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U.S. Department of Energy
Human Genome 1993 Program Report

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Date Published: March 1994

The electronic form of this document may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome 1993 Program Report, 1994.


Contents

Human Genome 1993 Program Report

Program Management

DOE Human Genome Research Centers
-------Lawrence Berkeley Laboratory
-------Lawrence Livermore National Laboratory
-------Los Alamos National Laboratory
Abstracts of DOE-Funded Research

Index to Principal and Coinvestigators Listed in Abstracts

Acronym List


Preface

The purpose of this report is to update the Human Genome 1991-92 Program Report (DOE/ER-0544P, published June 1992) and provide new information on the DOE genome program to researchers, program managers, other government agencies, and the interested public. This FY 1993 supplement includes abstracts of 60 new or renewed projects and listings of 112 continuing and 28 completed projects. These two reports, taken together, present the most complete published view of the DOE Human Genome Program through FY 1993.

Research is progressing rapidly toward the 15-year goals of mapping and sequencing the DNA of each of the 24 different human chromosomes. The DOE human genome centers at Lawrence Berkeley Laboratory, Lawrence Livermore National Laboratory, and Los Alamos National Laboratory serve as the focus of much of the multidisciplinary research, and their efforts are complemented by those at other DOE-supported laboratories and more than 80 universities, research organizations, and foreign institutions.

DOE welcomes general or scientific inquiries concerning its Human Genome Program. Announcements soliciting research applications appear early in the year in the Federal Register, Science, and other publications. The deadline for formal applications is generally midsummer for awards to be made the next fiscal year, and submission of preproposals in areas of potential interest is strongly encouraged. Further information may be obtained by contacting the program office (301/903-6488, Fax: -8521, Internet: genome@er.doe.gov).

David A. Smith, Director
Health Effects and Life Sciences Research Division
Office of Health and Environmental Research
Office of Energy Research
U.S. Department of Energy


Program Management

The Human Genome Program is a major component of the genetics research programs maintained by the DOE Office of Health and Environmental Research (OHER). A part of the DOE Office of Energy Research, OHER was directed by David J. Galas from April 1990 to August 1993. Aristides Patrinos, Director of the OHER Environmental Sciences Division, is Acting Associate Director of OHER, and John C. Wooley is Deputy Associate Director. The Human Genome Program is administered through the Health Effects and Life Sciences Research Division, directed by David A. Smith.

Resource Allocation

In FY 1993 DOE program expenditures were over $64 million and included $2.3 million in capital equipment expenditures. The table below categorizes the 1993 distribution of funds. The presidential (proposed) budget for the program in FY 1994 is nearly $68 million.

Types of Institutions Conducting DOE-Sponsored Genome Research
  

8 DOE national laboratories 4 Other federal organizations 47 Academic sites 15 Private-sector institutions 15 Companies, including SBIR [Small Business Innovation Research) 11 Foreign institutions (8 Russian, 2 Canadian, 1 Australian)

Human Genome Program Funds Distribution in FY 1993 (in $K) by Organization and Project Types
(Commitments as of December 1993)

DOE laboratories --
Mapping $19634
Sequencing $4426
Instrumentation Development $8841
Informatics $6593
ELSI $366
Total $39860
[Percent of Total] [63.8]
Academic sites --
Mapping $3836
Sequencing $2140
Instrumentation Development $4672
Informatics $5278
ELSI $746
Total $16672
[Percent of Total] [26.7]
Institutions (nonprofit) --
Mapping $2390
Sequencing $0
Instrumentation Development $50
Informatics $653
ELSI $622
Total $3715
[Percent of Total] [5.9]
NIH laboratories --
Mapping $190
Sequencing $0
Instrumentation Development $0
Informatics $85
ELSI $35
Total $310
[Percent of Total] [0.5]
Companies, including SBIR(1) --
Mapping $75
Sequencing $575
Instrumentation Development $1075
Informatics $70
ELSI $102
Total $1897
[Percent of Total] [3.0]
All organizations --
Mapping $26125
Sequencing $7141
Instrumentation Development $14638
Informatics $12679
ELSI $1871
Total $62454(2)
[Percent of Total] [100]
[Percent of Total] --
Mapping [41.8]
Sequencing [11.4]
Instrumentation Development [23.4]
Informatics [20.3]
ELSI [3.0]
[Percent of Total] [100]

(1)Includes $1757 thousand in SBIR grants.
(2)Total allocation of $64 million less capital equipment funds of $2.3 million.
ELSI=Ethical, Legal, and Social Issues.

Human Genome Coordinating Committee and Human Genome Program Management Task Group

Program coordination is the responsibility of two groups: the Human Genome Coordinating Committee (HGCC) and the Human Genome Program Management Task Group (see below for member lists of both groups]. HGCC, composed of contractor/grantee scientists, provides OHER with external expertise in mapping and sequencing, development and implementation of new technologies, and informatics. HGCC responsibilities include assisting OHER with overall coordination of DOE-funded genome research; facilitating the development and dissemination of novel genome technologies; ensuring proper management and sharing of data and samples; cooperating with other national and international efforts; and helping OHER establish ad hoc task groups to analyze specific research areas such as ethical, legal, and social issues. HGCC also discusses informatics requirements of DOE programs; mapping and sequencing technologies; use of the mouse as a model organism; costs of resource distribution; use of flow-sorting facilities; research progress; and long-term goals.

