Human Genome Project

GENETIC ROULETTE
The Human Genome Project is Ushering in a Biotech Revolution
Who’s Watching Out for Your Future in this Brave New World?

By Janet Basu
Illustration by Anita Kunz; photographs by Marcos Lujan


The unknown road

David Cox started on the path that would lead him to the Human Genome Project more than two decades ago in a tiny medical consulting room. He was a young pediatrician and geneticist, sitting hunched in a small chair, knee to knee with the parents of a newborn baby with Down syndrome.

Cox is a soft-spoken man with a calm, even manner. He has iron-black hair brushed back from a high forehead and dark eyes; when he looks at you, you feel the full force of his attention. That attention, and a voice that can quiet and soothe, was about all that he could offer these parents. He had few answers to their agonized questions. He could not predict their child’s future.

“The family always comes to you expecting the worst, protecting themselves against it,” he says. “But often, the worst is not what happens.”

Down syndrome causes a loss of brain cells that leaves some children so retarded they cannot feed themselves. But others grow up to lead relatively independent lives. Part of the difference in those outcomes lies in the babies’ genes. Somewhere along the extra copy of Chromosome 21 that every Down baby is born with, there’s a mutation - almost certainly several mutations - that cause brain cells to degenerate too rapidly.

As a geneticist, Cox knew that if he could compare the chromosomes of many people with Down syndrome, he could find clues to explain why some lose more brain cells than others. He could offer parents a better understanding of their child’s genetics. Someday, he might be able to offer treatments to make the children’s lives easier. And the same clues might help explain the biology of other brain diseases like Alzheimer’s and schizophrenia.

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See also Discoveries in Genetics

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NOV/DEC 1996

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