NSF 96-112 -- Pilot Projects for a Human Genome Diversity Project

Special Competition

Directorate for Social, Behavioral and Economic Sciences

Directorate for Biological Sciences

Deadline: September 30, 1996


Genetic variation among individuals and populations contains much information about historical and genetic processes. Integrating this genetic information with anthropological, historical, demographic and linguistic information will improve understanding of human population history, relationships among populations, the operation of evolutionary mechanisms, and susceptibility and resistance to disease.

Advances in molecular biology now allow detailed analysis of variation in the human genome. Although this variation has long been studied by anthropologists and biologists, previous studies were not coordinated, leading to datasets that were neither easily accessible nor comparable. Samples gathered with considerable difficulty and expense for genetic analysis were not fully utilized.

In 1992, in response to the scientific community's recognition of such deficiencies and of the opportunities provided by new genetic techniques, a series of workshops began to evaluate strategies for undertaking a Human Genome Diversity Project (HGDP). Workshop funding was provided by the National Science Foundation, the National Institutes of Health (General Medical Sciences, the Center for Human Genome Research), and the Department of Energy, through an award to a group of anthropologists and geneticists. The four workshops focused on:

A fifth workshop was held at NSF in August, 1995, to discuss near- and long-term biotechnological developments that might contribute to the success of a HGDP.

The Summary Document from the fourth workshop discusses the goals and many of the scientific, organizational, ethical, and legal issues associated with a HGDP. [The HGDP Summary Document and Ethics Protocols are available via the Internet at http://www-leland.stanford.edu/g roup/morrinst and are available from the Program Officers listed below.] As described in the workshop reports, the HGDP would be a complex international project, that would need to proceed in scientifically, legally, and ethically valid ways. It would establish repositories around the world for tissue and DNA samples from a broad range of human populations. A standard set of genes would be analyzed, and a standard set of cultural and phenotypic data would be collected, as well as data specific to particular groups. The samples and associated information would be broadly accessible to researchers worldwide, for current questions and ones yet to be framed.

The workshops concluded that pilot projects should be undertaken in specific areas prior to launching a full-scale HGDP. The areas are: improving DNA techniques, and clarifying cross-cultural ethical and legal issues. Research advances in these areas will be useful for other sampling studies and will be critical for the success of a HGDP.

Goals and Requirements

The National Science Foundation is soliciting proposals for pilot projects in the two areas identified in the workshops that will be necessary for undertaking a HGDP. These specific areas are outlined below, with examples of the types of projects that would be appropriate.

Improving techniques for collecting, preserving, amplifying, and selecting DNA markers. Improvements are needed to create affordable, distributable DNA banks. Cell transformation is still expensive and logistically challenging, especially when samples are collected far from laboratories with cell transformation capabilities. PCR methods have reduced costs, but more work is needed for difficult samples, for generating haplotype information, and for continuing the use of classic marker systems such as blood groups. Although markers that are variable only in particular populations are useful, markers that are sufficiently variable in populations around the world are most informative for many general questions, and could form a core set of markers for a HGDP. Examples of pilot projects include:

Research on ethical and legal issues in a cross-cultural setting. The pilot projects should investigate what is important to populations in their decision process about cooperating with studies involving collection of tissue samples and cultural information. A field component is desirable but not required. Projects should address culturally relevant concerns, such as identifying culturally appropriate contacts, maintaining continued interaction, negotiating contracts, and identifying participant concerns regarding use of data and samples.

Examples of pilot projects include:

Any sample collection or data gathering must be done with the dual purposes of investigating one or more of the HGDP-relevant topics outlined above AND addressing a specific question of immediate scientific interest. If tissue samples or cultural data are to be collected for any pilot project, then arrangements for their storage, analysis, and distribution should be described.

The questions presently proposed for a full-scale HGDP deal with topics such as population history, relatedness among populations, mechanisms of evolution, and disease resistance and susceptibility. However, a major goal of a HGDP would be to develop databases and research resources that could be used to investigate new questions in the future. Therefore, in pilot projects that entail sampling, permission must be obtained from those sampled to allow the data and samples collected to be used to address the investigators' current research question as well as to become part of a research resource that might be used to investigate as-yet-unspecified research questions in the future. In all cases, sampling must be sensitive to local cultural, ethical, and legal concerns. Safeguards that ensure adherence to the desires of donors must be discussed in the proposal.

Projects in either area must include an explanation of how their goals relate to a full-scale HGDP. At the end of the project a five-to-ten-page report describing the methods and results must be submitted to the Physical Anthropology Program. Projects may be conducted in the US or with collaborators in other countries.

