Government Gene Guru Resigns

| May 28, 2008

May 28 (Bloomberg) — Francis Collins, who led the U.S. government effort to decode the body’s DNA blueprint, will step down as head of the National Human Genome Research Institute effective Aug. 1, the agency said.

Collins, 58, helped identify the gene linked to cystic fibrosis in 1989, and in 1993 helped identify DNA tied to Huntington’s disease. That same year, Collins was named head of the Human Genome Project and, in 2001, the project published a first draft that identified all 2 billion or so letters that make up the human genetic code.

By providing access to the full catalogue of human genes, scientists have been able to identify variations linked with common and inherited diseases. Researchers have used those results to create medicines such as Tarceva, the Genentech Inc. lung cancer drug developed after a DNA mutation was found to be linked to the tumors. Variations in more than 100 genes have been linked to about 20 diseases, researchers have said.

"The study of the human genome has completely transformed medical research, and is on the way to transforming clinical practice,” Collins said in a telephone interview today, when asked what he is proudest of from his tenure at the National Institutes of Health.

Alan Guttmacher, the institute’s current deputy director, will become acting director on Aug. 1, said NIH director Elias Zerhouni in am e-mailed statement announcing Collins’ decision to leave the agency.

`No Heir Apparent’

Bert Vogelstein, professor of oncology and pathology at the Johns Hopkins School of Medicine in Baltimore, said there is "no heir apparent, no one who can easily swoop into the void” left by Collins’ departure. " Francis has both the scientific credentials and an amazing ability to bring people together,” Vogelstein said. “He could really explain what was important in understandable terms.”

In the late 1990s and early 2000s, Collins’ institute raced against a private company, Celera Genetics, led by Craig Venter, to be the first to publish the genome. A full analysis was completed by Collins’ group in April 2003.

Collins, who grew up on a small farm in Virginia and was home-schooled until the sixth grade, got an undergraduate degree in chemistry from the University of Virginia, a doctorate in physical chemistry for Yale University and medical degree from the University of North Carolina. He served on the faculty at the University of Michigan until joining the NIH in 1993.

While at Michigan, he collaborated with researchers at the Hospital for Sick Children in Toronto, Canada, on the gene for cystic fibrosis and Huntington’s.


Collins’ work at the institute made him "an extraordinary leader in developing tools and applications and insights into what makes us who we are,” said W. Ian Lipkin, a professor of epidemiology at Columbia University’s Mailman School of Public Health in New York, in a telephone interview.

Lipkin was the first to identify the West Nile Virus in the U.S. using genetic technology, and recently isolated one of the causes of a malady killing honeybees using gene sequencing technology created by Roche Holding AG.

"What’s not as well-known is that he set the stage for a whole series of projects which followed on the heels of the human genome sequence, and now are probably some of the most valuable studies ongoing in biomedical research,” Vogelstein said. "The whole idea of having several labs undertake these projects is a different way of doing biomedical science, and you can largely attribute that to Francis as the leader.”

Category: Genetics

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