Like most 3-year-olds, David Reitz spends his playtime in constant motion. Large for his age, he’s a bundle of energy who likes speeding around the driveway of his Glenview, Ill., home in a motorized toy jeep, the family basset hound, Fran, by his side. But the picture is deceptive, for David was born with cystic fibrosis, an inherited, fatal disease that affects about 30,000 Americans and is the largest genetic killer of children and young adults in the U.S. Little wonder, then, that David’s mother, Peggy, 31, lost her composure when she learned that scientists had discovered the gene that causes CF, thus vastly boosting the chances that David will someday be cured. “They found the gene!” she whooped over the phone to her husband, Philip, 31, a Chicago investment banker. And then she began to cry.
The rest of that day, the Reitzes’ phone rang continually with excited calls from friends and family. “It’s time for a celebration,” Philip said that night, opening a bottle of champagne to toast the researchers who made the historic breakthrough.
For the Reitz family and thousands of other CF victims, the heroes who deserve grateful salutes are Dr. Francis Collins of the University of Michigan Medical Center in Ann Arbor, Lap-Chee Tsui of the Hospital for Sick Children in Toronto and the 30 scientists who worked closely with them. On Aug. 24, after 4/2 years of frustrating laboratory work, Collins and Tsui, both 39, announced their discovery. Before the gene was found, Collins says, the prospect of a cure “was quite dim. Now I hope this will lead to a treatment that will save the kids alive today who have CF.”
He is not alone in his optimism. Disease genes are often the hardest to trace, and those few that have been identified, such as the muscular dystrophy gene, carry gross abnormalities that, says Collins, “could be seen a mile away”—an understandable hyperbole. The discovery of the highly camouflaged CF gene greatly raises hopes of tracking down genes of other inherited disorders. And it also is expected to make possible a simple blood test to determine whether a person carries the CF gene. But it has far more immediate impact. The find “is the most significant development we’ve had since cystic fibrosis was first described in a medical journal 50 years ago,” says Robert Beall of the Cystic Fibrosis Foundation in Bethesda, Md. “Parents of children with the disease should be absolutely optimistic about the future. Now that we’ve dramatically increased our understanding of the basic defect, we can focus on better drug treatments and even develop gene therapy that could effectively replace the defective CF gene with a healthy one.”
About 12 million Americans, or five percent, unknowingly carry the CF gene, but a child must inherit it from both parents to be afflicted. A disorder affecting the lungs, pancreas and sweat glands, the disease strikes white people most frequently. CF victims once faced a life expectancy of barely 10 years. New treatments have more than doubled that figure in the past two decades, but lung infections such as pneumonia are still a constant threat. CF causes a thick, sticky mucus to build up in the lungs, which are then easily infected; a similar accumulation usually occurs in the pancreas, slowing the release of digestive enzymes. David Reitz takes enzyme pills daily to help him digest his food, and his parents must thump his chest and sides every day to loosen the mucus. “Whenever he starts to cough, we do a lot of worrying,” says Peggy. “At that point, life stops and we don’t think of anything else. If it doesn’t get better, then it’s off to the hospital for X-rays and medication.”
The discovery that has raised the hopes of such families often had the drama of a medical thriller. After studying genetic material from 54 CF families, Tsui had been able to place the CF gene on a particular chromosome—chromosome 7. Communicating constantly by telephone, express mail and fax with Tsui and his colleagues in Toronto, Collins and his team at Michigan developed a complex technique that allowed them to speed their hunt by isolating the most likely gene clusters. “It’s like looking for a needle in a haystack in the dark with thick gloves on and no clues,” says Collins. Then, aided by further biological detective work by Tsui’s colleague Jack Riordan, the scientists were able to complete their search. “No one imagined that one could find a gene in such a fashion,” Tsui says. “That’s why everyone is so excited.”
When Tsui arrived in 1974 from Hong Kong to do graduate studies at the University of Pittsburgh, he never dreamed he would make medical history. Quiet and personable, he works 12 hours each weekday and spends weekends at home in Toronto with his wife, Ellen, 39, and sons Eugene, 10, and Felix, 8, playing basketball and tending his tomato plains. Collins, born in Staunton, Va., and his wife, Mary Lynn, 40, also have two children, Margaret, 19, and Liz, 15. A graduate of the University of North Carolina medical school, Collins plays the guitar, and he and his wife lead the music in a church near their Ann Arbor home. Collins also found time this summer to work with Margaret in a mission hospital in Nigeria. Both returned home with malaria.
Collins shrugs off the physical costs of his work, in the lab or the field. Like Tsui, he knows that their labors have produced the hope, and perhaps promise, that precious lives will be lengthened. Philip Reitz understands that as well as anyone. “We’re happy for as long as we have David,” he says. “But what’s exciting about the discovery is that we may have him for much longer.”
—Ron Arias, Giovanna Breu in Toronto and Ann Arbor