Francis Collins

Francis Collins is an American physician-geneticist who led the Human Genome Project and directed the U.S. National Institutes of Health from 2009 to 2021.

James D. Watson: An American molecular biologist who co-discovered DNA’s double-helix structure and led the Human Genome Project before Collins. Watson’s departure from the project preceded Collins’s appointment as its director.
Human Genome Project: An international research effort that produced a reference sequence of the human genome. Collins directed the publicly funded consortium that completed this project.
Personalized medicine: Medical care that uses individual biological information, including genetic data, to guide prevention or treatment. Genome sequencing strengthened the prospect of tailoring care to genetic differences.
Association for Molecular Pathology v. Myriad Genetics: A 2013 U.S. Supreme Court case holding that naturally occurring DNA sequences are not patent-eligible merely because isolated. The ruling addressed gene patents amid the genomic research era Collins helped shape.
Craig Venter: An American biologist and entrepreneur who sequenced the human genome using a privately funded approach. Venter’s independent sequencing effort competed with the publicly funded project Collins led.
Hierarchical shotgun sequencing: A sequencing strategy that maps large DNA fragments before assembling their smaller sequenced pieces. The public project used this method to organize genome assembly.
Genome-wide association study: A study that tests genetic variants across many people for statistical associations with traits or disease. The reference genome helped enable large-scale searches for disease-associated variants.
NIH data-sharing policy: Federal policies governing access to and reuse of data produced by NIH-funded research. Open genomic data advanced research but raised privacy and consent questions during Collins’s leadership.
Harold Varmus: An American virologist and Nobel laureate who directed the National Institutes of Health from 1993 to 1999. Varmus was an earlier NIH director whose tenure provides institutional context for Collins’s.
Whole-genome shotgun sequencing: A sequencing strategy that fragments an entire genome and assembles overlapping reads computationally. Venter’s team used this alternative to the project’s map-first strategy.

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