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Human Genome News Archive Edition

Human Genome Quarterly, Winter 1990; 1(3)

Human Genome I

International Conference Describes Status of Genome Research, Cooperation
Human Genome I-the first in a series of international meetings-reported progress in efforts to map and sequence the human genome and to improve international cooperation in the Human Genome Project. Attended by over 1300 scientists, science writers, and representatives of the commercial sector, the meeting was held October 2-4, 1989, in San Diego, California. Human Genome I was sponsored by the American Association for the Advancement of Science (publisher of Science) and the international Human Genome Organisation (HUGO).

Cochairs were Charles Cantor (Director of the DOE Human Genome Center at LBL) and Daniel Koshland (Professor of Biochemistry and Molecular Biology, University of California, Berkeley, and editor of Science). In addition to an excellent program of 31 platform talks and over 100 poster presentations, meeting attendees were able to view 80 commercial exhibits during the poster sessions.

In the keynote address, Cantor stated that the annual Human Genome meetings will provide an accounting of progress in the genome project to scientists, the public, and funding agencies. He also said that rapidly occurring advances in genetics research are facilitating the construction of genetic and physical maps of human and other genomes-the first task of the project.

Presentation Topics Demonstrate Diversification of Research

The selection of topics presented in platform talks and numerous poster presentations illustrates the diversification of genome research. Several of them pertained to the status of continuing research in genetic and restriction mapping, cloning techniques, ordered libraries, sequencing technologies, and societal implications of human genome research.

Methods presented in the area of technique innovations included in situ hybridization, PCR, radiation hybrids, rapid mapping, and automated contig mapping.

Studies covered on genomic regions of interest included cystic fibrosis (CF), the fragile X chromosome, telomeric and other repeating sequences, immunoglobulins, and T-cell receptors.

In the applications area, presentations were given on single-gene diseases (on the X chromosome), multigene diseases, unstable DNA sequences, informatics-interpreting the DNA sequence, sex determination, and human evolution.

Francis Collins (Howard Hughes Medical Institute, University of Michigan Medical Center), codiscoverer of the CF gene with Lap-Chee Tsui (The Hospital for Sick Children, Toronto), described the strategies employed in the arduous task of locating and cloning the CF gene. He remarked that since CF is a high-frequency, single-gene disease, the CF gene was relatively easy to locate, compared to genes responsible for multigenic diseases. He stated that had sets of overlapping DNA clones-products resulting from the DOE Human Genome Program-been available during the quest for the CF gene, the task would have been completed two years earlier.

Several speakers discussed the organization of human genome efforts in other countries. Victor McKusick (Johns Hopkins University School of Medicine), then President of HUGO, described the role of HUGO in the Human Genome Project and the rapid accumulation of genetic map data-the first step toward a basic understanding of disease genes.

Nobel laureate James Watson, Director of the Cold Spring Harbor Laboratory and Director of the NIH NCHGR, in addition to the NIH genome program, discussed:

  • the benefit of the genome project to society;
  • the necessity for cooperation among all biologists; and
  • the need for international support to accomplish the tasks of mapping, sequencing, and interpreting human genome data.

Charles Cantor described DOE's mandate from which ensued the need to determine and interpret the DNA sequence directly: to be able to detect low-frequency mutations that result from ionizing radiation and energy production by-products. He said some DOE areas of expertise include:

  • coordinating large projects,
  • designing and integrating computer and other system components for use in research projects, and
  • transferring these technologies to the commercial sector.

Cantor called for merging the DOE and NIH committees that have overlapping missions-for example, creating joint informatics and ethics task forces to conduct the respective studies of the computing needs and societal implications of the genome project.

The closing overview talk was given by Nobel laureate Renato Dulbecco (The Salk Institute), an early proponent of the genome project [Science 231, 1055-1056 (1986)]. He said that although all of biology is connected by evolution as evidenced by striking similarities at all levels of organization, there is a limit to what can be learned from the study of other species. He reasoned that to understand the biology of humans, true human characteristics must be studied; therefore, the Human Genome Project must exist. "To get a deep understanding of function of the [human] genome," he said, "the sequence becomes essential." He also contended that the "big science/cottage industry" question is not appropriate for the genome project; individual research groups, while maintaining their own interests, have been pulled together to complete this project. "The whole is greater than the sum of its parts," Dulbecco stated.

Dulbecco outlined a scenario for biological research after more of the genome data becomes available. Start with the sequence, he said, and look at gene expression in a systematic manner-cell type by cell type-so that the mechanisms that control development and differentiation can be uncovered. "Antibodies could be made to synthetic polypeptides," he claimed; "it is conceivable to determine the tertiary structure of proteins." The genome project will impact other fields of research with the design of new drugs. Dulbecco affirmed that there are great opportunities to apply genome project results in cancer research.

A comment made by Cantor earlier in the meeting provided the consensus statement: "Rather than compromising the future of biology, the Human Genome Project is ensuring it."


Written by Betty K. Mansfield
HGMIS, ORNL

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The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v1n3).

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.