Preface 



This nation's Human Genome Project is the first broadly based organized endeavor in 

 the biological sciences. Conceived in 1986. the program was initiated in 1987 as the 

 Human Genome Program of the U.S. Department of Energy (DOE) Office of Health 

 and Environmental Research (OHER). Since that time, it has grown significantly; in 

 1988 the National Institutes of Health also niitiated a human genome program. An 

 ambitious undertaking spanning the disciplines of biology, chemistry, physics, 

 engineering, mathematics, and information science, the national project has a well- 

 defined, long-range endpoint: to decipher the genetic code in the DNA of the entire 

 human genome. Having gathered support in Congress, the Executive Office, and the 

 scientific and commercial sectors, the project of mapping and sequencing the genome 

 has the momentum to make major advances in the knowledge and technologies that are 

 needed to understand the complexities of human cellular processes in a manner never 

 before possible. These advances will impact biological principles as well as the practice 

 of medicine, the growing biotechnology industry, and society. 



The project is unusual in that few existing strategies and technologies can be used to 

 achieve its goals. Indeed, the driving force within this endeavor is the development and 

 implementation of innovative, cost-effective methods and technologies for mapping, 

 sequencing, and interpreting the genome. As the.se developments take place, advances 

 in data analysis and database management will make map and sequence information 

 accessible. 



This document is a status report on DOE OHER's Human Genome Program and 

 includes a brief background to this agency's initiative, as well as an explanation of the 

 program's projected focus over the next 15 years. Of special interest are the section on 

 research highlights, the narratives on major genome research efforts conducted at three 

 of DOE's national laboratories, and the abstracts of work in progress. Figures and 

 captions provided by investigators give additional detailed information. 



Achievements were reported at the first DOE OHER workshop for grantees and 

 contractors of the Human Genome Program on November 4 and 5. 1989, in Santa Fe, 

 New Mexico. The presentations demonstrated that progress is being made in physical 

 mapping, DNA sequencing, and infonnatics. DOE plans to convene these workshops on 

 a continuing basis every 18 to 24 months. In the interim, this report and future revisions, 

 together with the bimonthly newsletter and special technical overviews will provide 

 both the interested scientist and layperson with information on developments in this 

 rapidly moving, multidisciplinary project. 



Benjamin J. Bamhart, Manager 



Human Genome Program 



Office of Health and Environmental Research 



Office of Energy Research 



U.S. Department of Energy 



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