There are many reasons why one might support research into a specific rare disease.  Perhaps a family member or other loved one has fallen ill to the disease.  Perhaps they themselves suffer from a rare disease about which little is known.  Maybe one supports research into a rare disease in the hope that the research translates into a commercial enterprise, propelling our whole nation forward for the compounding effects of that initial investment on economic growth.

Whatever one’s reasons are to support research into a specific rare disease, those reasons become even more compelling when one considers rare disease research as a whole.

Much of what is known of human health, wellness, and illness is a result of research into the causes and nature of specific rare diseases.  It’s not necessarily that the researchers of those rare diseases were searching for broader understanding of their research on conditions that affect much larger populations.  Quite the contrary:  it is typically the reevaluation and synthesis of individual findings after-the-fact that we come to appreciate the implications of new knowledge.  In this way the answering of targeted research questions by talented and dedicated researchers armed with the scientific method is a proven means to advancing our understanding of ourselves and of our health.

This is just how scientific discovery works;  one can never know the implications of one’s findings until they are communicated more broadly to other researchers in the field, and those researchers subsequently have a chance to reflect on the findings and incorporate them into their own ongoing efforts.  The tower grows taller.

One illustrative example of this phenomenon is the broad use of statins in managing cholesterol.  You may be surprised to learn that the original research showing the relationship between statins and cholesterol lowering was done in the context of a rare disease called Familial Hypercholesterolemia (commonly referred to as FH for short).  FH is a genetic disease whereby the body accumulates too much cholesterol in the blood, and statins were originally researched as a treatment for this rare disease.  The relationship between lowering cholesterol in otherwise healthy people and a reduced chance of developing atherosclerosis and heart disease in wider populations came much later as more research into the matter was conducted that confirmed the hypothetical benefits.  Today, statins are widely used to manage cholesterol in many people who benefit from their use, particularly for those who are known to be at risk of developing heart disease.

Here’s the troubling news:  in the midst of the continuing efforts by our elected officials in Washington, DC to curtail Federal spending and reduce the Federal debt and annual deficits,  policy makers are beginning to question the value of investments like those of rare disease research as they shake the proverbial couch-cushions for loose change.

“We just can’t afford it right now,” the pundits say.  ”We need to learn to do more with less,” is echoed.  For members and allies of the rare disease community, this is troubling talk.  Research into rare diseases has a clear and demonstrable benefit to all Americans and has long been viewed as a public good (principally through the efforts of the National Institutes of Health, but also the National Science Foundation and others).

The truth is that there never was a better time than right now to make even greater investments into rare disease research, and when the next billion dollar industry takes root here at home from the investments we make in research today, the budgetary impact will appear trivial in hindsight.

I leave you with this excellent quote by William Harvey (1578-1657) who discovered the circulation of blood in the human body–

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows tracings of her workings apart from the beaten paths; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease.”