WASHINGTON (AP) Humankind stands on the verge of a new era of breakthroughs in treating disease thanks to the sequencing of the human genome, scientists told lawmakers Wednesday.
The promise of this research is great for alleviating human suffering, said Dr. Francis Collins, director of genome research at the National Institutes of Health.
If research continues to proceed vigorously, we can expect medicine to be transformed dramatically in the coming decades, Collins told the Senate Appropriations subcommittee on labor, health and human services.
Scientists have identified the chemical sequence of most of the human genome, the set of instructions in every cell that organizes the body. Now they are working on learning what each of those chemical instructions does and what happens when it is copied incorrectly.
While Collins and other researchers painted the future in glowing terms, they were joined by 13-year-old Joe Kindregan of Springfield, Va., who has a rare but progressive disease and hopes their work will pay off soon.
Actor Ben Affleck, who met and befriended the youngster, joined the panel to urge added federal funds for genetic research in general and, in particular, the deadly disease ataxia-telangiectasia that the Virginia boy and about 600 youngsters in the country have.
In researching diseases, its important to remember that there is a human cost. … Theyre real people undergoing real suffering, Affleck said.
The youngsters situation is emblematic of hundreds of thousands of people with disorders that do not make the headlines, Collins said. He recalled being part of a team that discovered the faulty gene that causes the disease.
Now scientists need to find out why that gene causes the problems it does when it is not working properly, he said, adding that there may be more people studying the disease than suffering from it.
The disease causes a loss of muscle control, predisposes children to cancer and damages their immune systems.
Overall, the panel of scientists had good news. Collins, for one, foresees family doctors testing for a variety of genetic abnormalities and prescribing treatments to prevent development of disease.
For example, he reported, scientists have identified the gene causing a rare blood disease called hereditary hemochromatosis, which causes dangerous levels of iron to accumulate in the blood.
Once people are identified by genetic testing they can easily be treated by periodically removing some of the blood, Collins said in prepared testimony. Its a combination of one of sciences newest diagnostic tools with one of its oldest treatments, bloodletting.
Philip Needleman, chief scientist at the drug company Pharmacia, told the subcommittee that genetic research isnt something far off in the future. It happens now.
Researchers are studying the causes of Alzheimers disease, he said, and are on the trail of treatments for colon cancer.
Stephen Rich of Wake Forest University said multiple genes interact with the environment in the development of Type 1 diabetes. If doctors can screen people to find those at risk, they can develop ways to prevent the onset of disease.
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