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The successful completion of the HGP in 2003 set the stage for making use of the immense potential inherent in knowledge of the complete DNA sequence of the human genome to be applied for the improvement of human health and well-being. In an effort to outline a path forward, the Vision Document (Nature 422,835-847 (2003)) broadly outlined three areas that need to be addressed: (1) elucidating the structure and function of genomes; (2) translating genome-based knowledge into health benefits; and (3) promoting the use of genomics to maximize benefits and minimize harms. The latter area relates closely to NHGRI’s Ethical, Legal and Social Implications (ELSI) Program. The research topics encompassed by this area have traditionally been included in a separate program announcement. However, given the growing interrelatedness of genomics to research in humans and to applications in health care and other settings, it has become increasingly clear that the investigation of ELSI issues cannot be separated from the genomic research that generates these issues. As a result, the ELSI research agenda is described in this NHGRI-wide announcement, as well as in a separate ELSI-specific Program Announcement The purpose of this document is to provide information to investigators about the breadth of NHGRI’s research interests and is very similar the Institute’s general funding opportunity announcements ( guide/pa-files/PA-07-458.html and When appropriate, NHGRI will publish Requests for Applications that will be used to stimulate research in specific areas, to fill gaps in research knowledge, or to generate community resources that will further the mission of genomics or ELSI research. The following are areas of high interest for investigator-initiated applications; they are not listed in priority order. Technology and Methods Development Technology development in DNA sequencing and genotyping are examples of activities that have changed the nature of what scientific research questions are practical to address, have enabled new approaches, and have potentiated the development of new community resource data sets. Many areas of critical importance to the realization of the genomics-based vision for biomedical research require continued technological and methodological developments before pilots and then large-scale approaches can be attempted. Accordingly, the NHGRI will continue to support the development of new, fundamental technologies in all areas of genomics. Other important areas in which technology development applications would be responsive to this Program Announcement include (but are not limited to) analyses of gene expression, discovery and characterization of genetic variation; identification of the genetic contributions to health, disease, and drug response; statistical analytic methods for understanding human genomic variation and its relationship to health and disease; and chemical genomics. There is also continued interest in supporting technology development for the comprehensive discovery of functional elements in the human and model organism genomes, and new DNA sequencing technology. Many of these assays would benefit from the ability to work with very small amounts of starting material, to the limit of single cells. The Institute is also interested in contributing selectively to the development of new and needed technology in related areas, such as proteomics and systems biology research, when NHGRI funding can be used to further a truly unique development that will have a significant impact on the field. Bioinformatics Genome databases are essential resources for the biological and biomedical research communities. The creation and maintenance of effective databases are as important a component of research funding as data generation. The NHGRI has been a primary source of support for several major genetics/genomics-oriented databases and will continue to foster technology improvements to develop effective methods for integrating, displaying, and providing access to genomic information. Projects addressing new database technologies to improve the utility of genome databases would be appropriate as applications. Computational Biology The NHGRI has supported the generation of many large-scale genomic data sets such as genome sequence, haplotype maps, transcriptome measurements, protein interactions, and functional elements. NHGRI encourages the development of new computational methods and tools to analyze these and other large datasets, and to extract useful biological information from them. Where possible, existing community data standards and methods for data exchange should be used in the development of these new methods and tools. Further information on programs related to genomic databases and computational biology is available at this website: The development of new sequencing technologies has dramatically increased the amount of data produced for genomics. NHGRI is interested in supporting new computational applications for the production and analysis of data from these new sequencing platforms. These applications would include better computational methods for storage, compression and transfer of large datasets by biomedical researchers along with better analysis methods to interpret these data and integrate with other data types. Some genomic data analysis and display tools have been developed that already are used in the community that would benefit from additional work to support broader dissemination, for example making them efficient, reliable, robust, well-documented, and well-supported. NHGRI will support projects to extend the support for these informatics tools to make them readily adopted by any biomedical research laboratory that wishes to use genomic technologies to address biological questions. Population Genomics This is an emerging discipline that applies genomic technologies, such as genome-wide association testing and sequencing, to population studies to identify gene regions, genes, or variants affecting common etiologically complex conditions and predict individual risk. It also investigates the value of applying genomic methods in clinical care for the diagnosis, treatment, and prevention of complex diseases. The research scope of Population Genomics at NHGRI includes: developing resources and statistical methods for observational studies and clinical trials incorporating advanced genomic technologies; conducting proof-of-principle studies that apply genomic technologies to particular conditions that can be generalized to a broader range of conditions (e.g., translating genomic information to clinical care); and developing research methods and infrastructure needed for future epidemiologic studies of genetic and environmental contribution to disease in the United States, including a large, prospective cohort study of genes and environment. For additional information about Population Genomics within NHGRI, please visit this website: Ethical, Legal and Social Implications NHGRI supports studies that examine issues and, where appropriate, develop policy options in the following areas: 1) the translation of genomic information to improved human health; 2) the conduct of genomic research—particularly genome-wide association studies, medical sequencing and clinical studies; 3) intellectual property issues surrounding access to and use of genomic information; 4) the use of genomic information and technologies in non-health care settings; 5) the impact of genomics on concepts of race, ethnicity, kinship and individual and group identity; 6) the implications, for both individuals and society, of uncovering genetic contributions not only to disease but also to 'normal' human traits and behaviors; and 7) how different individuals, cultures, and religious traditions view the ethical boundaries for the uses of genetics and genomics. Several of these topics are closely integrated with genomic research, which is why they are described here. Other Research Topic(s) Within the Mission of the Institute Individuals interested in any of the above listed areas are encouraged to contact the NHGRI staff listed below. For more specific information about areas of interest to the NHGRI, please visit our home page at For additional information on research topics, contact: All Research Topics Except ELSI Bettie J. Graham, Ph.D. National Human Genome Research Institute 301-496-7531, Fax: 301-480-2770 Email: ELSI Research Topics Jean E. McEwen, J.D., Ph.D. National Human Genome Research Institute 301-402-4997, Fax: 301-402-1950 Email: For administrative and business management questions, contact: Ms. Cheryl Chick Chief, Grants Management Officer National Human Genome Research Institute 301-435-7858, Fax: 301-402-1951 Email:
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