Francis Collins

Francis Sellers Collins (born April 14, 1950) is an American physician-scientist who discovered the genes associated with a number of diseases and led the Human Genome Project.

What he referred to as his "formative education" was received at the University of Virginia, where he earned a Bachelor of Science degree in chemistry in 1970.

Several scientific teams worked in the 1970s and 1980s to identify genes and their loci as a cause of cystic fibrosis.

He went on to graduate as a Doctor of Philosophy in physical chemistry at Yale University in 1974.

During his time at Yale, a course in biochemistry sparked his interest in the subject.

After consulting with his mentor from the University of Virginia, Carl Trindle, he changed fields and enrolled in medical school at the University of North Carolina at Chapel Hill, earning a Doctor of Medicine degree there in 1977.

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 a Fellow in Human Genetics at the medical school from 1981 to 1984.

At Yale, Collins worked under the direction of Sherman Weissman, and in 1984 the two published a paper, "Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method".

The method described was named chromosome jumping, to emphasize the contrast with an older and much more time-consuming method of copying DNA fragments called chromosome walking.

Collins joined the University of Michigan faculty in 1984, rising to the rank of professor in internal medicine and human genetics.

His gene-hunting approach, which he named "positional cloning", developed into a powerful component of modern molecular genetics.

Progress was modest until 1985, when Lap-Chee Tsui and colleagues at Toronto's Hospital for Sick Children identified the locus for the gene.

It was then determined that a shortcut was needed to speed the process of identification, so Tsui contacted Collins, who agreed to collaborate with the Toronto team and share his chromosome-jumping technique.

The gene was identified in June 1989, and the results were published in the journal Science on September 8, 1989.

This identification was followed by other genetic discoveries made by Collins and a variety of collaborators.

They included isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, inv(16) AML and Hutchinson–Gilford progeria syndrome.

In 1993 National Institutes of Health Director Bernadine Healy appointed Collins to succeed James D. Watson as director of the National Center for Human Genome Research, which became National Human Genome Research Institute (NHGRI) in 1997.

As director he oversaw the International Human Genome Sequencing Consortium, which was the group that successfully carried out the Human Genome Project.

In 1994 Collins founded NHGRI's Division of Intramural Research, a collection of investigator-directed laboratories that conduct genome research on the NIH campus.

In June 2000 Collins was joined by President Bill Clinton and biologist Craig Venter in making the announcement of a working draft of the human genome.

He stated that "It is humbling for me, and awe-inspiring to realize that we have caught the first glimpse of our own instruction book, previously known only to God."

An initial analysis was published in February 2001, and scientists worked toward finishing the reference version of the human genome sequence by 2003, coinciding with the 50th anniversary of James D. Watson and Francis Crick's publication of the structure of DNA.

Another major activity at NHGRI during his tenure as director was the creation of the haplotype map of the human genome.

This International HapMap Project produced a catalog of human genetic variations—called single-nucleotide polymorphisms—which is now being used to discover variants correlated with disease risk.

Among the labs engaged in that effort is Collins' own lab at NHGRI, which has sought to identify and understand the genetic variations that influence the risk of developing type 2 diabetes.

In addition to his basic genetic research and scientific leadership, Collins is known for his close attention to ethical and legal issues in genetics.

He served as director of the National Institutes of Health (NIH) in Bethesda, Maryland, from 17 August 2009 to 19 December 2021, serving under three presidents.

Before being appointed director of the NIH, Collins led the Human Genome Project and other genomics research initiatives as director of the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers at NIH.

Before joining NHGRI, he earned a reputation as a gene hunter at the University of Michigan.

He has been elected to the Institute of Medicine and the National Academy of Sciences, and has received the Presidential Medal of Freedom and the National Medal of Science.

Collins also has written books on science, medicine, and religion, including the New York Times bestseller, The Language of God: A Scientist Presents Evidence for Belief.

After leaving the directorship of NHGRI and before becoming director of the NIH, he founded and served as president of The BioLogos Foundation, which promotes discourse on the relationship between science and religion and advocates the perspective that belief in Christianity can be reconciled with acceptance of evolution and science, especially through the idea that the Creator brought about his plan through the processes of evolution.

In 2009, Pope Benedict XVI appointed Collins to the Pontifical Academy of Sciences.

On October 5, 2021, Collins announced that he would resign as NIH director by the end of the year.

Four months later in February 2022, he joined the Cabinet of Joe Biden as Acting Science Advisor to the President, replacing Eric Lander.

Collins was born in Staunton, Virginia, the youngest of four sons of Fletcher Collins and Margaret James Collins.

Raised on a small farm in Virginia's Shenandoah Valley, Collins was home schooled until the sixth grade.

He attended Robert E. Lee High School in Staunton, Virginia.

Through most of his high school and college years he aspired to be a chemist, and he had little interest in what he then considered the "messy" field of biology.