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). The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. ... The National Human Genome Research Institute (NHGRI) is a division of the National Institutes of Health, located in Bethesda, Maryland. ...

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. Space-filling model of a section of DNA molecule Deoxyribonucleic acid (DNA) or deoxyribose nucleic acid is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life (and many viruses). ...

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. Canoeing on the Shenandoah River near Winchester, Virginia. ... The University of Virginia (also referred to as UVa and often called simply Virginia for short) is a research university in Charlottesville, Virginia. ... This article is about the institution of higher learning in the United States. ... Space-filling model of a section of DNA molecule Deoxyribonucleic acid (DNA) or deoxyribose nucleic acid is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life (and many viruses). ... Ribonucleic acid (RNA) is a nucleic acid consisting of a string of covalently-bound nucleotides. ... Molecular biology is the study of biology at a molecular level. ... Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. ... The University of North Carolina, often called the University of North Carolina System to avoid confusion, is a federation of all sixteen public universities in North Carolina. ...

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. Chapel Hill may refer to: Chapel Hill, Queensland, a town in Australia Chapel Hill, North Carolina, a town in the United States, or the University of North Carolina at Chapel Hill, a major university within the town. ...

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. University of Michigan, Ann Arbor The University of Michigan, Ann Arbor is a public coeducational university located in Ann Arbor, Michigan. ...

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. In medicine, the neurofibromatoses (singular, neurofibromatosis) are certain genetic disorders of the nervous system. ... Leukemia (leukaemia in Commonwealth English) is a group of blood diseases characterized by malignancies (cancer) of the blood-forming tissues. ...

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. There are different forms of heart disease: Coronary heart disease Ischaemic heart disease Cardiovascular disease The study of heart disease is Cardiology This is a disambiguation page — a navigational aid which lists other pages that might otherwise share the same title. ... When normal cells are damaged or old they undergo apoptosis; cancer cells, however, avoid apoptosis. ... The Scream, the famous painting commonly thought of as depicting the experience of mental illness. ... A Single Nucleotide Polymorphism or SNP (pronounced snip) is a DNA sequence variation, occurring when a single nucleotide: adenine (A), thymine (T), cytosine (C) or guanine (G) - in the genome is altered. ... See diabetes mellitus for further general information on 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. The Institute of Medicine, a part of the National Academy of Sciences, is an American organization whose purpose is to provide national advice on issues relating to biomedical science, medicine, and health (National Academy of Sciences, n. ... The National Academy of Sciences (NAS) is a corporation in the United States whose members serve pro bono as advisers to the nation on science, engineering, and medicine. ...

External links

• Information from genome.gov