Francis Collins (geneticist)

From Wikipedia, the free encyclopedia

Francis S. Collins
Francis Collins at the National Human Genome Research Institute
Born	April 14, 1950 (1950-04-14) (age 58) Staunton, Virginia, United States
Institutions	University of Michigan National Human Genome Research Institute
Alma mater	University of Virginia Yale University University of North Carolina at Chapel Hill
Known for	positional cloning Human Genome Project

Francis S. Collins (born April 14, 1950), M.D., Ph.D., is an American physician-geneticist, noted for his landmark discoveries of disease genes, and his leadership of the Human Genome Project (HGP). He will be director of the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers that make up the National Institutes of Health in Bethesda, Maryland until August 1, 2008 (he announced his resignation on May 28, 2008).

With Collins at the helm, the HGP has attained several milestones, while running ahead of schedule and under budget. A working draft of the human genome was announced in June 2000, and Collins was joined by US President Bill Clinton and rival biologist Craig Venter in making the announcement.^[1] Venter and Collins thus shared the "Biography of the Year" title from A&E Network.^[2] An initial analysis was published in February 2001. HGP scientists continued to work toward finishing the sequence of all three billion base pairs by 2003, coinciding with the 50th anniversary of Watson and Crick's seminal publication of the structure of DNA. In 2005 Collins and Venter were also honored as two of "America's Best Leaders" by U.S. News & World Report and the Harvard Center for Public Leadership ^[3] Collins's commitment to free, rapid access to genomic information helped to make all data immediately available to the worldwide scientific community. With these data sets of DNA sequence and variation in hand, researchers around the globe work on the process of understanding the connection between genes and disease. Collins envisions as a new era of individualized, prevention-oriented medicine.

1 Early years
2 Leadership at NHGRI
3 Religious views
4 Quotations
5 References
6 External links

[edit] Early years

Raised on a small farm in Virginia's Shenandoah Valley, Francis Sellers Collins was home-schooled by his mother until the sixth grade. He is the youngest of four sons, which includes his brother, Dr. Fletcher Collins, who currently holds the title of "Assistant Head of Middle School" and "Director of Curriculum" at Collegiate School in Richmond, Virginia. Throughout most of Francis's high school and college years, the aspiring chemist had little interest in what he then considered the "messy" field of biology. What he refers to as his "formative education" was received at the University of Virginia, where he earned a B.S. in Chemistry in 1970. He went on to attain a Ph.D. in physical chemistry at Yale University in 1974. While at Yale, however, a course in biochemistry sparked his interest in the molecules that hold the blueprint for life: DNA and RNA. Collins recognized that a revolution was on the horizon in molecular biology and genetics. After consulting with his old mentor from the University of Virginia, Carl Trindle, he changed fields and enrolled in medical school at the University of North Carolina at Chapel Hill, earning there an M.D. in 1977.

From 1978 to 1981, Collins served a residency and chief residency in internal medicine at North Carolina Memorial Hospital in Chapel Hill. He then returned to Yale, where he was named a Fellow in Human Genetics at the medical school from 1981 to 1984. During that time, he developed innovative methods of crossing large stretches of DNA to identify disease genes.

After joining the University of Michigan in 1984 in a position that would eventually lead to a Professorship of Internal Medicine and Human Genetics, Collins heightened his reputation as a relentless gene hunter. That gene-hunting approach, which he named "positional cloning," has developed into a powerful component of modern molecular genetics.

In contrast to previous methods for finding genes, positional cloning enabled scientists to identify disease genes without knowing in advance what the functional abnormality underlying the disease might be. Collins' team, together with collaborators, applied the new approach in 1989 in their successful quest for the long-sought gene responsible for cystic fibrosis. Other major discoveries soon followed, including isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, and the M4 type of adult acute leukemia.

[edit] Leadership at NHGRI

Tapped to take on the leadership of the HGP, Collins accepted an invitation in 1993 to succeed James Watson and become director of the National Center for Human Genome Research, which became NHGRI in 1997. As director, he oversees the International Human Genome Sequencing Consortium and many other aspects of what he has called "an adventure that beats going to the moon or splitting the atom."

In 1994, Collins founded NHGRI's Division of Intramural Research (DIR), a collection of investigator-directed laboratories that conduct genome research on the NIH campus and that has developed into one of the nation's premier research centers in human genetics.

With new tools arising from the human genome project and technology development studies supported by the genome institute, Collins is optimistic about the chances of uncovering hereditary contributors to common diseases, such as heart disease, cancer and mental illness. In the overall research agenda of NHGRI, this interest is reflected in the highly ambitious effort to construct a haplotype map of the human genome. The now-completed "hap map" project produced a catalog of genetic variations - called single nucleotide polymorphisms (SNPs) - which is now being widely used to discover genetic variations correlate with disease risk. There was a dramatic increase of published scientific papers linking genetic variations to common illnesses in 2007. Collins's work in his highly active lab demonstrates that research emphasis, which is devoted to finding the genes that contribute to adult-onset, Type 2 diabetes.

