From left, Katalin Csiszar, Charles Boyd and Olivier Le Saux are part of a University of Hawaii team that identified a gene mutation that causes a connective-tissue disease. UH researchers hope to develop data on the DNA of native Hawaiians.
A University of Hawaii research team's discovery of gene mutations responsible for a rare genetic disorder has led to the first patent in the nation with patients as co-discoverers, says Dr. Charles Boyd, team leader.
gene patent history
By Helen Altonn
He said the application to patent the gene was filed about a year ago by the investigators and a patient support group for the disease, pseudoxanthoma elasticum, or PXE. The patent is expected to be issued shortly, he said.
"We've had the only experience nationally in empowering people to get involved with the intellectual property of their genes," said Boyd, director of the Laboratory of Matrix Pathobiology in the Pacific Biomedical Research Center.
He said UH researchers also hope to work as partners with native Hawaiians in the next few years to develop patentable information on their genome, the DNA code that comprises their complete genetic composition, and the genetic differences that make them susceptible to certain health disorders.
In a similar project, the pharmaceutical company Hoffman-LaRoche bought the Icelandic genome from a small biotech firm, deCODE Genetics Inc., for $200 million, Boyd noted. The firm had government permission to get blood samples from every Icelandic citizen to establish a genetic database.
Boyd stressed, however, that "a genome is not a trivial thing."
"It's not something you step into and ask for DNA blood samples and generate information and make money from it," he said. "It belongs to that community; it does not belong to investigators.
"So to get the most out of the Hawaiian genome, we must get local Hawaiian communities involved. They need to be empowered and led to develop intellectual property as it relates to better understanding of their diseases and, consequently, diseases of other population groups," Boyd said.
Boyd discussed the Human Genome Project and what it will mean for mankind and Hawaii earlier this month at a Honolulu Chapter of the Achievement Rewards for College Scientists Foundation luncheon, where he was recognized as ARCS Scientist of the Year. Boyd is chief investigator and director of a cardiovascular research center at PBRC.
Boyd said the international Genome Project, which is working to discover the more than 30,000 human genes, is helping humans understand their own biology and evolutionary origin, but the biggest impact will be in understanding human susceptibility to diseases.
The discovery of gene mutations causing PXE originated from a Harvard group's work to decode genes as part of the Genome Project.
PXE, which occurs in about one in 25,000 births, can cause blindness, premature aging, hardening of the arteries and gastrointestinal bleeding from ruptured blood vessels.
"The Human Genome has helped enormously in understanding mutations in genes that cause rare, inheritable diseases," Boyd said.
He said UH researchers, working on a number of genetic disorders over the years, have learned most diseases are a mixture of environmental influence and inheritance of recessive gene mutations.
"Understanding lies in the Hawaiian genome," he said, explaining Hawaiians are predisposed to obesity, diabetes, renal disease and hypertension because of mutations of different inherited genes interfacing with a complex environment.
There is also an opportunity to better understand ethnobotanicals, natural products that Hawaiians have used traditionally to treat diseases, he said.
"We have a tremendous opportunity to take information from the Human Genome Project and apply it to something quite unique in these islands," he said. "(We can) learn a lot more about diseases like heart disease, asthma, end-stage renal disease and hypertension, and apply that to clinical care for them and intellectual property that will generate revenue for them and apply that to other population groups."
Laboratory of Matrix Pathobiology
University of Hawaii
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