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From his study of Belgian Blue cattle, Lee knew the mutation could occur naturally. A cross between the Shorthorn and the Holstein, which have been bred for some 150 years, these massive animals look as if their skin has been stuffed with watermelons. They've. Lee got in touch with Dee Garrels, owner of the Lakeview Belgian Blue Ranch in Stockton, Mo., who sent him samples for testing. Garrels knew Belgian Blues were strong—her 2,500-pound bull once ripped a metal restraining gate off its hinges with its horns to get at a cow in heat—and Lee found out why. He discovered that they had mutations in their myostatin genes.
Lee didn't see the power of a human myostatin mutation until Markus Schuelke contacted him in 2003. A pediatric neurologist in Berlin, Schuelke had been summoned three years earlier to examine a jittery baby in the nursery at Charité hospital in Berlin, where he was taken aback by the newborn's chiseled calves and sculpted quads. By the age of four the boy could hold up a pair of 6.6-pound dumbbells at arm's length. Schuelke had been monitoring the boy's development, and he got in touch with Lee, who confirmed the boy had mutations on both myostatin-coding genes, leaving no detectable amount of the protein in his body.
Apparently it ran in the family. The boy's mother, who was 24 when she gave birth to the "superbaby," had a mutation on one of her two myostatin genes, presumably leaving her less of the protein than normal but not so little that she was as muscle-bound as her son. Nevertheless, she is a testament to the tantalizing temptation of gene-doping. Superbaby's mother, the only adult in the world with a documented myostatin mutation, was a professional sprinter.
THE WORLD ANTI-DOPING AGENCY has banned gene tampering in athletes and spent millions attempting to develop tests to identify it. Such a procedure will require technology unlike any employed by antidoping scientists. The theory, according to Ted Friedmann, the scientist leading WADA's search for gene-doping countermeasures, is to fight genes with genes. If one medical breakthrough is revolutionizing doping, perhaps another can beat it back.
Thanks to the Human Genome Project, someday all of us could carry our entire genetic blueprint on a microchip, which we'd present to doctors during medical treatment. As that technology matures, Friedmann hopes athletes' genomes can be screened, and that gene-doping markers or signatures will emerge.
As pharmaceutical companies race to turn genetic research into medicine, new gene-therapy drugs could come to market en masse over the coming years. In practical terms it will be impossible to develop specific tests for each of them. "We can keep buying instruments and keep building labs," says pharmacologist Don Catlin, founder of the UCLA Olympic Laboratory, "but [the antidoping] industry isn't like Exxon. There are certain limits."
Perhaps a time will come when there is no longer a need to define those limits—not because of new artillery in the war on doping but because gene therapy will have become so widespread that it will be as controversial as Flintstone chewables. So far Sweeney has aided antidoping officials. "But I've often told WADA my position would change if [gene therapy] is proven to be safe," he says. "Then we're withholding something that would make the athletes healthier."
That would, in turn, raise a new series of questions: What is it we seek to gain from sport? Do we want to see larger-than-life behemoths swatting 600-foot home runs? Or do we prefer to see people more like us pressing the limits of their strength and skill? After all, with their legions of doctors and coaches and cutting-edge equipment, professional athletes, doped or not, are hardly us.
The gravest danger in the debate over gene transfer is not that athletes might taint sport by tampering with their genes. It's that by abusing such treatment, they'll create the same stigma for gene therapy that they have for steroids.
Pat Furlong has felt the effects of that stigma. She is the head of Parent Project Muscular Dystrophy. Her two sons began life happy and healthy, "and then over 10 to 15 years, you watch them go away, helpless," she says. Part of her job is to persuade parents of kids with muscular dystrophy and their doctors that anabolic steroids are beneficial. "I get calls from parents nervous about steroids because of what they've heard," she says. "But the flip side is that steroids have benefits in people who are losing function. In Duchenne muscular dystrophy, it's all we have.