Science: The Gene Hunt

Scientists launch a $3 billion project to map the chromosomes and decipher the complete instructions for making a human being

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How and if these and other genetic research efforts will be coordinated with the Human Genome Project is a question being pondered by director Watson and his advisory committee. "Right now," says Watson, "the program supports people through individual research grants. We have to build up around ten research centers, each with specific objectives, if we want to do this project in a reasonable period of time."

The effort will also include studies of genes in other organisms, such as mice and fruit flies. "We've got to build a few places that are very strong in mouse genetics," Watson says, "because in order to interpret the human, we need to have a parallel in the mouse." Explains Genentech's Botstein: "Experimentation with lower organisms will illuminate the meaning of the sequence in humans." For example, genes that control growth and development in the fruit fly are virtually identical to oncogenes, which cause cancer in humans.

One of the early benefits of the genome project will be the identification of more and more of the defective genes responsible for the thousands of known inherited diseases and development of tests to detect them. Like those already used to find Huntington's and sickle-cell markers, for example, these tests will allow doctors to predict with near certainty that some patients will fall victim to specific genetic diseases and that others are vulnerable and could be stricken.

University of Utah geneticist Mark Skolnick is convinced that mapping the genome will radically change the way medicine is practiced. "Right now," he says, "we wait for someone to get sick so we can cut them and drug them. It's pretty old stuff. Once you can make a profile of a person's genetic predisposition to disease, medicine will finally become predictive and preventive."

Eventually, says Mark Guyer of the NIH's Human Genome Office, people might have access to a computer readout of their own genome, with an interpretation of their genetic strengths and weaknesses. At the very least, this would enable them to adopt an appropriate life-style, choosing the proper diet, environment and -- if necessary -- drugs to minimize the effects of genetic disorders.

The ever improving ability to read base-pair sequences of genes will enable researchers to speed the discovery of new proteins, assess their role in the life processes, and use them -- as the interferons and interleukins are + already used -- for fighting disease. It will also help them pinpoint missing proteins, such as insulin, that can correct genetic diseases.

Mapping and sequencing the genes should accelerate progress in another highly touted and controversial discipline: gene therapy. Using this technique, scientists hope someday to cure genetic diseases by actually inserting good genes into their patients' cells. One proposed form of gene therapy would be used to fight beta-thalassemia major, a blood disease characterized by severe anemia and caused by the inability of hemoglobin to function properly. That inability results from the lack of a protein in the hemoglobin, a deficiency that in turn is caused by a defective gene in bone- marrow cells.

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