Proposals involving research with human subjects must ensure that subjects are protected from research risks in conformance with the Common Rule (Federal Policy for the Protection of Human Subjects, 45 CFR 690). All projects involving human subjects must either: (1) have approval from the organization's Institutional Review Board (IRB) before issuance of an NSF award; or (2) identify the applicable subsection exempting the proposal from IRB review, as established in section 101(b) of the Common Rule. The box for 'Human Subjects' should be checked on the NSF Form 1207 with the IRB approval date (if available) or exemption subsection from the Common Rule identified in the space provided. NSF encourages inclusion of the IRB approval form (in Section I of the proposal) with the proposal submission.

Proposal Submission

Proposals must be received by 5 p.m. September 30, 1996. In the top left box on the cover page put 'Physical Anthropology Program, pilot HGDP.' Submit sixteen (16) copies of the proposal, one of which is signed by the Principal Investigator(s) and Authorized Institutional Representative, and includes the single copy of NSF Form 1225, to:

Proposal Solicitation No. NSF 96-112
National Science Foundation PPU
4201 Wilson Blvd., Room P60
Arlington, VA 22230

Under separate cover, submit two (2) additional copies of the proposal directly to:

Physical Anthropology Program
National Science Foundation
4201 Wilson Blvd., Room 995
Arlington, VA 22230

Researchers considering submitting a proposal should call Dr. Weiss or Dr. Brooks early in the planning process. Proposals must adhere to the current guidelines for proposal preparation that are specified in the Grant Proposal Guide (GPG, NSF 95-27, August 1995).

Proposal Evaluation

Proposals will be evaluated by a special panel and external reviewers, according to the standard criteria (GPG page 13) of research performance competence, intrinsic merit of the research, utility or relevance of the research (to other sampling studies as well as to a HGDP), and effect of the research on the infrastructure of science and engineering, as well as according to how well they address a topic in one of the identified areas and contribute to the development of a HGDP.


Decisions will be announced in February, 1997. The awards will be made for one to two years. This competition has $600,000 available. Up to eight awards are anticipated, with total award amounts (including indirect costs) ranging from $15,000 to $150,000.

Grants awarded as a result of this solicitation are administered in accordance with the terms and conditions of NSF GC-1, 'Grant General Conditions,' or FDP-II, 'Federal Demonstration Project General Terms and Conditions,' depending on the grantee organization.


Questions should be addressed to:

Dr. Mark Weiss
Program Director, Physical Anthropology Program
Division of Social, Behavioral, and Economic Research
National Science Foundation, Room 995
4201 Wilson Blvd.
Arlington, VA 22230
(703) 306-1758

Dr. Lisa Brooks
Program Director, Population Biology Program
Division of Environmental Biology
National Science Foundation, Room 635
4201 Wilson Blvd.
Arlington, VA 22230
(703) 306-1481 x 6438

The Foundation provides awards for research in the sciences and engineering. The awardee is wholly responsible for the conduct of such research and preparation of the results for publication. The Foundation, therefore, does not assume responsibility for the research findings or their interpretation.

The Foundation welcomes proposals from all qualified scientists and engineers and strongly encourages women, minorities, and persons with disabilities to compete fully in any of the research related programs described here. In accordance with federal statutes, regulations, and NSF policies, no person on grounds of race, color, age, sex, national origin, or disability shall be excluded from participation in, be denied the benefits of, or be subject to discrimination under any program or activity receiving financial assistance from the National Science Foundation.

Facilitation Awards for Scientists and Engineers with Disabilities (FASED) provide funding for special assistance or equipment to enable persons with disabilities (investigators and other staff, including student research assistants) to work on NSF projects. See the program announcement or contact the program coordinator at (703) 306-1636.

This program is described in the Catalog of Federal Domestic Assistance Number 47.075, Social, Behavioral, and Economic Sciences; 47.074, Biological Sciences.

Privacy Act and Public Burden. The information requested on proposal forms is solicited under the authority of the National Science Foundation Act of 1950, as amended. It will be used in connection with the selection of qualified proposals and may be disclosed to qualified reviewers and staff assistants as part of the review process; to applicant institutions/grantees; to provide or obtain data regarding the application review process, award decisions, or the administration of awards; to government contractors, experts, volunteers, and researchers as necessary to complete assigned work; and to other government agencies in order to coordinate programs. See Systems of Records, NSF 50, Principal Investigators/Proposal File and Associated Records, and NSF-51, 60 Federal Register 4449 (January 23, 1995). Reviewer/Proposal File and Associated Records, 59 Federal Register 8031 (February 17, 1994). Submission of the information is voluntary. Failure to provide full and complete information, however, may reduce the possibility of your receiving an award.

Public reporting burden for this collection of information is estimated to average 80 hours per response, including the time for reviewing instructions. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden, to Herman G. Fleming, Reports Clearance Officer, Contracts, Policy, and Oversight, National Science Foundation, 4201 Wilson Boulevard, Arlington, VA 22230.

The National Science Foundation has TDD (Telephonic Device for the Deaf) capability, which enables individuals with hearing impairment to communicate with the Foundation about NSF programs, employment, or general information. To access NSF TDD dial (703) 306-0090; for FIRS, 1-800-877-8339.