Francis Collins biography 19/3/04. By Georgina Ferry Francis Collins is Director of the National Human Genome Research Institute, the centre funded by the US government that coordinated the international Human Genome Project.

Born in 1950, he grew up on a farm in the Shenandoah Valley, Virginia. He did not attend school until the age of ten, but thanks to his mother's teaching was by then already two 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.

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

At that time, finding genes was a matter of identifying chromosomal markers that were inherited with the disease, and then 'walking' from one piece of DNA to the next in the hope of stumbling on the gene of interest. It was painfully slow. Collins developed a more rapid method that made it possible to 'jump' along larger stretches of DNA; later, he coined the term 'positional cloning' to describe this process of finding a disease gene by its map position.

Professor Francis Collins

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

Background: Cystic fibrosis

The Human Genome Project had been launched in 1990 with James Watson at its head; but in 1992 Watson 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 (NHGRI). But in the years between 1994 and 2000, much of his time and energy was given over to marshalling the international team of competitive, ambitious and highly individual scientists who had undertaken to read and assemble the three billion bases of human DNA.

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.

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 Collins into the media spotlight, where he seized the opportunity to champion the importance of keeping genomic information in the public domain. A committed Christian since his days as a medical student, Collins has frequently voiced concerns about the ethical and legal implications of genetic testing, opposing discrimination on genetic grounds. Having seen for himself the huge health gap between rich and poor countries through his work at a mission hospital in Nigeria, he is also concerned that the benefits of genome research should be extended to all.

With the genome sequence complete, NHGRI is now supporting another international initiative, the International Haplotype Mapping Consortium, which will speed up the identification of genetic variants that contribute to disease.

Meanwhile in his own lab, Collins 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.