CHI – Combating Rare Disease in the 21st Century

Read the full report here: CHI Rare Disease Policy Report


Although called rare or orphan diseases – defined as conditions affecting fewer than 200,000 people in the United States – there are more than 7,000 such conditions, affecting 30 million Americans. Collectively, rare diseases represent a significant public health challenge.

Quite often these are genetic, childhood conditions, in some cases caused by a single gene mutation that may or may not be inherited from a parent’s genes. Because they are so rare, and many families may not have prior experience with the condition, simply getting a diagnosis can be an agonizing, years-long process. In addition, because these diseases are so uncommon, many doctors have no experience treating them and there may only be a handful of physicians in the world who have any experience with a given condition.

Even after diagnosis, patients still face barriers to care: 95 percent of rare diseases have not one single U.S. Food and Drug Administration (FDA) approved drug treatment. The absence of treatments for rare diseases actually used to be much worse. While many products and therapies were developed to treat cancer, heart disease and other common conditions, from 1973-1983, fewer than 10 rare disease therapies were developed.