Human Genome Program Report Part II
1996 Infrastructure Abstracts

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Sequencing 

Mapping 

Informatics 

ELSI 

Infrastructure 

SBIR 
 
FY '94-'95 Projects 



Part I Index 

Part II Index 

Glossary 
  
Acronyms 
 

    Alexander Hollaender Distinguished Postdoctoral Fellowships 
    Linda Holmes and Eugene Spejewski 
    Oak Ridge Institute for Science and Education; Oak Ridge, TN 37831-0117 
    423/576-3192, Fax: /241-5220, holmesl@orau.gov or alexpgm@orau.gov  

    The Alexander Hollaender Distinguished Postdoctoral Fellowships, sponsored by the Department of Energy (DOE), Office of Health and Environmental Research (OHER), support research in the fields of life, biomedical, and environmental sciences. Since the DOE Human Genome Distinguished Postdoctoral Fellowships and DOE Global Change Distinguished Postdoctoral Fellowships both had their last application cycles in FY 1995, the Hollaender program is now open to recent PhD graduates in the fields of human genome and global change, as well. 

    Fellowships of up to 2 years are tenable at any DOE, university, or private laboratory providing the proposed adviser at that laboratory receives at least $150,000 per year in support from OHER. Fellows earn stipends of $37,500 the first year and $40,500 the second. To be eligible, applicants must be U.S. citizens or permanent residents at the time of application, and must have received their doctoral degrees within two years of the earliest possible starting date, which is May 1 of the appointment year. 

    The Oak Ridge Institute for Science and Education (ORISE), administrator of the fellowships, prepares and distributes program literature to universities and laboratories across the country, accepts applications, convenes a panel to make award recommendations, and issues stipend checks to fellows. The review panel identifies finalists from which DOE selects the award winners. Deadline for the FY 1999 fellowship cycle is January 15, 1998. For more information or an application packet, contact Linda Holmes at the Oak Ridge Institute for Science and Education, P. O. Box 117, Oak Ridge, TN 37831-0117 (423/576-9975, Fax: /241-5220). 

    DOE Contract No. DEAC05760R00033. 



    Human Genome Management Information System 
    Betty K. Mansfield, Anne E. Adamson, Denise K. Casey, Sheryl A. Martin, John S. Wassom, Judy M. Wyrick, Laura N. Yust, Murray Browne, and Marissa D. Mills 
    Life Sciences Division; Oak Ridge National Laboratory; Oak Ridge, TN 37830 
    423/576-6669, Fax: /574-9888, bkq@ornl.gov 
    http://www.ornl.gov/hgmis 

    The Human Genome Management Information System (HGMIS), established in 1989, provides information about the international Human Genome Project in print and World Wide Web formats to both technical and general audiences. HGMIS is sponsored by the Human Genome Program Task Group of the DOE Office of Biological and Environmental Research to help fulfill DOE's commitment to informing scientists, policymakers, and the public about the program's funded research and the context in which the research is conducted. Several HGMIS products, including the Web sites and newsletter, have won technical and electronic communication awards. 

    HGMIS goals center on facilitating research at the interface of genomics and other biological disciplines that seek revolutionary solutions to biological, environmental, and biomedical challenges. By communicating information about the Human Genome Project and its impact, HGMIS increases the use of project-generated resources, reduces duplicative research efforts, and fosters collaborations and contributions to biology from other research disciplines. 

    Furthermore, communicating scientific and societal issues to nonscientist audiences contributes to increased science literacy, thus laying a foundation for more informed decision making and public-policy development. For example, since 1995 HGMIS has been participating in a project to educate the judiciary about the basics of genetics and gene testing. The aim is to prepare judges for the flood of cases involving genetic evidence that soon will enter the nation's courtrooms. 

