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DOE Research Clearing the Way for Medical Solutions
by Sam Rosenbloom on Tue, 1 Oct, 2013

The Randolph-Sheppard Act was signed into law by President Roosevelt in 1936. The act established a priority for blind vendors on Federal property.  Nearly 77 years later, walking toward the snack stand operated by a blind vendor, the irony always occurs to me as I read an unusual brass plaque on the hallway that commemorates the origin of the Human Genome Project and its champion, Dr. Charles DeLisi. The irony is that Rick, the blind vendor who could one day benefit from that project, cannot see the plaque. 

It takes individuals with an almost futuristic vision, able to counter criticism by those with less foresight, to take leaps of faith to establish such a far-reaching effort such as the Human Genome Project. Dr. DeLisi was apparently such a person. 

Dr. DeLisi, then Director of the Office of Health and Environmental Research at the Department of Energy, recognized the available technology and came up with the idea to sequence the human genome in 1985.  He formally funded the program in 1987.  With the involvement of the National Research Council, an arm of the National Academy of Sciences, Congress eventually approved longer-term budgets that included the National Institutes of Health.   It is often the role of government to pursue long-term research, spanning decades, where the prospect of dividends are high risk and often times diffused throughout society.  Good examples of government foresight are the development of the Internet by the Department of Defense and communications technology developed by NASA. These technologies are imbedded in our very lifestyle … so much so that our quality of life could not be imagined without them.  The results are in every smart phone. Yet to a single generation of our predecessors the technology would seem like fiction.

In recent years, we have witnessed the synthesis of multidisciplinary efforts in molecular biology to develop medications that operate directly on genetic mutations that cause the most debilitating and horrendous diseases. These efforts are made possible through the products that evolved from the Human Genome Project. Duchenne muscular dystrophy is one such disease that affects children, resulting in paralysis and death. Duchenne muscular dystrophy may be the first disease where the causative mutation is identified; molecules are modeled to interact with the mutated RNA and finally a drug is developed and approved to treat the disease. 

It is possible to imagine a day when Rick might have his sight restored and he will be able see the plaque. Perhaps his sight will be restored through the artificial retina project, another DOE project made possible through the early collaboration between the DOE Office of Science and six DOE National Laboratories, four universities and a private sector company.  It is also possible that the underlying genetics of the blindness will be addressed by those who use the tools made possible by the Human Genome Program.  

One thing for sure is that the expectations of research are becoming higher and higher, both in the speed of development and the complexity of the task. To a large degree, these expectations of basic research can be met because of the comprehensive access to information that DOE enables through a multiagency long-term effort to develop an integrated information infrastructure that is openly available to all.  This essential work is being performed at the DOE Office of Scientific and Technical Information (OSTI).

 

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About the Author

Sam Rosenbloom
Nuclear Engineer, Department of Energy