Francis S. Collins, M.D., Ph.D., a physician-geneticist noted for his landmark discoveries of disease genes, and his visionary leadership of the Human Genome Project (HGP), is the former director of the National Human Genome Research Institute (NHGRI). Dr. Collins, served as NHGRI's director since April 1993. Beside leading the Human Genome Project to completion, he initiated a wide range of research projects that built upon the foundation laid by the sequencing of the human genetic blueprint.
As head of NHGRI, Collins oversaw the HGP, the multidisciplinary, multi-institutional, international effort to map and sequence the 3 billion letters in the human DNA instruction book. Many consider this project to have been the most significant scientific undertaking of our time. The ultimate goal is to improve human health.
With Collins at the helm, the HGP attained historic milestones, while consistently running ahead of schedule and under budget. A working draft of the human genome sequence was announced in June 2000, and an initial analysis was published in February 2001. HGP scientists finished the sequence in April 2003, coinciding with the 50th anniversary of Watson and Crick's seminal publication describing the double helix structure of DNA.
But the exploration of the genome is really just beginning. Building upon the foundation laid by the HGP, researchers around the globe are now collaborating on a wide range of projects that are using genomic tools and technologies to expand understanding of human biology and combat human disease.
NHGRI-supported initiatives currently include efforts to map human genetic variation, to develop less costly sequencing technologies and to unravel the genetics of cancer and other common diseases. Following the precedent set by the HGP under Collins' leadership, these projects are committed to making their data rapidly and freely available to the worldwide scientific community.
Raised on a small farm in Virginia's Shenandoah Valley, Collins was home-schooled until the sixth grade. Throughout most of his high school and college years, the aspiring chemist had little interest in what he then considered the "messy" field of biology. He earned a B.S. in chemistry at the University of Virginia in 1970 and 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. He changed fields and enrolled in medical school at the University of North Carolina, where he earned 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.
Tapped to take on the leadership of the HGP, Collins accepted an invitation in 1993 to 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), an intramural program of genome research that has developed into one of the nation's premier research centers in human genetics.
Collins was particularly excited by the rapid progress being made in uncovering genetic risk factors for common diseases, such as heart disease, cancer and mental illness. The windfall of findings was made possible by a relatively new research approach, called genome-wide association studies. This approach utilizes tools created by the HGP and the NHGRI-led International HapMap Project, which constructed a map of common human genetic variation.
Collins's work in his highly active lab demonstrated his commitment to research involving both rare and common diseases. In April 2003, a team led by Collins identified the genetic basis of Hutchinson-Gilford progeria syndrome, a rare disorder that causes a dramatic form of premature aging. Besides opening the door to possible treatment strategies for progeria, the discovery may provide insights into the process of normal human aging.
As for common disorders, Collins and his colleagues published a landmark study in the journal Science on genetic variants associated with type 2 diabetes. The findings boosted to at least 10 the number of genetic variants associated with increased susceptibility to the adult-onset form of diabetes, which affects nearly 21 million people in the United States and more than 200 million worldwide.
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 is 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 Nov. 5, 2007, Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research.
On August 1, 2008, Collins stepped down to explore writing projects and other professional opportunities.
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Last Reviewed: December 25, 2012