Human Genome Project

In 1990 the National Institutes of Health (NIH) and Department of Energy (DOE) joined with partners internationally with the goal of sequencing the entire human genome of 3 billion base pairs and the project was called the Human Genome Project. The NHGRI formed to manage the role of NIH in the HGP, funded research in related areas and together with the Division of Extramural Research (DER) set scientific priorities for HGP research.

Physician-geneticist Francis S. Collins was director of NHGRI from 1993 and lead the HGP to completion. He oversaw the collaboration between multidisciplinary, multi-institutional and international teams of researchers to map and sequence the human genome.

J. Craig Venter is a biochemist-geneticist who received private funding to independently map and sequence human DNA. In 1998 Venter became president and CEO of Celera Genomics which initially raced against the HGP to be first to sequence the human genome. Venter developed a sequencing strategy of tagging and partially sequencing genes, “expressed sequence tags”. Collins and Venter began to cooperate around 2000 when U.S. President Bill Clinton and British Prime Minister Tony Blair jointly declared that genome information should be free to the public.

The HGP is a useful reference that has accelerated the discovery of genes, disease-causing mutations and the development of diagnostic tests and therapeutics to treat diseases. The human genome is still not completely understood and current research aims to further understand how all the parts of the human genome, such as genes, gene regulatory elements and the structural organization of DNA and genes within the nucleus of the cell, work together in healthy or diseased states.