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ARRA Investments in Genomic Function


Public Health Burden
Information about how the genome performs its multiple, complicated functions is necessary to understand the cellular behavior that underlies health and disease. Improved techniques and strategies for cost-effective, high-throughput, identification and analysis of genes, coding regions, and other essential elements of entire genomes will lead to information vital to research that will increase understanding of disease and improve human health.

Genomic Function
To understand fully the functional elements of the human genome and how they relate to disease, ARRA is funding research to develop new, more efficient and robust technologies that have the potential for large-scale, cost-effective application to the analysis of genome function.

ARRA funds are now being used to fund the following projects:
  • The study of functional elements in the human genome underway in the ENCODE (Encyclopedia of DNA Elements) project is being supplemented and informed by studies of the functional elements in the D. melanogaster (fly) and C. elegans (worm) genomes in the modENCODE (model organism ENCODE) project. By virtue of their smaller genome size and ease of use in experimentation, studies of these two workhorse model organisms can reveal new insights into the processes of global gene regulation and embryonic development, and enable experimental studies of gene function and regulation that are not possible in mammalian systems. One ARRA grant aims to enhance the value of the primary modENCODE datasets by creating a Data Analysis Center (DAC). The modENCODE DAC will support, facilitate, and enhance integrative analyses of the modENCODE data, and will apply high-throughput, cost-efficient approaches to generate a catalog of the functional elements in these model organisms. A wide range of investigators will use the modENCODE catalogue to reveal new insights into the biology and gene regulation of genomes, thereby catalyzing more rapid advances in biomedical research.1
  • Another ARRA project will seek a better understanding of genomic regulatory mechanisms, by finding the basic control pathways that determine how, when, and where fundamental processes are carried out in the cell. The discovery of causal “structure-function” relationships in the DNA code that lead to cellular control circuitry is a powerful approach to devising general solutions to complex disease pathologies.2
  • Every person differs in his or her response to pathogens and in the likelihood that he or she will develop a common disease such as cancer, heart disease, or diabetes. Individual susceptibility to disease is determined in part by genetic variation within our DNA code. To understand how such variants specifically contribute to disease susceptibility and progression, which will inform new prevention and treatment strategies, we need to identify the biological functions of all DNA sequences. Through innovative approaches to study the regulatory regions of the mouse and the human genomes, researchers will help to produce valuable new and better DNA “maps” of biological functional elements across the genome sequences.3



  1. 1RC2HG005639-01 -- A Data Analysis Center for Integration of Fly and Worm ENCODE Datasets--Kellis, Manolis (MA)
  2. 1RC1HG005332-01 -- Novel Methods for Vast Increase in Throughput and Accuracy of Cis-reg Analysis--Davidson, Eric (CA)
  3. 1RC2HG005573-01 -- Enhance human ENCODE by function comparisons to mouse--Hardison, Ross (CA)


 
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