September 1, 2001
WIRED MAGAZINE
The Citizen Scientists (continued)
“Researchers are single-minded,” explains Sharon Terry, vice president for consumers of Genetic Alliance, a Washington, DC-based coalition (of which Cody is president) representing 300 disease-specific organizations and hundreds of professional associations, such as the American Society of Human Genetics. “They often have no ability to see beyond their own project, and they don’t want any competition because they want to publish first.”
Before her odyssey into the scientific world, Terry had been a college chaplain, more at ease discussing theology and religion than Mendel’s laws of heredity. Then her 7-year-old daughter developed a persistent skin rash on the sides of her neck; every time Terry asked her pediatrician about it he dismissed her concerns as those of an overprotective mother. Finally, in 1995, Terry sought the opinion of a dermatologist, who took one look at the child and said, “She has pseudoxanthoma elasticum.” Then he glanced down at her little brother, who had come along for the ride, and said, “So does he.”
Terry’s first reaction was to worry about a disfiguring skin condition. But rashes were the least of her worries. PXE, as it’s known, can cause blindness, heart disease, and gastrointestinal bleeding. And, at the time, it was a true orphan disease, affecting so few people there was no central registry and virtually no research being done anywhere in the world.
Within a year of the diagnosis, Sharon and her husband, Patrick, had formed PXE International. They’ve raised money—$500,000 total and $250,000 this year alone—for research, funding grants ranging in size from $5,000 to $200,000. They’ve established a registry of 2,000 affected individuals worldwide; created three blood and tissue banks around the world, which they opened to any interested genetics researcher; formed alliances with other patient advocate groups; and opened 50 offices around the world.
“You can literally be a gene hunter in the privacy of your home while the kids are asleep.”
Terry quickly learned, however, that sharing does’t come easily to researchers. “Early on,” she says, “we banked our blood with some researchers. They were fine until some other researchers wanted to use the blood. Then they became hostile.”
So she carefully screens research candidates for the PXE board. “We run it; we make the decisions,” Terry says. “Any successes belong to the patients, not to an individual scientist or hospital.” Their efforts paid off big in October 1999, when a University of Hawaii researcher, who received samples from Terry’s group, discovered the PXE gene. But what grabbed the attention of the genetics world—as well as those in the intellectual property realm—was the news that Sharon Terry and the researcher had filed a joint application to patent the gene. Terry had set up the blood and tissue bank so that every scientist who used its samples would be required to share any intellectual property claims with the organization, to which Terry assigned the patent rights.
The group has laid claim to its own genes, which is no mean achievement in what many see as the biggest landgrab since the pioneers set foot in California. But not all parent groups have been so prescient. The patenting of the Canavan gene in 1997—one of the ugliest genetics disputes in recent years—serves as a warning to all patient activists.
The Canavan story begins in 1987, when Daniel Greenberg of Chicago persuaded Reuben Matalon, a geneticist at the University of Illinois, to research the gene that causes Canavan disease. Greenberg had two children with the rare disorder, which causes deterioration of the central nervous system. A baby with Canavan appears normal at birth, but by 3 to 6 months, the disease begins to wipe out the ability to see, think, and move. Most youngsters die before they become teenagers.
Greenberg helped to raise tens of thousands of dollars for research. He searched out families whose children had the disease and urged them to give blood, skin, and urine samples. In a short time, the geneticist’s work yielded important clues. He moved his lab to Miami Children’s Hospital, which invested millions of dollars in his research, and by 1993 he had succeeded in isolating the gene.
It was at this point that the hospital applied for a patent. In 1997, it began charging a royalty of $12.50 for every test. The Canavan parents were outraged and sued Matalon and the hospital, alleging their rights had been violated.
The dispute is tied up in court, and legal experts speculate it could affect the course of genetic collaborations for years to come. But so will the PXE model of patient-controlled research. Sharon Terry is currently advising 10 fledgling groups—some of which are in the process of breaking away from larger, more traditional organizations—on how to do it her way.
We’re sitting in the red-walled library of the Los Angeles house Portia Iversen shares with her husband, movie producer Jonathan Shestack, and their three young children. Poised on a table behind her is the Emmy she won for art direction on The Tracey Ullman Show in 1989. But that was another lifetime, before the birth of Dov, now 9, and his diagnosis, at age 2, of autism.
Within a year of the diagnosis, his parents began piecing together a parent support group called Cure Autism Now. In its sixth year, it has raised $8 million, recruited a stellar scientific advisory board, and created the largest autism gene bank in the world, containing blood samples and biomedical records drawn from more than 500 “multiplex” families—those with two or more autistic children. Last summer, the raw and unanalyzed data was put online for any qualified researcher to access and study, and at least 40 scientists have applied for passwords.
Shestack has taken on the politics, spearheading a national legislative assault that ultimately led to the Children’s Health Act of 2000, the first law to specifically target autism. Iversen has embraced the science, becoming at ease in the languages of genetics and bioinformatics, an interdisciplinary study of higher math, biology, and computers. She has fired off emails to some of the best scientists in the country, and sometimes shifted the direction of their research—as in the case of Michael Gershon, chair of anatomy and cell biology at Columbia University, whose lab is now studying autism.
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