Leader of the Human Genome Project and recipient of the Presidential Medal of Freedom A recipient of the Presidential Medal of Freedom, Francis Collins has made landmark discoveries of disease genes and led the Human Genome Project (HGP), an international multidisciplinary scientific enterprise to map and sequence all of the human DNA. All the data from the HGP is freely available to the scientific community without restrictions and has provided the foundation of many advances in biology and medicine. Dr. Collins has also led efforts to ensure that the HGP is translated into tools and strategies to advance biological knowledge and improve human health.
- Occupation: Physician-geneticist, leader of the Human Genome Project.
- Alternative career choice: Author, musician.
- Musical Instrument I Play: Guitar, piano.
- I tend to approach life: With a sense of optimism.
- Biggest misconceptions about me or my work: I sequenced the entire genome myself — it was done by 2,500 people I had the privilege of leading.
- Worst part-time job ever: Burger-flipping for $1/hour when I was 14.
- Longest med school study session: Twenty-four hours straight, studying for second-year finals.
- Best moment in medicine/research: Completing the human genome sequence.
More recently, Dr. Collins weighed in on the controversial topic of science and faith, publishing the best-selling book The Language of God: A Scientist Presents an Argument for Belief.
Dr. Collins succeeded the legendary James D. Watson, half of the Watson-Crick team that discovered the shape of DNA, as Director of the National Center for Human Genome Research in 1993. Collins came to the National Institutes of Health to take over the fledging Human Genome Project (HGP). Already a renowned researcher for co-discovering the cause of cystic fibrosis, Collins arrived in Bethesda, Maryland, with cowboy boots, shaggy hair, and a guitar in the back seat of his aging auto, wondering how he’d convert his experience running a medium-sized research lab at the University of Michigan into managing something as big and controversial as the HGP.
In the years that followed, Collins learned to navigate the halls of Congress, walk the White House power corridors, and do public battle with private companies trying to steal the genome project. He cajoled independent researchers into a functioning team and convinced international scientists to play key roles in the effort.
Science reporters compared the genome project to landing on the moon, except that everyone could take a look around the genome once it was in the public databases, and the knowledge promised to be immediately useful; medical leaders hoped it would even revolutionize health care. The government-led researchers finished the HGP in April 2003, under budget and ahead of schedule. The private companies had given up.
Even as he managed the HGP, Collins, who is a physician but also has a doctorate in physical chemistry, continued his own research, driving the agenda forward to applications of the results of the genome project to sick people. Few illnesses are more heartbreaking than kids born with progeria, more properly called Hutchinson-Gilford progeria syndrome. A single letter mistake in a single gene causes accelerated aging, turning little children into biological octogenarians. Many die from heart disease or stroke before they’re teenagers.
Collins’ lab took a research risk (it was a hard problem with no clues to guide them) and, with a bit of luck, found the genetic mistake that causes progeria. It turned out that this glitch damages an already well understood biological pathway that controls how the nucleus of the cell functions. By good fortune, cancer researchers had been experimenting with a drug that influenced the same pathway, suggesting a treatment might be near at hand. The Collins team created a strain of mice with the same broken gene that caused many of progeria’s symptoms. They tested the drug in the progeria mice and it provided dramatic benefit. Now, Collins’ collaborators are testing the drug in children with progeria; it will take a few years to see if the treatment lengthens their lives, but for the first time there is hope.
The power of that genetic discovery might just transform a universally fatal disease into a treatable illness in just half a dozen years—but it’s still a rare disease. Collins wants to do the same for common diseases, like cancer, heart disease, Alzheimer’s disease, and diabetes.
To help solve the mysteries of hereditary factors in common illnesses, Collins led the National Human Genome Research Institute—he got the center promoted to an NIH institute—into a series of worldwide studies to understand human genetic variation. The genome project showed people are about 99.6% the same genetically; the much sought after differences in disease risk lie in the remaining 0.4%.
In just the last two years, these powerful new tools have led to the discovery of more than 100 genetic risk factors for common disease; Science magazine called this the “Breakthrough of the Year” in all of science in 2007. By understanding the genetic underpinnings of disease risk, doctors and patients will be better able to prevent common illnesses. If disease strikes, treatment can be offered with medications geared to the individual patient’s genetic makeup. No more one-sizefits-all treatments; personalized medicine will be the future. At least, that’s Collins’ vision.