Francis Collins

        Science | American Biologists

Collins, Francis (1950-) is an American physician and geneticist who in the late 1900's became recognized as one of the most important and talented figures in the field of medical genetics. In 1993, he was appointed director of the National Human Genome Research Institute (NHGRI), which oversees the role of the United States in mapping the human genome.

Francis Sellers Collins was born in Staunton, Virginia. He was raised on a farm and home-schooled by his mother until the sixth grade. Collins studied chemistry at the University of Virginia and earned a Ph.D. degree in physical chemistry from Yale University in 1974. He switched career tracks in 1974, when he began to study medicine at the University of North Carolina. Collins received his M.D. degree in 1977, and subsequently completed his internship and residency at North Carolina Memorial Hospital. He then received a fellowship in human genetics and pediatrics and worked at Yale University School of Medicine for three years. Collins then taught and conducted research at the University of Michigan from 1984 to 1993.

Collins's work in identifying and locating genes that cause disease in humans has brought him a reputation as one of the most important and talented figures in the field of medical genetics. As a researcher, Collins first gained fame for his development in the 1980's of a gene-finding method called positional cloning. This method uses the inheritance pattern of a disease within a family to map the location of a gene that causes a hereditary disease to a specific chromosome. This technique revolutionized the field of human gene mapping and has helped researchers locate several disease-linked genes. Collins and his colleagues have used the technique to locate the genes that play a role in such potentially lifethreatening hereditary diseases as cystic fibrosis (CF), neurofibromatosis, and Huntington's disease. In 1995, an international consortium to which Collins belongs used positional cloning to isolate the gene responsible for ataxia telangiectasia (A-T). The discovery of the CF gene in 1989 was a landmark in genetics research, ranking as the first time that a gene had been mapped on a chromosome and its biochemical processes determined without any background information on the gene.

For his extraordinary achievements, his admirable leadership style, and his genuine concern about important ethical issues regarding genetics, Collins was appointed director of the National Human Genome Research Institute (NHGRI), a division of the National Institutes of Health, in 1993. Collins succeeded James Dewey Watson, a Nobel Prize-winning biologist who in 1953 codiscovered the structure of DNA.

As director of the NHGRI, Collins oversees the United States role in the Human Genome Project, the international effort to map the human genome (the complete set of genes in a cell). The Human Genome Project began in 1990 as a program to determine the entire set of chemical instructions that control heredity in human beings and certain other organisms. Scientists believe that by understanding the human genome, they will be better able to find and understand the connection between genes and disease. This knowledge will launch a revolution in the field of medicine. It will lead to individualized preventative medicine, in which individuals will take a genetic test and then receive medication or preventative therapy based on their personal genetic makeup. It will also lead to the development of more effective drugs and therapies based on a deeper understanding of the mechanics of disease.

In addition to mapping the human genome, the project is also designed to develop technologies that will aid researchers and physicians in analyzing information garnered from genetic tests. The project also promotes training a corps of scientists to utilize the technology and resources developed through the project in ways to improve human health.

Another important component of the Human Genome Project is the examination of the possible ethical, social, and legal issues that may result from human genome research. Collins has been at the forefront of such issues, which include questions of how people will use their own genetic information and the genetic information of others.

Collins has also sought to ensure public access to the findings of the project, so that researchers around the world can use it to advance knowledge about genetic? and its practical applications.