The Human Genome Program Management Task Group administers the genome program and its evolving needs and reports to the OHER Director. The task group arranges for periodic workshops and coordinates peer review of research proposals, administration of awards, and collaboration with all concerned agencies and organizations.

Human Genome Coordinating Committee

  • Chair: David A. Smith, Office of Health and Environmental Research, DOE
  • Elbert W. Branscomb, Biologist and Principal Investigator, Human Genome Center Informatics, Lawrence Livermore National Laboratory
  • Charles R. Cantor, Director, Center for Advanced Research in Biotechnology, Boston University
  • Anthony V. Carrano, Director, Human Genome Center and Associate Director, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory
  • C. Thomas Caskey, Director, Institute for Molecular Genetics, Baylor College of Medicine
  • Raymond F. Gesteland, Professor and Cochair, Department of Human Genetics, University of Utah; Investigator, Howard Hughes Medical Institute Laboratory for Genetic Studies at the Eccles Institute, University of Utah
  • Leroy E. Hood, William Gates III Professor of Biomedical Sciences and Chair, Department of Molecular Biotechnology, University of Washington; Director, National Science Foundation Science and Technology Center
  • David T. Kingsbury, Director, Genome Data Base, Johns Hopkins University
  • Robert K. Moyzis, Director, Center for Human Genome Studies, Los Alamos National Laboratory
  • Jasper Rine,* Director, Human Genome Center, Lawrence Berkeley Laboratory
  • Lloyd M. Smith, Assistant Professor, Analytical Division, Department of Chemistry, University of Wisconsin, Madison
  • HGCC Executive Officer: Sylvia J. Spengler, Human Genome Center, Lawrence Berkeley Laboratory

*In January 1994 Mohandas Narla became Acting Director of the Lawrence Berkeley Laboratory Human Genome Center and a member of HGCC.

DOE Human Genome Program Management Task Group

Member; Specialty

  • David A. Smith, Chair; Molecular biology
  • Benjamin J. Barnhart; Genetics/Radiation biology
  • Daniel W. Drell; Biology/ELSI
  • Gerald Goldstein; Physical science/Instrumentation
  • Aristides Patrinos; Physical science
  • Robert J. Robbins; Bioinformatics
  • Murray Schulman; Radiation biology
  • Jay Snoddy; Molecular biology/Informatics
  • Marvin Stodolsky; Molecular biology
  • David G. Thomassen; Biochemistry
  • John C. Wooley; Computational Biology

All members of the DOE Human Genome Program Management Task Group are ex-officio members of HGCC.

Training: Human Genome Distinguished Postdoctoral Fellowships

OHER established the Human Genome Distinguished Postdoctoral Research Program in 1990 to support research on projects related to the DOE Human Genome Program. Current fellowship recipients and their host institutions are listed below. Fellows have the opportunity to participate in advanced genome-related research, interact with outstanding professionals, and become familiar with major programmatic issues. These fellowships complement the Alexander Hollaender Distinguished Postdoctoral Fellowships, which provide support in all areas of OHER-sponsored research. Both postdoctoral programs are administered by the Oak Ridge Institute for Science and Education, which is a university consortium and DOE contractor. For additional information, contact Linda Holmes at 615/576-4805, Fax: -0202.

DOE Human Genome Distinguished Postdoctoral Fellows

1992
Michael Smith (Salk Institute of Biological Studies)
Julia Parrish (Baylor College of Medicine)
David Lever (Duke University)
Rhett Affleck (Los Alamos National Laboratory)
Janet Warrington (University of California, San Francisco/Lawrence Berkeley Laboratory)
William Bruno (Los Alamos National Laboratory)

1993
Jeffrey Elbert (Oak Ridge National Laboratory)
John Kececioglu (University of California, Davis)
Mark Neff (Lawrence Berkeley Laboratory)


DOE/ER-0611P

U.S. Department of Energy
Office of Energy Research
Office of Health and Environmental Research
Washington, D.C. 20585
  

Please address queries to:

Human Genome Program
U.S. Department of Energy
Office of Health and Environmental Research
ER-72 GTN
Washington, DC 20585
301/903-6488, Fax: 301/903-8521
Internet: genome@er.doe.gov
  

Human Genome Management Information System Oak Ridge National Laboratory P. O. Box 2008 Oak Ridge, TN 37831-6050 615-576-6669, Fax: 615-574-9888 BITNET: bkq@ornlstc Internet: bkq@ornl.gov


Available to DOE and DOE contractors from the Office of Scientific and Technical Information; P. O. Box 62; Oak Ridge, TN 37831. Price information: 615/576-8401.

Available to the public from the National Technical Information Service; U.S. Department of Commerce; 5285 Port Royal Road; Springfield, VA 22161.

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.