people with hemoglobinopathies, such as sickle cell anemia and thalassemia. Understanding of the urea cycle was gleaned from the experiences of patients with urea cycle disorders. Patients with diseases such as phenylketonuria (PKU) provided knowledge about amino acid metabolism. These are but a few of the hundreds of known examples. Absent patients with rare diseases, many basic aspects of medical science would be less well understood. Despite these benefits, however, opportunities for research on rare diseases and the ability of patients to receive licensed therapies for these illnesses have historically been limited.

In this context emerged the National Organization for Rare Disorders (NORD), a powerful political movement founded by grassroots organizer Abbey Meyers. She knew that rare diseases were individually infrequent but collectively common. Meyers and several others who shared her vision drafted legislation that would change the way drugs are developed. The most important feature was an allowance for 7 years of market exclusivity, during which a company could recoup some of the expense of drug development. Additionally, tax credits and exemptions from fees made it possible to build a sound business model on investments in products for rare diseases. Clarifying terminology, Coté explained that “rare” is defined by regulation as diseases that affect fewer than 200,000 people in the United States; “neglected” is the term used by the tropical medicine community. While tropical diseases have significant impact in the developing world, all tropical diseases are rare diseases as defined in the U.S. Orphan Drug Act.

Biotechnology as an industry was propelled into a major expansion by the Orphan Drug Act. Thousands of scientific, commercial, and humanitarian opportunities were made possible by the act that could otherwise not have existed. Historically, pharma has been less than fully responsive to these opportunities, but this situation is changing as the country’s larger scientific and fiscal drug enterprise recognizes the value of investing in orphan drug development.

The crafters of the Orphan Drug Act also intended to jumpstart the science behind rare diseases. The establishment of the National Institutes of Health’s Office of Rare Diseases is a prime example of this. Congress also established the Orphan Products Grant Program at FDA, administered by OOPD, which Coté believes “has become the single most tangibly productive grants program in the entire U.S. government.” The program is currently funded at only $14 million per year and has been declining in buying power over the past 15 years; nonetheless, it has yielded 41 FDA-approved therapies.

During the 25-year history of OOPD, the program has been successful, granting more than 1,850 orphan drug designations, 326 of which have received full FDA marketing approval (see Figure 3-1). And as noted above, 41 of these drugs came out of the OOPD grants program. FDA

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