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Francis Collins, M.D., Ph.D. is a geneticist and physician from the United State who helped discover many genes that cause disease while leading the Human Genome Project. He directs the National Institutes of Health and is the recipient of many esteemed awards for his contributions to genetics. Dr. Collins has written several books, including The Language of God: A Scientist Presents Evidence for Belief, a bestseller.

Young Life and Education

Francis Sellers Collins was born on April 14, 1950, in Staunton, Virginia, as the last of four sons to parents Fletcher and Margaret Collins.[1][2] Fletcher Collins held a Ph.D. in English and taught at the local college. He also ran the family farm and raised livestock. Margaret Collins homeschooled Francis until the sixth grade. He showed interest in chemistry during high school and graduated at only 16-years-old. In 1966, Francis S. Collins enrolled in the University of Virginia, Charlottesville and, in 1970, graduated with a Bachelors of Science in chemistry. In 1974, he received a Ph.D. in physical chemistry from Yale University in Connecticut. He was mentored by Walter Gilbert, who later won the 1980 Nobel Prize in Chemistry. He then enrolled in the University of North Carolina, Chapel Hill Medical School in 1974. In his final year, Collins first learned about investigations into human genetics before graduating in 1977. He completed his internship and residency at Chapel Hill’s North Carolina Memorial Hospital.[3]

Early Medical Career

Dr. Francis Collins joined Yale University School of Medicine as a pediatrics and human genetics fellow for three years after finishing his residency. He accepted the position as an assistant professor at the University of Michigan Medical School in 1984, where he taught human genetics and internal medicine. Both departments made him their chief from 1987 to 1991. He became an associate professor in 1988, around the same time he started researching.[4]

Researching Genes

Dr. Francis S. Collins began work at the Howard Hughes Medical Institute in 1987 as an assistant investigator before being promoted to an official investigator from 1991-1993.[5] He worked in Sherman Weissman’s laboratory with the hemoglobin, the best model for human molecular genetics at the time. In 1984, Dr. Collins published his first revolutionary article regarding the fetal hemoglobin’s hereditary persistence and thalassemia. “Directional Cloning of DNA Fragments at a Large Distance from an Initial Probe: A Circularization Method” was published in the Proceedings of the National Academy of Sciences. Dr. Collins used “chromosomal jumping” in order to achieve “positional cloning,” the term he coined for the technique that allows modern geneticists to identify genes for almost every known pathological condition without needing to know the previous functional abnormality.[6][7]

Dr. Francis Collins made the discovery of the human genome possible with his early studies of “positional cloning.”

Dr. Collins joined with Lap-Chee and other researchers in Toronto, Canada, at the Hospital for Sick Children and, in 1989, they successfully identified gene causing cystic fibrosis. Their first discovery was quickly followed by a second in 1990, the identifying of the gene causing neurofibromatosis. More success came in 1993 when the research team paired with the Huntington’s Disease Research Group located across England, Wales, and the United States, that led to the identification of the gene for Huntington’s Disease. They also discovered the gene causing Multiple Endocrine Neoplasia Type 1.[8]

National Center for Human Genome Research (NHGRI)

In 1993, the National Center for Human Genome Research invited Dr. Francis S. Collins to be their director. The name changed in 1997 to the National Human Genome Research Institute (NHGRI). He directs the International Human Genome Sequencing Consortium and other projects. Dr. Collins founded the Division of Intramural Research (DIR) for the NHGRI in 1994 and it remains one of the most prestigious human genome research centers.[9] Dr. Collins announced in June 2000 with Craig Venter, a biologist, and U.S. President Bill Clinton a draft mapping of the human genome. In February 2001, they published their first analysis and worked to finish their research prior to 2003. They marked the 50th anniversary of the discovery of DNA by Francis Crick and James Watson by announcing the completion of the International HapMap project.[10] In April 2003, Dr. Francis Collins and his team discovered the genetic cause of Hutchinson-Gilford progeria syndrome, a rare disease that causes premature aging, which also revealed information regarding the human aging process. The team also published an article in Science regarding genetic variations occurring with Type 2 Diabetes. They discovered at least ten different variants that contribute to the onset of diabetes as an adult using the single-nucleotide polymorphisms, cataloged during the International HapMap Project.[11]

The National Institute of Health and Later Career

Dr. Francis Collins was awarded the Presidential Medal of Freedom from the U.S. government on November 5, 2007, for his contributions to the field of genetic research.[12] U.S. President Barack Obama announced Dr. Collins’s nomination as Director for the National Institutes of Health on July 8, 2009.[13]

Dr. Francis S. Collins book, The Language of God: A Scientist Presents Evidence for Belief, was well-received by many, but also condemned by others.

On December 23, 2011, Dr. Collins helped establish the National Center for Advancing Translational Sciences, and other major scientific projects working on the brain and Alzheimer’s research.[14] In June 2013, he created a plan to significantly decrease the number of chimpanzees used for biomedical research paid supported with NIH funds.[15] Dr. Francis S. Collins has also written several books, including his best-selling title, The Language of God: A Scientist Presents Evidence for Belief, which caused some controversy for him as director of the NIH.[16]

References

Bibliography

Collins, F. S. (2007). The Language of God: A Scientist Presents Evidence for Belief. New York: Simon & Schuster Adult Publishing Group.


NHGRI. (2015, September 25). Former NHGRI director Francis Collins’ Biography. National Human Genome Research Institute.[1]

Rosenberg, L. E. (2006). Introductory Speech for Francis S. Collins - Presented on October 28, 2005. The American Journal of Human Genetics, 79(3), 419–420. doi:10.1086/500276[2]

Shampo, M. A., & Kyle, R. A. (2010). Francis S. Collins—Human Genome Project. Mayo Clinic Proceedings, 85(9), e66–e67. doi:10.4065/mcp.2010.0495[3]

Footnotes

  1. Shampo & Kyle, 2010
  2. Collins, 2007
  3. Shampo & Kyle, 2010
  4. Shampo & Kyle, 2010
  5. Shampo & Kyle, 2010
  6. Rosenberg, 2006
  7. Shampo & Kyle, 2010
  8. Shampo & Kyle, 2010
  9. NHGRI, 2015
  10. Shreeve, J. (2005). The Blueprint of Life. U.S. News & World Report, 139(16), 70. https://www.ncbi.nlm.nih.gov/pubmed/16296659
  11. NHGRI, 2015
  12. NHGRI, 2015
  13. Office of the Vice President. (2009, September 4). President Obama Announces Intent to Nominate Francis Collins as NIH Director. The White House, https://www.whitehouse.gov/the-press-office/president-obama-announces-intent-nominate-francis-collins-nih-director
  14. NIH. (2015, September 18). NIH Establishes National Center for Advancing Translational Sciences. National Institutes of Health. https://www.nih.gov/news-events/news-releases/nih-establishes-national-center-advancing-translational-sciences
  15. NIH. (2016, April 7). NIH to reduce significantly the use of chimpanzees in research. National Institutes of Health, https://www.nih.gov/news-events/news-releases/nih-reduce-significantly-use-chimpanzees-research
  16. Collins, 2007

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