In addition to his long list of contributions to basic genetic research and scientific leadership, Collins is known for his close attention to ethical and legal issues in genetics. He has been a strong advocate for protecting the privacy of genetic information and has served as a national leader in efforts to prohibit gene-based insurance discrimination. Building on his own experiences as a physician volunteer in a rural missionary hospital in Nigeria, Collins is also very interested in opening avenues for genome research to benefit the health of people living in developing nations.

Collins' accomplishments have been recognized by numerous awards and honors, including election to the Institute of Medicine and the National Academy of Sciences. On Monday, November 5, 2007, he received the Presidential Medal of Freedom from U.S. President George W. Bush. He was also present at the bill signing for the Genetic Information Nondiscrimination Act in the Oval Office, in recognition of his work in genetics, and his early papers and commentary on the need for such protections[1].

On May 28, 2008, Collins announced his intention to step down from his post as NHGRI director on August 1, 2008 to explore writing projects and other professional opportunities[2].

[edit] Religious views

Collins has described his parents as "only nominally Christian" and by graduate school he considered himself an atheist. However, dealing with dying patients led him to question his religious views, and he investigated various faiths. He became an evangelical Christian after observing the faith of his critically ill patients and reading Mere Christianity by C. S. Lewis.^[4]

In his 2006 book The Language of God: A Scientist Presents Evidence for Belief, Collins considers scientific discoveries an "opportunity to worship." In his book Collins examines and subsequently rejects creationism and Intelligent Design. His own belief system is Theistic Evolution (TE) which he prefers to term BioLogos. BioLogos rests on the following premises:

The universe came into being out of nothingness, approximately 14 billion years ago.
Despite massive improbabilities, the properties of the universe appear to have been precisely tuned for life.
While the precise mechanism of the origin of life on earth remains unknown, once life arose, the process of evolution and natural selection permitted the development of biological diversity and complexity over very long periods of time.
Once evolution got under way no special supernatural intervention was required.
Humans are part of this process, sharing a common ancestor with the great apes.
But humans are also unique in ways that defy evolutionary explanation and point to our spiritual nature. This includes the existence of the Moral Law (the knowledge of right and wrong) and the search for God that characterizes all human cultures throughout history.

In an interview with National Geographic published in February 2007, interviewer John Horgan, an agnostic journalist, criticized Collins' description of agnosticism as "a cop-out". In response, Collins clarified his position on agnosticism so as not to include "earnest agnostics who have considered the evidence and still don't find an answer. I was reacting to the agnosticism I see in the scientific community, which has not been arrived at by a careful examination of the evidence. I went through a phase when I was a casual agnostic, and I am perhaps too quick to assume that others have no more depth than I did."^[5]

During a debate with Richard Dawkins, Collins stated that God is the object of the unanswered questions about the universe that science does not ask, and that God himself does not need an explanation since he is beyond the universe. Dawkins called this "the mother and father of all cop-outs" and "an incredible evasion of the responsibility to explain." ^[6]

Dr. Collins remains firm in his rejection of Intelligent Design, and for this reason was not asked to participate in the 2008 documentary Expelled: No Intelligence Allowed, which tries, among other things, to draw a direct link between evolution and atheism. Walt Ruloff, a producer for the film, claimed that Dr. Collins was "toeing the party line" by rejecting Intelligent Design, which Collins called "just ludicrous." ^[7]

[edit] Quotations

"Evolution is God's way of giving upgrades" (Stephen Colbert Interview, December 7, 2006)
"I concluded at the age of 15 or 16 that I had no interest in biology, or medicine, or any of those aspects of science that dealt with this messy thing called life. It just wasn't organized, and I wanted to stick with the nice pristine sciences of chemistry and physics, where everything made sense."
"I wish I had learned sooner that biology could be fun as well."
(When asked, "What do you say to your fellow Christians who say, 'Evolution is just a theory, and I can't put that together with my idea of a creator God'?") "Well, evolution is a theory. It's a very compelling one. As somebody who studies DNA, the fact that we are 98.4 percent identical at the DNA level to a chimpanzee, it's pretty hard to ignore the fact that when I am studying a particular gene, I can go to the mouse and find it's the similar gene, and it's 90 percent the same. It's certainly compatible with the theory of evolution, although it will always be a theory that we cannot actually prove. I'm a theistic evolutionist. I take the view that God, in His wisdom, used evolution as His creative scheme. I don't see why that's such a bad idea. That's pretty amazingly creative on His part. And what is wrong with that as a way of putting together in a synthetic way the view of God who is interested in creating a group of individuals that He can have fellowship with -- us? Why is evolution not an appropriate way to get to that goal? I don't see a problem with that."^[8]

"Yes, evolution by descent from a common ancestor is clearly true. If there was any lingering doubt about the evidence from the fossil record, the study of DNA provides the strongest possible proof of our relatedness to all other living things."