The term "orphan diseases" refers not to the afflictions of parentless children, but to those health disorders - many of them extremely prevalent and disabling - that tend to be neglected by our great biomedical-research enterprise.
Examples include diabetes, which, though partially controllable with insulin, nevertheless spawns secondary effects that shorten by an average of one-third the life span of 10 million persons in this country; cystic fibrosis, which afflicts about one out of each 1,000 live births; schistosomiasis, a debilitating parasitic disease that affects some 200 million people in the Middle East, South America and Asia, and Chagas Disease, an organ-damaging parasitic disorder with which approximately seven million persons in Brazil alone are afflicted.
Credit the coinage of "orphan diseases" to Dr. Anthony Cerami, head of the Laboratory of Medical Biochemistry at Rockefeller University, and heed what he writes in an article in the current issue of The Sciences, the journal of the New York Academy of Sciences. Cerami, situated at one of the most esteemed institutions of biomedical research, is not simply discussing the scientific and technical aspects of particular diseases; nor is he merely joining in the ongoing clamor for more money for this or that line of research.
Rather, in a rare departure from the form normally followed in such discussions, he illuminates just why it is that the laboratories of both government, academe and the pharmaceutical industry manage to remain aloof from some of the most serious afflictions of mankind.
"Unlike cancer, heart disease and ulcers," Cerami states, "there are some diseases that just don't pay. The U.S. pharmaceutical industry has shied away from investing the large amounts of capital necessary to develop drugs for them, since it would be very difficult to recoup the money required."
The government's National Institutes of Health would normally be expected to fill the void, he continues. "But over the past 30 years, the NIH has failed to be active against orphan diseases. Why has it not taken over the reins?
"First, the NIH has not harnessed experienced people to work on drug development. Nor has it invested the money required to do the work. And then there is the great problem of risk: Whenever new drugs are developed, there is always the risk of potential harm to patients under study. Consequently, most NIH administrators are reluctant to become involved."
To which might be appended that NIH being the kind of institutional creature that it is - superb at fundamental science, but, in general, psychologically detached from concern with sickness - what's needed is a new organizational link between science and medical treatment. The NIH Clinical Center does, of course, serve in that role, but it is only a small part of the nationwide research empire that is head-quartered in Bethesda.
As Cerami points out in his article, his own laboratory is seeking to exploit the scientific revolution of the past 30 years "not only to design new therapeutic agents but to gain a better understanding of the way in which... orphan diseases operate. Certainly, ours is quite a modest approach and many more workers, drawn from the ranks of laboratories all over the world, are needed to apply modern science to develop therapies to combat orphan diseases."
One hopeful sign in relation to the great debilitating diseases of the developing countries is that the problem of neglect by the scientifically advanced nations has finally been noted. Buried deep in the proposed budget for the Department of Health, Education and Welfare is an item called the President's International Health Initiative, which includes several million dollars for research on orphan diseases.
The amount, however, is minuscule in relation to the toll taken by these diseases, and given the fact that scientists possess a lot of influence over the allocation of the government's research budget, the case for a rapidly expanded effort ought to be asserted.
For here again is one of those situations in which the scientific community can continue to chug along with its own complacent agenda or it can sensitively respond to the problem before scientifically insensitive politicans start clamoring for miracles.