    Information Resources 
    In keeping with its goals, HGMIS produces the following information resources in print and on the Web: 

    Human Genome News (HGN). A quarterly forum for interdisciplinary information exchange, HGN uniquely presents a broad spectrum of topics related to the Human Genome Project in a single publication. Articles feature topics that include project goals, progress, and direction; available resources; applications of project data and resources to provide a better understanding of biological processes; related or spinoff programs; medical uses of genome data; ethical, legal, and social considerations; legislative updates; other publications; meeting calendars; and funding information. Most HGN articles also contain sources of additional information. In May 1997, DOE acknowledged the newsletter's value by presenting an exceptional service award to HGN's managing editor at a symposium celebrating 50 years of biological and environmental research. 

    Among 14,000 domestic and foreign HGN subscribers are genome and basic researchers at universities, national laboratories, nonprofit organizations, and industrial facilities; educators; industry representatives; legal personnel; ethicists; students; genetic counselors; medical professionals; science writers; and other interested individuals. All 41 issues of HGN, indexed and searchable, are accessible via the HGMIS Web site. 
    Other Publications. HGMIS also produces the DOE Primer on Molecular Genetics, progress reports on the DOE Human Genome Program, Santa Fe contractor-grantee workshop proceedings, one-page topical handouts, and other related resource documents. Expanded and revised by HGMIS from an earlier DOE document, the DOE Primer on Molecular Genetics continues to be in demand. It is used as a handout for genome centers; a resource for new staff training by companies that make products for genome scientists; and an educational tool for teachers, genetic counselors, and such organizations as high schools, universities, and medical schools for student and continuingeducation curricula. More than 35,000 hard copies have been distributed. The primer also is available in several formats at the HGMIS Web site, including an Adobe Acrobat version that can be used to print "originals" from users' printers. 

    Distribution of Documents. HGMIS has distributed more than 65,000 copies of items requested by subscribers, meeting attendees, and managers of genetics meetings and educational events. These items include HGN, program and workshop reports, DOENIH 5year plans, DOE Primer on Molecular Genetics, and To Know Ourselves. On request, HGMIS supplies multiple copies of publications for meetings and educational purposes. 

    Electronic Communications. In November 1994, HGMIS began producing a comprehensive, textbased Web server called Human Genome Project Information, which is devoted to topics relating to the science and societal issues surrounding the genome project. In July 1997, this site was divided to better serve the two diverse audience categories that represent the majority of users: scientists and the public. The sites contain more than 1700 text files that are accessed over 1.2 million times each year. Each month, about 10,000 host computers connect to the HGMIS sites directly and through more than 1000 other Web sites. In addition, HGMIS links to the National Institutes of Health and international Human Genome Organisation sites, as well as to sites dedicated to education and to the ethical, legal, and social implications of the Human Genome Project. 

    All HGMIS publications are published on the Web site, along with such DOE-sponsored documents as Your Genes, Your Choices; the Genetic Privacy Act; and historical and other documents pertaining to the Human Genome Project. HGMIS collaborates with the Einstein Institute for Science, Health, and the Courts to produce CASOLM, the online magazine for judicial education in genetics and biomedical issues. HGMIS also maintains the Genetics section of the Virtual Library from CERN (Switzerland) and the DOE Human Genome Program pages and moderates the BioSci Human Genome Newsgroup. 

    Information Source 
    HGMIS answers individual questions and supplies general information about the Human Genome Project by telephone, fax, and email and, as appropriate, links scientists with questions to appropriate Human Genome Project contacts. HGMIS staff exchange ideas and suggestions with investigators, industry representatives, and others when attending occasional scientific conferences and genomerelated meetings and displaying the DOE Human Genome Project traveling exhibit. HGMIS staff also make presentations on the Human Genome Project to educational, judicial, and other groups. 
    HGMIS resources serve as a primary source for the popular media and for disciplinespecific publications that broaden the distribution of genome project information by extracting and reprinting from HGMIS resources and by linking to various parts of the HGMIS Web site. 

    HGMIS continuously monitors changes in the direction of the international Human Genome Project and searches for ways to strengthen the content relevancy of the newsletter, the Web site, and other services. 

    DOE Contract No. DE-AC05-96OR22464. 


