Genomic Researchers on Frontier
Of Discoveries Changing Medicine

Washington, D.C.--This year's mapping of the human genome - one of the greatest scientific developments - places researchers at the edge of a new frontier that's already yielding medical breakthroughs and shows promise for many others, scientists said at a September 25 conference at AAAS.

Researchers Craig Venter, Thomas Cech, and Claire Fraser (left to right) discuss the latest developments in genomic research at a September 25 conference at AAAS.

"We are very much in the descriptive stages of biology," said Craig Venter, founder and President of Celera Genomics, a Maryland-based genomic information company that in the February 16 issue of Science published news of its completion of assembly of the human genome. Rejecting terms ascribed to the human genome such as the "Book of Life" or "Blueprint of Humanity," he described the genome as "an index or table of contents to a vast encyclopedia of information" about the recorded history of our species and said that 95 percent of new discoveries about human biology remain to be made.

Venter and other researchers on the cutting edge of genome technologies spoke at the day-long event-sponsored by the AAAS Advancing Science Seminar Series-about the ways that completion of the human genome sequence has revolutionized approaches to disease. Moderating the first half of the conference was Victor McKusick, University Professor of Medical Genetics in the Johns Hopkins University School of Medicine. McKusick, a world-renowned authority in genetic medicine and the founding president of the Human Genome Organization, is often referred to as "the father of medical genetics."

The assembled speakers cautioned that genome-based medical breakthroughs such as cures for cancer would take time, even though, as Venter noted, "the discoveries are taking place that are driving medicine." Among those discoveries is Repifermin, a drug for non-healing wounds such as venous ulcers and ulcerative colitis that don't respond to other medicines, said Steve Rubin, Vice President for Research at Human Genome Sciences, a firm that discovers and develops gene-based drugs. Now in the clinical trial stages, Rubin said, Repifermin is an example of how genomics can accelerate the drug discovery process and lead to better clinical candidates, fewer clinical failures, and more breakthrough medicines.

Information from genome sequencing is already helping with detection and diagnosis of infectious disease, identification of new drug targets, and development of vaccines, according to Claire Fraser, President and Director of The Institute for Genomic Research who led the Institute's work in sequencing microbial organisms. Fraser said genome research is also giving scientists insight into the layers of biological understanding of cellular mechanisms. It will also be useful in industrial processes such as fermentation and energy production and has influenced researchers' thinking about evolutionary analysis.

Genomic research will especially help researchers understand and treat infectious diseases, which along with parasitic diseases are the second leading cause of death worldwide, Fraser said. She added that pathogen genome sequencing is leading to new tools in the fight against disease, and that complete microbial sequence data can accelerate vaccine development.

"Genome analysis provides new insights into the biology of microbial species," she said.

The genomics revolution has also led to a new era of discovery of genetic data in which scientists are working to get more precise information about people's health and their predisposition to illness and disease, said Richard Klausner, former director of the National Cancer Institute. Klausner said that one way to diagnose cancer now is via molecular profiling, in which scientists and physicians read patterns of genome expressions and predict a patient's response to therapy.
Aravinda Chakravarti, director of the Johns Hopkins School of Medicine's McKusick-Nathans Institute for Genetic Medicine, also noted that cancer researchers need to look at small changes in molecules and proteins if they want to develop new drug therapies.

This new era of genomic research has also galvanized the Howard Hughes Medical Institute to launch a new, 281-acre biomedical research campus in Virginia called Janelia Farm. Thomas Cech, the Institute's Nobel Prize-winning President, said that when completed the new facility will allow researchers to create new tools such as instrumentation and also disseminate technologies by opening the campus to engineers, biochemists, and other scientists from across disciplines. Cech noted that universities emphasize individual accomplishment as a research model, but said that the Janelia Farm facility will emphasize collaboration among scientists from various areas of expertise around the world.

"The vision really is to create a community of scholars," Cech said.

Several of the speakers soberly alluded to the implications of their work in light of the September 11 terrorist attacks on the World Trade Centers and the Pentagon building. Venter has since lent his expertise to the field of forensic medicine by helping doctors use DNA testing to identify those killed in the World Trade Center attacks. Fraser said researchers need to use their knowledge to work on a "web of deterrence" to fight biological terrorism.

Speakers also said genome research will oblige researchers to wrestle with ethical issues such as potential discrimination based on one's genetic profile; public education for people as they learn about their genetic heritage; and the need to work with governments to help wrest control of drugs from insurance companies and make new medicines affordable to those who need them.

Recordings of all talks from this conference are expected to be available to AAAS members in video, audio, and print transcript formats by November 20 via http://aaasmember.org.

--Peggy Dillon and Nisha Narayanan