National Institutes of Health (NIH)

Giants in genomics: Francis Collins

Dr Francis Collins led the Human Genome Project from 1993. In his work, he was responsible for discovering the genes mutated in cystic fibrosis and Huntington’s disease. He is currently director of the US National Institutes of Health (NIH).

Born in 1950, Francis Collins grew up on a farm in the Shenandoah Valley, Virginia. He did not attend school until the age of 10, but thanks to his mother's teaching was by then already 2 years ahead of his peers. He studied chemistry at the University of Virginia and went on to do a PhD in physical chemistry at Yale. There he first came across DNA, and almost overnight decided to switch to biomedical science.

At that time, finding genes meant slowly 'walking' from one piece of DNA to the next in the hope of stumbling on the gene of interest.

Francis trained as a doctor at the University of North Carolina where he became aware of the problem of inherited diseases and the tremendous challenge they pose for science. In 1981 he returned to Yale as a research fellow in human medical genetics.

At that time, finding genes meant slowly 'walking' from one piece of DNA to the next in the hope of stumbling on the gene of interest. Francis developed a more rapid method that made it possible to 'jump' along longer stretches of DNA.

In 1984, he moved to the University of Michigan, where he collaborated on research that in 1989 pinpointed the gene mutated in cystic fibrosis.

In 1984, he moved to the University of Michigan, where he collaborated on research that in 1989 pinpointed the gene mutated in cystic fibrosis. He soon went on to contribute to the discovery of other disease-causing mutations, including that involved in Huntington's disease.

The Human Genome Project had been launched in 1990 with James Watson at its head, but in 1992 James left after differences with the National Institutes of Health director. A year later, Francis Collins accepted an invitation to step into the breach. Unwilling to give up lab work entirely for administration, he quickly established an intramural programme of genome research at the National Human Genome Research Institute. But, from 1994 much of his time and energy was given over to marshalling the international team of competitive, ambitious and highly individual scientists who had, together, taken on the job of reading and assembling the three billion bases of human DNA.

Francis Collins reminisces about his role during the Human Genome Project.

The Human Genome Project was more significant than going to the Moon

Francis Collins

His diplomatic skills were further challenged in 1998, when Craig Venter launched Celera Genomics with the aim of undertaking the job as a private enterprise. The 'race' between the two projects threw Francis into the media spotlight, where he seized the opportunity to champion the importance of making sure all the information from the project was made openly accessible to the public.

The project, he told CNN, was "more significant than going to the Moon". It was ultimately completed in 2003, ahead of schedule and under budget.

Francis Collins receiving the National Medal of Science from US President Barack Obama in October 2009.
Image credit: National Institutes of Health (NIH)

A committed Christian since his days as a medical student, Francis has frequently voiced concerns about the ethical and legal implications of genetic testing, opposing discrimination on genetic grounds.

In his own lab, Francis is working to discover the genes that contribute to adult-onset diabetes, a huge and growing health problem for both developed and developing countries. His work as a teacher, a researcher and an administrator has won him numerous national and international awards and honours.

 

This page was last updated on 2016-06-13