Francis S. Collins

• Born: April 14, 1950
• Place of Birth: Staunton, Virginia, VA

AMERICAN GENETICIST

A pioneer in the field of human genetics, physician Francis Collins served as the director of the National Human Genome Research Institute at the National Institutes of Health (NIH) in Washington, DC, for fifteen years. His groundbreaking work on mapping the complete human genome led to his being named director of the NIH by US President Barack Obama in 2009.

PRIMARY FIELD: Biology

SPECIALTY: Genetics

Early Life

Francis Sellars Collins was born on April 14, 1950, in Staunton, Virginia. His parents, Fletcher and Margaret Collins, were Yale-educated activists who were commissioned by First Lady Eleanor Roosevelt to rejuvenate a mining town in West Virginia during the Great Depression. Fletcher went on to work as a folksong collector, a supervisor in an aircraft factory during World War II, and a drama teacher at a women’s college. In the 1940s, the Collinses bought a farm in Virginia’s Shenandoah Valley and attempted to work the land without the benefit of machinery.

Margaret homeschooled her four sons, of which Collins was the youngest. When he was ten, he entered the public school system. His exposure to institutionalized religion was limited to a stint in the choir of a local Episcopal church. When he was fourteen, his interest in science was sparked by an enthusiastic chemistry teacher. He graduated from Robert E. Lee High School at sixteen and entered the University of Virginia. During his freshman year, Collins became an agnostic and later an atheist.

After earning a bachelor’s degree in chemistry in 1970, Collins entered Yale University to pursue a PhD in physical chemistry. While preparing his dissertation on theoretical quantum mechanics, he began to have doubts about his chosen field. The isolation of spending long hours in the laboratory conflicted with his growing desire to serve people. As he explored other areas of science, he became interested in the genetic code during a course in biochemistry.

In 1974, he graduated from Yale and entered medical school at the University of North Carolina at Chapel Hill, earning an MD in 1977. During his third year of medical school, he worked with terminally ill patients who exhibited a strong faith in God, which caused him to reconsider his atheism. He applied the same intellectual rigor to his spiritual search as he did to his scientific endeavors. English writer and Christian apologist C. S. Lewis’s Mere Christianity (1952) was a major influence on Collins’s thinking. During a hike in the mountains, Collins had a conversion experience and became a committed Christian.

Life’s Work

Collins served as a resident in internal medicine at North Carolina Memorial Hospital in Chapel Hill from 1978 to 1981 and then returned to Yale as a Fellow in Human Genetics. While at Yale, he and Sherman Weissman published a paper on chromosome jumping, a genome-mapping procedure that bypasses areas of DNA that are difficult to clone. In 1984, Collins accepted a post at the University of Michigan as professor of internal medicine and human genetics, where he developed a gene-hunting approach that he called positional cloning, a gene-identification strategy that became an integral part of molecular genetics.

Collins’s main interest was to identify and isolate genes that caused serious hereditary diseases. During the late 1980s, he joined Lap-Chee Tsui and a team of researchers at Toronto’s Hospital for Sick Children who were working to find the genes responsible for cystic fibrosis. Using the chromosome jumping method he pioneered, Collins and his colleagues identified the gene in 1989. Their work helped spur discoveries of genes that cause Huntington’s disease and neurofibromatosis, among other conditions.

In 1993, Collins’s growing reputation as a premier gene hunter led to his appointment as director of the National Center for Human Genome Research. He succeeded Nobel laureate James D. Watson, who had discovered the spiral structure of DNA with Francis Crick. In 1997, the center was renamed the National Human Genome Research Institute. The goal of the organization was to map the human genome in order to understand the hereditary nature of common diseases such as breast and prostate cancer. In June of 2000, US President Bill Clinton announced that a working draft of the first genetic blueprint of the human species was complete. Joining the president on the podium were Collins and biochemist Craig Venter, the founder of Celera Genomics, a private-sector company that was also working on sequencing human DNA.

In 2007, Collins founded the BioLogos Foundation, which is dedicated to exploring the compatibility between science and religion. The foundation promotes theistic evolution, a controversial belief that God is the author of the physical universe and has used evolution as a vehicle to create all life on Earth. Collins’s notable achievements, as well as his interest in the harmony between science and faith, led Pope Benedict XVI to appoint him to the Pontifical Academy of Sciences in 2009.

On July 8, 2009, Collins was nominated by President Barack Obama to be the director of the National Institutes of Health (NIH). Kathleen Sebelius, the secretary of Health and Human Services, announced that his nomination had been unanimously confirmed by the Senate. His appointment was praised by many of his colleagues, but some were not as enthusiastic. In 2006, Collins published The Language of God, a memoir that details his path to faith, his advocacy of theistic evolution, and his belief that religion and science are compatible. Critics were afraid that his evangelical Christianity would negatively influence his decisions on controversial topics. He sought to reassure his detractors, however, by stating that his personal beliefs would have no impact on his leadership of the NIH.

