example, every gene contains the codes for a protein. It is those proteins that do the work of the body.

So, to truly understand and take advantage of the genetic code, biophysicists like Stephen Burley of Rockefeller University in New York City will have to do the same thing with proteins that geneticists are doing with genes -- exhaustively cataloging and characterizing them. "You can think of this book of life that people have been talking about as a starting point," Burley said. Humans also must be compared to mice, fruit flies, yeast, and other organisms. Biologists have learned that humans bear remarkable genetic similarities to other organisms. The genetic instructions that direct embryonic development of a fruit fly, for example, are identical to those for a human. Finding more similarities between man and beast will help reveal how humans are put together.

Scientists must also probe the genetic diversity of the human race. The mass of information announced Monday really only represents the few dozen individuals who donated DNA for analysis, not all six billion humans on the planet. For that reason, a consortium of pharmaceutical companies and research laboratories has embarked on a project to catalog the genetic variations that make us different. Scientists estimate that there are 300,000 spots in the human genetic code where individual differences can exist. Some of them may have been found during the genome mapping project, but many more are yet to be revealed. The most immediate payoff from the human genetic code is expected to be in medical diagnostics and drug development. Most current drugs treat the symptoms of a disease and are developed by arduous trial-and-error methods. Genetic information is already making it possible to design drugs that get at the root of a problem.

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On the Web:

Human Genome Program: ornl.gov/hgmis ;

Celera Genomics: celera.com .