New Books In Science

Advances in medicine have made possible better treatments for widespread, familiar human illnesses like cancer, diabetes, and heart disease. Yet there are thousands of much less common diseases, most of genetic origin, each classed as rare because it afflicts only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Yet these orphaned diseases collectively caused misery and expense, often far greater than did more common ailments, for tens of millions of individuals and their families. Forty years ago, a revolution that transformed the prospects of patients with rare diseases was lit by three sparks. The passage of the 1983 U.S. Orphan Drug Act resulted from public pressure brought by rare disease patients, their families, and advocates. The AIDS epidemic triggered additional activism, compounded when patients with the rare disease hemophilia became HIV-positive afte