Working in a warehouse-sized laboratory filled with robot technicians, French researchers have made a significant advance in the race to identify the causes of all genetic diseases, acing out their U.S. and Japanese competitors in the process.
The researchers report today in the British journal Nature that they have compiled the first "physical map" of the human genome, the complete blueprint for the construction of a human being.
Their achievement comes at least two years ahead of the projected date for the completion of such a map by the American Human Genome Project, a 15-year, $3 billion project with a long-term goal of identifying the exact order of each of the 3 billion chemicals that compose the human genetic complement.
The physical map is an ordered collection of some 33,000 DNA fragments that contain the entire genome. It does not show the location of individual genes but provides a series of guideposts that help geneticists navigate their way through the genome in their search for the individual genes that cause disease.
While the map shows the equivalent of the location of individual states and cities, the Human Genome Project's ultimate goal is akin to identifying the location of every house in the United States.
"It's an important step forward," said molecular biologist Maynard Olson of the University of Washington. "It makes it much easier to do basic research on human biology."
"It will be an enormous practical boost to gene-hunters," added geneticist Francis Collins, director of the National Center for Human Genome Research in Bethesda.
The value of the physical map is that researchers can study families with an inherited disease to determine which DNA (deoxyribonucleic acid) fragment carries the defective gene responsible. Instead of having to search through the entire genome, researchers will be able to search through only a small area to find the actual gene.
The French team, headed by molecular biologist Daniel Cohen, general manager of the Center for the Study of Human Polymorphisms (CEPH) in Paris, will make the information contained in the physical map available at no cost, beginning today, on the Internet, the computer network that connects researchers around the world. A "condensed" version of the map, totaling between 300 and 600 pages, will be published by Nature early next year.
Today's paper in Nature merely announces the availability of the map and describes some of the philosophy and techniques used in its construction.
"By publishing a short account of their work as a Letter to Nature . . . Dr. Cohen and his colleagues have signaled their determination to make the map immediately available to anyone who may be able to help them refine it, as well as anyone who may need it in their own research," said John Maddox, editor of Nature.
The availability of the information will pre-empt the efforts of U.S. government researchers to patent it.