    Human Genome Program Coordination 
    Sylvia J. Spengler 
    Lawrence Berkeley National Laboratory; Berkeley CA 94720 
    510/486-4879, Fax: -5717, sjspengler@lbl.gov  
    http://www.lbl.gov/Education/ELSI 

    The DOE Human Genome Program of the Office of Health and Environmental Research (OHER) has developed a number of tools for management of the Program. Among these was the Human Genome Coordinating Committee (HGCC), established in 1988. In 1996, the HGCC was expanded to a broader vision of the role of genomic technologies in OHER programs, and the name was changed to reflect this broadening. The HGCC is now the Biotechnology Forum. The Forum is chaired by the Associate Director, OHER. Members of the Human Genome Program Management Task group are ex officio members, as are members of the Health and Environmental Research Advisory Committee's subcommittee on the Human Genome. Responsibilities of the Forum include: assisting OHER in overall coordination of DOEfunded genome research; facilitating the development and dissemination of novel genome technologies; recommending establishment of ad hoc task groups in specific areas, such as informatics, technologies, model organisms; and evaluation of progress and consideration of longterm goals. Members also serve on the Joint DOENIH Subcommittee on the Human genome, for interagency coordination. The coordination group also participates in interface programs with other facilities and provides scientific support for development of other OHER goals, as requested. 



    Support of Human Genome Program Proposal Reviews 
    Walter Williams 
    Education/Training Division; Oak Ridge Institute for Science and Education; Oak Ridge, TN 37831-0117 
    423/576-4811, Fax: /241-2727, williamw@orau.gov 

    The Oak Ridge Institute for Science and Education (ORISE), operated by Oak Ridge Associated Universities, provides assistance to the DOE Office of Health and Environmental Research in the technical review of proposals submitted in response to solicitations by the DOE Human Genome Program. ORISE staff members create and maintain a database of all proposal information; including abstracts, relevant names and addresses, and budget data. This information is compiled and presented to proposal reviewers. Before review meetings, ORISE staff members make appropriate hotel and meeting arrangements, provide each reviewer with proposal copies and evaluation guidelines, and coordinate reviewer travel and honoraria payment. Onsite meeting support includes collecting all reviewer evaluation forms and scores, entering reviewer scores into the database, preparing appropriate reports, providing onsite computer support, and handling all logistical issues. Other support includes assistance with program advertising and preparation of reviewer comments following each review. ORISE may also assist with pre- and post-review activities related to conferences, seminars, and site visits. 

    DOE Contract No. DE-AC05-76OR00033. 



    Former Soviet Union Office of Health and Environmental Research Program 
    James Wright 
    Education/Training Division; Oak Ridge Institute for Science and Education; Oak Ridge, TN 37831-0117 
    423/576-1716, Fax: /241-2727, wrightj@orau.gov 

    The Former Soviet Union Office of Health and Environmental Research Program, sponsored by the U.S. Department of Energy, Office of Health and Environmental Research, recognizes outstanding scientists in the field of health and environmental research from the independent states of the former Soviet Union. The program fosters the international exchange of new ideas and innovative approaches in health and environmental research; strengthens ties and encourages continuing collaboration among Russians and U.S. scientists; and establishes and maintains environmental research capability in the former Soviet Union. The program has supported more than 23 Russian principal investigators and approximately 110 other research associates in Moscow, St. Petersburg, and Novosibirsk. More importantly, the program has enabled many high quality Russian biological, genome informatics, physical mapping and mutagenesis detection, human genetics, biochemistry, DNA sequencing technology, protein analysis, molecular genetics, and other related research infrastructures to continue operating in an uncertain economic environment. 

    DOE Contract No. DE-AC05-76OR00033. 


    Note:  The proceedings of the 1997 DOE Human Genome Program Contractor-Grantee Workshop VI, which include updated research abstracts, can be found at:  
    http://www.ornl.gov/hgmis/publicat/97santa/santafe.shtml  



 
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