Notice Number: NOT-HG-05-006
Release Date: August 2, 2005
Receipt Date: November 4, 2005
National Human Genome Research Institute (NHGRI), (http://www.genome.gov/)
The National Human Genome Research Institute is considering a program that would apply NHGRI's established large-scale sequencing capacity to problems of significant and direct medical interest. As part of these deliberations, the Institute is trying to determine the extent to which investigators who are working on projects to identify genetic variations that cause human Mendelian disorders have encountered a barrier to completing their projects, which could be overcome by the acquisition of genomic sequence data.
The NHGRI's human medical sequencing program is currently in the planning stage. Components being considered include, but are not limited to: identifying genomic variations that lead to Mendelian or complex genetic disorders; assessing the allelic spectrum of genetic disease; and further delineating the architecture of common variation to provide a better context for understanding genetic disorders. Through this RFI, NHGRI is specifically seeking preliminary information from the community regarding Mendelian disorders that could be appropriate subjects for a program to identify genetic changes correlating with disease. In principle, NHGRI could provide directed sequencing capacity to identify specific genetic changes associated with disease. This could be useful to investigators in a number of circumstances; for example cases where a disorder had been reliably mapped to an interval that is too large for the investigator to sequence, but not for a large-scale sequencing center (an interval of perhaps 10 Mb or less) or, cases in which an investigator has already re-sequenced a set of candidate genes in affected individuals without finding a sequence change that can be correlated with disease (implying that the relevant change resided in a noncoding region or at a distance from the candidate genes).
NHGRI invites investigators who are working to identify genetic variations causing human Mendelian disorders to provide the NIH with information about the status of their projects. The NHGRI is particularly interested in cases in which a major roadblock to completing those projects could be overcome by large-scale sequencing, and where the amount of sequencing required would be prohibitive to the individual investigator. Investigators who are not currently in such circumstances, but who work in this area, are also invited to comment.
Because the circumstances described above represent cases in which an investigator has reached a barrier to further progress, it is often not possible to find out about them through the literature. Through this RFI, the NHGRI seeks to identify as many such cases as possible to inform the Institute whether there are a sufficient number to justify a sequencing program to address them. Should there be a sufficient number, the information will also be used to help design critical aspects of the program, including the process by which projects will be selected and prioritized for entry into sequencing pipelines, and how interactions would occur between investigators and the centers carrying out the sequencing.
Specific questions to be answered are provided below. Respondents need not answer all questions. The deadline for submittal is November 4, 2005.
Please provide the following information:
A. Disorder and available samples
Responses may be sent by email to HGRFI@mail.nih.gov.
This Request for Information (RFI) is to gather information for planning purposes only and should not be construed as a solicitation or as an obligation on the part of the Government. The Government does not intend to award a cooperative agreement or grant on the basis of responses to this RFI nor otherwise pay for the preparation of any information submitted or for the Government's use of such information.
Acknowledgement of receipt of responses will not be made, nor will respondents be notified of the government's assessment of the information received. No basis for claims against the government shall arise as a result of a response to this request for information or the government's use of such information as either part of our evaluation process or in developing specifications for any subsequent announcement. Responses will be held in a confidential manner. Any proprietary information should be so marked.
For questions and further information please contact:
Adam L. Felsenfeld, Ph.D., Program Director
National Human Genome Research Institute
National Institutes of Health
5635 Fishers Lane Suite 4076, MSC 9305
Bethesda, Maryland 20892-9305
Phone: (301) 496-7531
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