Collins, Francis

▪ 2001

      On June 26, 2000, scientists gathered in Washington, D.C., accompanied by U.S. Pres. Bill Clinton, to announce that the sequencing of the DNA in the human genetic map had been completed through the combined effort of a public research consortium and a private company. The breakthrough was hailed as the first step toward helping doctors diagnose, treat, and even prevent thousands of illnesses caused by genetic disorders. One of the primary players in the work that led to the historic announcement was Francis Collins, director of the National Human Genome Research Institute. Though he had come under fire for waging a well-publicized feud with J. Craig Venter, his counterpart in the private sector, Collins had led the government-backed effort, known as the Human Genome Project (HGP), since 1993, steering the effort through years of lean funding and increasing critical scrutiny.

      Francis Sellers Collins was born on April 14, 1950, in Staunton, Va. Homeschooled by his mother for much of his young life, Collins took an early interest in science. He received his B.S. from the University of Virginia (1970), went on to Yale University to earn his M.S. and Ph.D. (1974), and earned his M.D. (1977) at the University of North Carolina at Chapel Hill. In 1984 Collins joined the staff of the University of Michigan at Ann Arbor as an assistant professor. His work at Michigan would earn him the reputation as one of the world's foremost genetics researchers. In 1989 he announced the discovery of the gene that causes cystic fibrosis. The following year a Collins-led team found the gene that causes neurofibromatosis, a genetic disorder that generates the growth of tumours. He also served as a leading researcher in a collaboration of six laboratories that in 1993 uncovered the gene that causes Huntington chorea, a neurological disease.

      In 1993 Collins, by then a full professor, left Michigan to take the post as head of the National Institutes of Health's sector of the HGP, which had originated three years earlier with a stated goal of completing the sequencing project in 15 years at a cost of $3 billion by coordinating the work of a number of leading academic research centres around the country, in collaboration with the U.S. Department of Energy and the Wellcome Trust of London. Known as a team player driven by a sincere interest in successful research that could help humanity, Collins was an obvious choice for the job, and he willingly took a sizable pay cut to participate in a historic project.

      The necessity of a government effort was questioned when a rival operation, Celera Genomics, emerged in 1998 and appeared to be working even faster than the HGP at sequencing DNA. Headed by Venter, a former National Institutes of Health scientist, Celera had devised its own, quicker method—though some scientists, Collins among them, questioned the accuracy of the work. Collins successfully thwarted attempts to merge the public effort with the private endeavours, but in the end the two sides came together to announce the completion of the project.

      A devout Christian, Collins freely expressed the awe he experienced as a leader in the uncloaking of one of the mysteries of life. As concerns arose about the moral and ethical implications of the research he had conducted, Collins actively cautioned against misuse of genetic information. At congressional hearings in July, Collins urged the passage of federal law to set guidelines on how individuals' genetic information could be handled. “The potential for mischief is quite great,” he said.

Anthony G. Craine

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▪ American geneticist

in full  Francis Sellers Collins 

born April 14, 1950, Staunton, Va., U.S.

      American geneticist who discovered genes (gene) causing genetic diseases (genetic disease, human) and led the U.S. National Institutes of Health (NIH) public research consortium in the Human Genome Project (HGP).

      Homeschooled by his mother for much of his childhood, Collins took an early interest in science. He received a B.S. from the University of Virginia (Virginia, University of) (1970), went on to Yale University to earn an M.S. and a Ph.D. (1974), and earned an M.D. (1977) at the University of North Carolina (North Carolina, University of) at Chapel Hill. In 1984 Collins joined the staff of the University of Michigan (Michigan, University of) at Ann Arbor as an assistant professor. His work at Michigan would earn him a reputation as one of the world's foremost genetics researchers. In 1989 he announced the discovery of the gene that causes cystic fibrosis. The following year a Collins-led team found the gene that causes neurofibromatosis, a genetic disorder that generates the growth of tumours (tumour). He also served as a leading researcher in a collaboration of six laboratories that in 1993 uncovered the gene that causes Huntington chorea (Huntington disease), a neurological disease.

      In 1993 Collins, by then a full professor, left Michigan to take the post as head of the National Human Genome Research Institute (NHGRI) of the NIH, which had begun work on the HGP three years earlier with a stated goal of completing the sequencing project in 15 years at a cost of $3 billion by coordinating the work of a number of leading academic research centres around the country, in collaboration with the U.S. Department of Energy and the Wellcome Trust of London. Driven by a sincere interest in successful research that could help humanity, Collins was an obvious choice for the job, and he willingly took a sizable pay cut to participate in a historic project.

      The necessity of a government effort was questioned when a rival operation, Celera Genomics, emerged in 1998 and appeared to be working even faster than the HGP at deciphering the human deoxyribonucleic acid ( DNA) sequence. Headed by American geneticist and businessman J. Craig Venter (Venter, J. Craig), a former NIH scientist, Celera had devised its own, quicker method—though some scientists, Collins among them, questioned the accuracy of the work. However, in the end the public and private endeavours came together. On June 26, 2000, Collins, Venter, and U.S. Pres. Bill Clinton (Clinton, Bill) gathered in Washington, D.C., to announce that the rough draft sequence of the DNA in the human genetic map had been completed through the combined effort of Collins's public research consortium and Venter's private company. The breakthrough was hailed as the first step toward helping doctors diagnose, treat, and even prevent thousands of illnesses caused by genetic disorders. In April 2003, following further analysis of the sequence, the HGP came to a close. The announcement of the completion of the HGP coincided with the 50th anniversary of American geneticist and biophysicist James D. Watson (Watson, James Dewey) and British biophysicist Francis Crick's (Crick, Francis Harry Compton) publication on the structure of DNA.

      A practicing Christian, Collins freely expressed the awe he experienced as a leader in the uncloaking of one of the mysteries of life. As concerns arose about the moral and ethical implications of the research he had conducted, Collins actively cautioned against misuse of genetic information. At congressional hearings in July 2000, Collins urged the passage of federal law to set guidelines on how individuals' genetic information could be handled. “The potential for mischief is quite great,” he said. On Aug. 1, 2008, Collins resigned from his position as director of the NHGRI in order to pursue broader, more flexible research opportunities.

Anthony G. Craine

 

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