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Human Genome News Archive Edition

Human Genome News, September 1990; 2(3)

Genome Project Can Benefit Search for Disease Genes

An Investigator's Perspective by Francis Collins
Francis S. Collins is Chief of Medical Genetics at the University of Michigan Medical Center and an investigator with the Howard Hughes Medical Institute. Both a researcher and a practicing medical doctor, Collins is one of the most successful of the gene hunters. His group identified the genes that cause cystic fibrosis and neurofibromatosis and are now searching for the Huntington's disease gene. Next on their hit list is the gene that regulates production of hemoglobin. In this article, Collins gives his perspective on the importance and relevance of the Human Genome Project in the search for clues to genetically caused diseases.


The Human Genome Project, whose goal is the mapping and sequencing of all the DNA in human chromosomes, is widely believed to be an idea whose time has come. Extensively debated in the scientific community and reviewed by numerous scientific and lay advisory panels during the past 5 years, the genome project promises to open the way to true understanding of the basis for human health and disease.

One year ago, the gene related to cystic fibrosis (CF) was identified as a result of an international collaborative effort between my research group and that of Lap-Chee Tsui and Jack Riordan of Toronto's Hospital for Sick Children. When one considers all the work performed by the more than 2 dozen laboratories involved in this effort over 10 years, the cost of finding the CF gene is probably in the vicinity of $50 million to $100 million. Yet locating the gene responsible for cystic fibrosis was regarded as one of the more straightforward and solvable genetic problems because CF occurs with high frequency in the population and is caused by a single gene.

If the sets of overlapping clones and panels of genetic markers now being developed in the nascent Human Genome Project had been available for use in our quest for the CF gene, identification of that gene would have occurred considerably earlier. Similarly, the search for the neurofibromatosis (NF1) gene-a search that recently led to the almost simultaneous cloning of the gene by my group and by Ray White's group in Utah-would have greatly benefited by the prior existence of a robust genetic map and a set of overlapping clones.

Over 3000 genetic markers are known today; genome project investigators are locating additional markers at increasingly rapid rates for use by genome project researchers and gene hunters alike. Through this effort and the construction of overlapping sets of ordered clones, the genome project is developing the tools to identify more of the genes responsible for different diseases.

Carried out in a traditional manner, the search for the myriad genes responsible for more complex diseases such as Alzheimer's, cancer, or schizophrenia would be unnecessarily costly and wasteful of scientists' time. The Human Genome Project is not just a convenient alternative; it is organized to achieve the specific goals of systematically mapping and sequencing human genes, and it is likely to be the only viable approach for identifying major genetic influences that affect the health of everyone. Without the data arising from the project, progress in identifying genes for common multigenic disorders would be unacceptably slow.

The project will stimulate more investigator-initiated research because generated data will spin off thousands of research projects over the course of the next few decades. Individual investigators will be able to use information generated by the genome project to pursue their own creative ideas.

A large number of highly talented individuals have recognized the promise of this effort and have shifted their own research priorities to help in attaining the goals of the Human Genome Project. It is critical to continue the planned funding program to get the project under way in an effective manner and to retain the creative people involved.


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Human Genome Program, U.S. Department of Energy, Human Genome News (v2n3).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.