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 director of the National Human Genome Research Institute (NHGRI).

As head of NHGRI, Collins has overseen the HGP, the multidisciplinary, multi-institutional, international effort to map and sequence all of the human DNA and then determine aspects of its function. Many consider this project to be the most significant scientific undertaking of our time. The ultimate goal is to improve human health.

With Collins at the helm, the HGP has 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 are continuing 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.

Perhaps more importantly, Collins' unswerving commitment to free, rapid access to genomic information made all data immediately available to the worldwide scientific community without restrictions on access or use. With these immense data sets of DNA sequence and variation in hand, researchers around the globe are now equipped to accelerate the process of understanding the connection between genes and disease, which Collins envisions as a new era of individualized, prevention-oriented medicine.

Beginnings

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 to1984. 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.

Leadership at NHGRI

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.

With new tools arising from the human genome project, 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 "hap map" will serve as a catalog of genetic variations - called single nucleotide polymorphisms (SNPs) - and will help with discovering how these variations correlate with disease risk. 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 II 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.

(Information from http://www.genome.gov/10001018)