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Symposium Puts 'Gee' in Genome
Consortium Scientists Parse 'Book of Life'

By Rich McManus

Photos by Bill Branson

On the Front Page...

There was a time when Feb. 12 was pretty much known solely as Lincoln's Birthday. But as of this year, you might as well start calling it G-Day as well — the day a decade of international toil led to announcement of simultaneous publication, in both Science and Nature, of the nearly complete human genome: some 3 billion copies of scattered A's, T's, G's and C's that, since the authors imposed a freeze Oct. 7, 2000, for purposes of pausing to digest what they've found, resulted in a symposium in Masur Auditorium that lasted more than 3 hours, featured eight speakers, and updated the jam-packed crowd on newfound principles of their own human packaging, not to mention a shared molecular past.

Continued...

"What a day of celebration this is," enthused Dr. Francis Collins, director of the National Human Genome Research Institute and a leader of the international collaboration that produced the Nature paper. "This is the kind of occasion where one day you'll be able to tell your grandkids that you were in the auditorium on Feb. 12, 2001, to celebrate the first reading of the book of life."

NHGRI director Dr. Francis Collins emcees symposium in Masur.

Indeed the room's atmosphere was electric, as fire marshals struggled to find the few seats that remained almost a half hour before the symposium began. There were big, hearty greetings down front as members of the seven-country, 20-institution public consortium discovered one another. There were enough beards, ponytails and thoughtful spectacles to comprise a Bob Dylan tour as a sense filled the auditorium that its happy chatter is exactly what the leading edge of a breaking wave sounds like. It was genome rock 'n' roll, with Collins as the exhausted but still game impresario. Adding further to the charged atmosphere were stagehands roaming about with walkie-talkies, weirdly apt messages thrown onto the projection screen by computers in test mode (Information – Source is not present) and vaguely ominous microphone leakage into the public address system: "You don't really want to do that, do you?" exclaimed a disembodied male voice at one point. There was a whole lotta DNA in the room, and 99.9 percent of it was buzzing to the same vibe.

Dr. James Watson

Collins insisted that the event was a celebration of people, as in humanity, and pointed out that in a slide of the Nature cover — once it could be projected right-side up — were tiny human faces in the DNA helix, including those "if you look real hard" of Drs. James Watson and Francis Crick, whose discovery of the double helix in 1953 effectively launched the field of genomic investigation. The publication gala, Collins continued, "is really about all of us — it's our shared inheritance." He said the event "is much more substantive than the June announcement" at the White House, where representatives of both public and private sequencing initiatives met to announce their verging on a final draft of the human genome. "That event was more a marking of the odometer turning over. What we have here is a purely scientific symposium."

But before the talks could turn dense with terms like "GC content," "eutherian radiation" and "isochore bins," there was literal rock 'n' roll: Dr. Eric Green, a leading NHGRI sequencing scientist, prepared a slide show with music that annotated the history of the Human Genome Project, with many amusing asides. The soundtrack included the theme from Hollywood's Mission Impossible series, as well as Kool and the Gang's anthem "Celebrate."

The audience also heard from Crick via videotape from his laboratory at the Salk Institute; his serious 5-minute address concluded, "I can only hope that these remarkable powers...will lead to more good than evil." Crick's tone contrasted sharply with that of Watson, who appeared in person in Masur and delivered several outré observations. He cheerfully derided the "bad guys" who had opposed the Human Genome Project, congratulated himself on having coopted other opponents, but turned grave about the subject of the hunt: "There was no doubt that we would succeed...the only thing about competition is that you've got to take care not to lose, and we didn't lose."

Dr. Robert Waterston

Collins presented the Nobel Prize winner with a CD-ROM of the human genome sequence, hoping that one more honor among the many Watson has earned in his lifetime would not languish, "like so much junk DNA" in Watson's basement. "Our thanks to you," Collins concluded, "in the warmest possible way."

Then the science warmed up in a hurry. Dr. Robert Waterston of the Washington University Genome Sequencing Center explained details of the mapping and sequencing effort. Dr. Eric Lander, the ebullient leader of the Whitehead Institute for Genome Research, gave an impassioned interpretation of our "very lumpy genome," describing it as having "very different neighborhoods," and noting that the genome is both "a fossil record that one is able to interpret" as well as a still-life epidemiological cohort study.

Dr. Eric Lander

Lander said that while 1 to 1 ½ percent of the genome appears dedicated to actual genes, as determined by expression levels and evolutionary homology to known genes in other species, the so-called "junk DNA" or what he called "dark matter" could include "many more genes that we are yet unaware of." He said some 250 genes aren't of human lineage at all, but were derived from bacteria. "There will be surprises galore to find when the mouse, rat, pufferfish, and other genomes are sequenced and compared to the human," he said.

"Never in our lives have any of us worked with so many talented, wonderful people," Lander observed. He showed a color slide of planet Earth and said, "That's the only way to properly credit our work...This is a spectacular example of what happens when we all work together. We've got a long way to go, but we've made a good start here so far."

Dr. Aristides Patrinos
Jim Kent of UC-Santa Cruz

Other speakers on the program included Dr. David Altshuler of the Whitehead Institute, Dr. Barbara Trask of Fred Hutchinson Cancer Research Center, Dr. Mark Adams of Celera Genomics, Dr. Aristides Patrinos of the Department of Energy, and Jim Kent of the University of California at Santa Cruz, whose team has developed a web browser scientists can use to investigate the human genome on the Internet. The symposium was the leadoff event in a series that continues for the next few months. For more information about future talks, visit http://www.nhgri.nih.gov/CONF/.

Watson (r) accepts a CD-ROM containing the human genome sequence from Collins at the symposium held at NIH's Masur Auditorium.


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