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Human 'Instruction Manual' Nearing Completion

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April 2, 2000 (Boston) -- Two billion down, one billion to go: scientists working on the Human Genome Project -- an international effort to translate into understandable terms the instruction manual for how to make a human being -- announced at a biotechnology meeting here that they're two-thirds of the way finished determining the code of 'letters' that spell out what human genes do, as well as where they live within cells.

And talk about scientific miracles: They managed to do it on time and under budget, according to Francis Collins, MD, PhD, director of the National Human Genome Research Institute at the National Institutes of Health (NIH).

"I'm a physician, and the reason I'm excited about the Genome Project is because of its medical consequences. I've spent way too much time in hospital clinics and wards not having answers [I needed] to be able to do a good job of being a healer and a caregiver," says Collins.

Although more than one billion bits of information still need to be identified and recorded before the entire puzzle is complete, the Human Genome Project has already allowed physicians to identify genes that appear to control conditions such as hereditary deafness and cerebral cavernous malformations -- an often-fatal disarray of blood vessels in the brain that can cause seizures and uncontrolled bleeding.

Collins predicts that in five to 10 years, researchers will uncover genes controlling all of the traits that might make some people more susceptible to illnesses such as diabetes, heart disease, schizophrenia, multiple sclerosis, asthma, and many common cancers.

Drug developers are also using the information to help create "designer drugs" that are much more effective at treating specific diseases while causing fewer side effects than currently available options.

"I think the Genome Project ... is in very good shape," says Collins. "We view ourselves as a sort of a feeder layer for this wonderful industry called biotechnology. We put as many resources out there as fast as we can, and we're counting on the [private sector] to take those raw materials and turn them into the products that the public needs," he says.

The substance of the code -- human DNA -- is made up of a code of four letters -- A, C, T, and G. The genome project is attempting to decipher the order of 3.2 billion of these letters, also known as bases. This sequence is important because it's the instruction as to how the basic building blocks of life are assembled.

The one-billionth base pair was recorded just last November, and the two-billionth in late March. At the current rate, 12,000 more are added every minute.

The international consortium of research centers working on the problem is on track, Collins says, to finish the 'working draft' of the genome in June, which is expected to contain information on about 90% of the human DNA sequence with 99.9% accuracy. The entire genome is expected to be ready and available before the end of 2003. From there, it's only a matter of time until new gene-based drugs and therapies start frequently coming to market.

Collins downplayed the significance of the competition between publicly-funded researchers and a private biotechnology firm, Celera Genomics Inc of Rockville, Md., which is racing to complete its own version of the human genome using a different method. The company has been open about its plans to sell access to the data, a move that troubles many people in the scientific community. Celera has also said that it is using previously published information available in the public domain to accelerate its own research.

"I think in 10 years people will sort of look back on this as a minor footnote," says Collins. "What's going to matter is whether or not we successfully got the human sequence done, got it done correctly, and got it done in such a way that any scientist who had a good idea could get access to it."

The financial stakes, as public and private researchers know, are high: The NIH has publicly come out in support of patents on human genes, provided that the patents are for clearly identified "functional gene sequences" -- those that hold promise as the basis for new drugs or therapies.

"I think it certainly is in the public interest to have patents which provide incentives to discoverers to develop products that the public is going to benefit from," says Collins. He adds, however, that "we are delighted that the Patent Office [is indicating] that a gene sequence for which no functional information is available would probably not be granted a patent."

The consortium comprises 16 centers in France, Germany, Japan, China, Great Britain, and the U.S., with five centers doing the bulk of the work: the Sanger Centre in Cambridge, England; Whitehead Institute in Cambridge, Mass.; Washington University School of Medicine in St. Louis; Baylor College of Medicine in Houston; and the Joint Genome Institute in Walnut Creek, Calif.

 

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