Human Genome Project leader gives talk at U.Va.

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Dr. Francis Collins

By Fariss Samarrai

“We are on the brink of a revolution in the practice of medicine,” said alum-
nus Dr. Francis Collins, the physician-geneticist who heads the international Human Genome Project. “We are shining light into the darkness and unraveling the mysteries of the diseases that fill our hospitals and clinics. We now are about to begin the difficult work of turning our knowledge of the human genome into therapy.”

Collins spoke Nov. 1 to a full house of students and faculty at the Newcomb Hall Theater. A 1970 graduate of the University and director of the National Institutes of Health’s National Human Genome Research Institute, Collins oversees the three-year, publicly funded research effort to map and sequence all of the human DNA genetic code, a project that has been called the most important scientific undertaking of our era. Its aim is to help understand the basis of genetic diseases and gain insight into human evolution.

“When I started with this project, many people had never heard of it,” he said. “Now, when I’m on a plane and mention it, about two-thirds of the people I meet know of the Human Genome Project.”

Slated for completion in 2003, ahead of its original schedule, the international scientific effort has already produced a draft human genome, or map to the human organism’s genes and DNA, that promises to have profound implications for medical and drug research.

Collins said there is growing evidence that a person’s particular response to a therapy may be genetically encoded, meaning that some drugs for certain diseases may work better for some people than others. “If we can know the genotype of a disease, we can pick a drug that is most effective for disease treatment in a particular person,” he said. “We will be able to design drugs that can go to the heart of the problem for precise and highly effective treatment.”

Collins said there currently are about 100 drugs in clinical trials that are based on a molecular understanding of disease rather than simply on treating symptoms. He said knowledge gained from the Human Genome Project will help scientists identify genes that contribute to disease risk, allowing doctors to predict risk before a patient actually develops the disease. He estimates that genetics-based health care “will be the norm” within about 30 years.

“Up to this point we have had a pretty profound ignorance of disease,” he said. “We have mostly been describing disease and treating symptoms. By creating this draft map of the genome, we are moving to the part where we are turning facts into wisdom.” Collins described the map of the human genome as “the book of life,” in draft form, and predicted that understanding it will lead to methods of anticipating disease, and to highly precise therapies for directly treating or blocking the onset of disease at the genetic level.

Raised on a small farm near Staunton and home-schooled until the sixth grade, Collins entered U.Va. at 16 and received his undergraduate degree in chemistry.

He earned his Ph.D. in chemistry at Yale and then, sensing a revolution was under way in molecular biology and genetics, enrolled in medical school at the University of North Carolina.

Working in medical genetics and identification of disease genes, Collins joined the faculty at the University of Michigan in 1984. His ideas and approaches led to the development of new scientific tools for identifying genetic abnormalities.

In 1989 his strategies led to identifying the gene for cystic fibrosis and to further successful collaborations in identifying other disease genes. In 1993, he became the second director of the National Center for Human Genome Research, following James Watson, co-discoverer of the structure of DNA.

“It was here at U.Va. where I was first given the glorious opportunity to investigate the unknown,” Collins said. “My formative education occurred at U.Va., and I was able to take advantage of the supportive education offered here.”

He gave special thanks to U.Va. chemistry professor Carl Trindle, who had introduced Collins to the audience. “Carl Trindle was my mentor and the one who got me excited about science,” Collins said. Trindle was Collins’ fourth-year chemistry instructor.

Collins’ accomplishments have garnered numerous honors, including his election to the Institute of Medicine and National Academy of Sciences. Earlier this year he was named a Virginia Outstanding Scientist of the Year by the Science Museum of Virginia.

Collins visited classes and spent time with students and faculty during his visit at U.Va. The program was presented by Brown College, the Forum for Contemporary Thought, the Medical Center Hour, the Institute for Practical Ethics, and the departments of biology and chemistry.