Occupying one of the most powerful positions in Washington, the director of the NIH oversees 27 institutes and research centers, more than 20,000 onsite staff members, and 325,000 offsite researchers. Collins’s experience as director of the National Human Genome Research Institute prepared him well for the formidable challenge of running a sprawling government agency.

In addition to his management responsibilities, Collins dealt with ethical questions and political controversies, including embryonic stem cell research. His critics were afraid that his religious beliefs would cause him to roll back the advances in the field. Collins, however, believed that embryonic stem cell research would be crucial in developing new treatments for a variety of medical conditions, including restoring movement in people who are paralyzed. Although he was opposed to creating embryonic stem cells for research purposes, he fought for congressional funding to use existing lines, as well as adult cells. He also advocated for keeping genetic information private and spoke against discrimination by employers and health insurance agencies based on one’s genetic profile. In 2013 he outlined plans to reduce use of chimpanzees in NIH-funded studies, and in 2015 he announced that the NIH would no longer be funding any research involving chimpanzees. In 2016, with the help of an additional $680 million contributed to the project by the federal government, he launched the Cancer Moonshot Initiative to accelerate cancer research.

Collins continued to head the NIH until 2021, when he stepped down at the end of the year. In 2022, he was appointed as interim science advisor to President Joe Biden, replacing Massachusetts Institute of Technology professor Eric Lander, who resigned. Collins served until October 2022, when he was succeeded by the head of the National Institute of Standards and Technology, Arati Prabhakar.

For his contributions to genetic research, Collins received the Kilby International Award (1993), the Presidential Medal of Freedom (2007), and the National Medal of Science (2009). He was also elected to the Institute of Medicine and the National Academy of Sciences.

Impact

When Collins became director of the National Genome Research Institute in 1993, the Human Genome Project had been in existence for three years. It was regarded as one of the most important scientific projects ever undertaken. Because he was a physician specializing in genetics, Collins was seen as the perfect choice to head the institute. Initially he refused the appointment, but the challenge of sequencing the human genome proved irresistible, and he accepted the directorship.

Not only was Collins attracted to cutting-edge genetic research, he was also committed to the principle that scientists should have free access to genetic information. This conviction was not shared by Craig Venter at Celera Genomics, a private enterprise also dedicated to sequencing human DNA. Venter was determined to patent genes, which would give his company a monopoly on the information. Celera also planned to charge subscription fees for access to the data. Eventually, Venter bowed to Collins’s advocacy for open access to the sequencing information.

The public availability of the data has transformed scientists’ understanding of how disease is caused. Discoveries made during Collins’s tenure as director have the potential to revolutionize medicine. These discoveries include the identifications of genes associated with Parkinson’s disease and prostate cancer, alterations of BRCA 1 and BRCA 2 (which are associated with breast, ovarian, and prostate cancers), the identification of genetic factors influencing late-onset Alzheimer’s disease, and others. In combination with traditional diagnostic tools such as personal medical history, family history, magnetic imaging, and laboratory tests, information on specific hereditary risk factors could be used to tailor personal treatments and drug therapies.

In 2014, Johns Hopkins University named an award for Collins. The Francis S. Collins Scholar Award is given to researchers studying neurofibromatosis.

Bibliography

Boyer, Peter, J. “The Covenant.” New Yorker 6 Sept. 2010: 60–67. Print.

Collins, Francis S. "Q and A with NIH Director Dr Francis S Collins: The Value of Global Health Research and Training." Interview by Roger Glass. Global Health Matters, vol. 15, no. 6, 2016, p. 5. Fogarty International Center, www.fic.nih.gov/News/GlobalHealthMatters/november-december-2016/Documents/fogarty-nih-global-health-matters-newsletter-november-december-2016.pdf. Accessed 11 Oct. 2024.

Collins, Francis S. The Language of God: A Scientist Presents Evidence for Belief. New York: Free, 2006.

Collins, Francis S. The Language of Life: DNA and the Revolution in Personalized Medicine. New York: Harper, 2010.

"Francis S. Collins, MD, PhD." National Human Genome Research Institute, 25 Sept. 2015, www.genome.gov/10001018/former-nhgri-director-francis-collins-biography. Accessed 11 Oct. 2024.

Giberson, Karl W., and Francis S. Collins. The Language of Science and Faith: Straight Answers to Genuine Questions. Downers Grove: InterVarsity, 2011. Print.

Khullar, Dhruv. “Faith, Science, and Francis Collins." The New Yorker, 7 Apr. 2022, www.newyorker.com/news/persons-of-interest/faith-science-and-francis-collins. Accessed 11 Oct. 2024.

Mervis, Jeffrey. “Resignation Leads to Controversial Division of White House Science Adviser’s Job." Science, 17 Feb. 2022, www.science.org/content/article/resignation-leads-controversial-division-white-house-science-adviser-s-job. Accessed 11 Oct. 2024.