National Institutes Of Health Update On The Human Genome Gene Map Project

Article originally published in October, 1998

(BETHESDA, MD)- A team of 64 scientists from government, university and commercial laboratories around the world achieved a new milestone in the Human Genome Project by collaborating to produce a new 'gene map' pinpointing the chromosomal locations of almost half of all genes. This GeneMap'98 compilation is available on the Internet and will greatly expedite the discovery of human disease genes, which can result in advances in detection and treatment of common illnesses. It will also complement human genome sequencing by highlighting 'gene-rich' regions of the chromosomes.

Construction of GeneMap'98 was spearheaded by scientists at the National Center for Biotechnology Information (NCBI), a branch of the National Library of Medicine (NLM) at the National Institutes of Health, together with the Sanger Centre, a British genome center funded by the Wellcome Trust. According to Donald A.B. Lindberg, M.D., director of the NLM, this new map charts the chromosomal locations of 30,181 human genes, about twice the number that had previously been localized. In addition, the mapping accuracy has been improved by 2-3 times compared to the earlier version of the map, released in October of 1996. The map provides an important scientific infrastructure for understanding how genes interact with one other to maintain normal health and how defects in those genes can lead to common illnesses such as diabetes, heart disease and cancer. Researchers around the world can tap into the GeneMap'98 data through a web site developed at the NCBI .

"By any standard, it's a tremendous step forward," commented James D. Watson, Ph.D., President of the Cold Spring Harbor Laboratory, former head of the NIH National Center for Human Genome Research, and co-winner of the Nobel Prize in Medicine (1962). "It will immediately speed up positional disease cloning as well as let the worlds of pure and applied biology move on solidly to functional genomics."

"It has been estimated that the human genome contains between 60,000 and 80,000 genes, so the new Gene Map brings us nearly to the halfway point," observed Dr. Gregory Schuler, an NCBI scientist who worked closely with his counterparts at the Sanger Centre to create the new gene map and the accompanying web site. "However, for most genes, we have relatively little understanding of the role they play in the body. Knowing where these genes fall on the map provides a starting point for further research." Although gene mapping is one component of the Human Genome Project, it differs from the task of determining the complete DNA sequence of the human genome, which has been much in the news recently. The U.S. government, working with institutions in other nations of the world, has accelerated efforts to produce a 'working draft' of the genomic sequence by the year 2001 and a highly accurate and comprehensive 'finished product' by 2003.

"Only about 5% of the DNA in our bodies codes for protein," continued Dr. Schuler, "but it is particularly important to know the location of these segments. Even before the total genomic sequence is completed, the new Gene Map should contribute substantially to the advancement of our understanding of human biology and to the isolation of disease genes." Schuler's colleague at the National Center for Biotechnology Information, scientist Dr. Mark Boguski, who has also been instrumental in the compilation of the Gene Map, concurs. "GeneMap'98 is an important resource and tool for the study of complex genetic traits and for our understanding of disease mechanisms and potential prevention and treatments. It will teach us a lot. In fact, in the 21st century library of medicine, the books are our genes. The Gene Map will function like the card catalog, leading researchers to volumes of information that are sitting on the shelf, just waiting to be discovered."

"Many talented biologists and computer specialists worked together to assemble the Gene Map," noted Dr. David J. Lipman, NCBI director, "and putting it on the web extends the collaboration to the entire worldwide biomedical research community. The Gene Map is for everybody." The online version of the 1996 Gene Map has been a popular attraction; the NCBI estimates that as many as 3 million web hits have been made on this site since it was launched in October of 1996. Furthermore, as Dr. Lipman pointed out, "beyond its use by researchers, the web site has unexpectedly proved to be a valuable Outreachal resource for high school and even middle school students learning about human biology, medicine and genetics." The updated version is likewise expected to attract numerous scientists, physicians and others interested in genetics. A special section for the public, entitled 'Genes and Disease,' is featured on the web site.

"Doubling the density of the human gene map is a terrific gift to scientists and the public," said Francis Collins, M.D., Ph.D., Director of the NIH's National Human Genome Research Institute. "Now gene hunters who are trying to track down the hereditary causes of diabetes, hypertension, cancer, or mental illness have a much better chance that the gene they are looking for has already been placed on the map, potentially saving many years of work. Private industry has also played a key role in the development of the new map. "Gene Map '98 is a fine example of the excellent products that are resulting from the Human Genome Project through extensive, open, international cooperation," noted Alan R. Williamson, Ph.D., Former Vice President for Research Strategy, Merck & Company, Inc. and current member of the National Human Genome Research Institute Advisory Council. "Everyone involved in GeneMap'98 is to be congratulated." Among NCBI's key partners in the creation of GeneMap'98 are: the Sanger Centre, Cambridge UK; the Whitehead Institute, Cambridge, MA and the Stanford University Genome Center, Palo Alto, CA (both funded by the U.S. National Human Genome Research Institute, NIH), Généthon, Evry, France, and the Wellcome Trust Center for Human Genetics, Oxford, UK.

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