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Genome Map Opens Roads
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DNA Decoding Will Impact Everything from Medicine to Fuel
By
Peter N. Spotts
April
15 — In what many are hailing as a
historic milestone in the annals of modern science, researchers have announced
the successful completion of a project to sequence the human genome.
The 13-year, $2.7 billion undertaking drew to a close
Monday, 50 years to the month after scientists Francis Crick and James Watson
published their discovery of the structure of DNA, the biochemical instruction
book for organic life archived in the centers of cells.
Now, biologists are unrolling a fresh research blueprint for
genome-related research, drawn for what National Human Genome Research
Institute Director Francis Collins and colleagues have termed "the true
dawning of the genomic era."
They've assembled the parts list in the right order. Now
they hope to accelerate efforts to understand how the genetic information
they've uncovered yields the complexities and diversity of living organisms.
"We have opened the door into a vast and complex new
biological landscape," says Aristides Patrinos, director of the US
Department of Energy's Office of Biological and Environmental Research.
Even before the project ended, it was having a measurable
impact on areas ranging from medicine to the war against bioterrorism.
Researchers say information from the genome project has allowed them to develop
genetic tests that can help identify broad classes of cancer. Gene therapies,
in which defective genes are identified and replaced, remain in their infancy.
But scientists claim some success in treating mice with sickle-cell disease.
Practical Applications
Microcircuits that can quickly analyze DNA samples placed on
them are being used in equipment designed to test for many of the microbes
thought to be the most likely weapons in a bioterrorism attack.
Meanwhile, researchers using sequencing and computational
techniques developed for the Human Genome Project are looking for microbes that
could help clean up nuclear waste, refine gasoline more efficiently and with
less energy, or act as a source of hydrogen for fuel.
The praise and predictions surrounding Monday's announcement
of the Human Genome Project's end has a familiar ring. In February 2001, with
fanfare that included capturing the covers of the world's two leading
general-science journals, researchers with the Human Genome Project and a
private human-genome effort published rough drafts of the sequence.
Yet the drafts were laced with errors and contained vast
gaps in the sequence of pairings among the four chemical "bases" that
combine to form the "runs" of the now-iconic twisted-ladder structure
of DNA.
This Time, It's Complete
The
version announced Monday is as complete as today's technology can make it,
researchers say. The error rate has been cut from one mistake in every 1,000 base
pairs to one in every 10,000 — an accuracy that applies to 99 percent of the
genome's 3 billion base pairs.
Just as important, researchers add, are the finished
product's vast stretches of uninterrupted genetic information which is expected
to radically shorten the time it takes scientists to hunt for genes.
"It's a bit like moving on from a first-attempt demo
music tape to a classic CD," says Jane Rogers, director of sequencing at
Britain's Wellcome Trust Sanger Institute, a key player in the sequencing
effort.
The information and technologies the project has generated
already are profoundly affecting fields ranging from biomedicine and
hazardous-waste cleanup to the study of the origins and evolution of organic
life itself. The project also has laid at society's doorstep challenging
ethical and legal questions about the use of human genetic information.
Now scientists are moving into a new generation of global
research to build on the Human Genome Project's results. Writing in a
forthcoming issue of the journal Nature, Dr. Collins and several colleagues
outline what they see as the opportunities the completed genome offers for
improving medical care, dealing with environmental issues, and assessing the
effect genetic information can have on "concepts of race, ethnicity,
kinship, individual and group identity, health, disease, and 'normality' for
traits and behaviors."
Several projects already are under way. Last fall, the
National Human Genome Research Institute and collaborators began the International
HapMap Project, a three-year effort to pinpoint genetic variation within the
human genome. Another project aims to build an encyclopedia covering all of the
genes that code for proteins, and other important biochemicals, or that perform
other functions. This would allow scientists to quickly distinguish useful
genes from the junk genes the genome carries.
Applications for Energy
Meanwhile, the DOE is focusing efforts on one-celled
organisms and the roles they may be able to play in meeting U.S. energy needs
and cleaning the environment. Over the next 10 to 20 years, researchers want to
know how microbes, which make up an estimated 50 percent of Earth's biomass,
function at such a level of detail that they can accurately simulate how
organisms will respond to changes in their environment.
"We're just beginning to understand how to work with
multiple influences" instead of single determining factors, notes Alta
Charo, a professor of law and bioethics at the University of Madison at
Wisconsin. Those multiple influences can be found in the interplay between
genes and environment or the interplay of many genes within a genome required
to trigger a particular set of biological processes.
The idea of multiple influences "does not work well
within a medical system whose paradigm is to cure diseases that are presented
to it. It requires thinking from a more preventative point of view," she
says. "The Human Genome Project may push us toward a different
organization of the healthcare system, if we use the information
creatively."
As researchers probe the "sheer number of genetic
variances and mutations, we're going to slowly realize that any individual has
genetic variance," that variance is the norm, and consequently that, in
biological terms at least, there is no idealized "normal."
The challenge for society as it continues to grapple with
advances in genetics information "is not to say: we won't go there,"
Charo says. "The challenge is to say we will go there, and this is
how."
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Posted April 17, 2003
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