Rare diseases, when taken together, are not that rare at all. In fact, 30 million Americans, or 10 percent of the population, have one of the 7,000 known rare diseases, of which 80 percent are genetic in origin. Half of those affected worldwide are children.1 A disease is generally defined

as “rare” when, by itself, it affects fewer than 200,000 people in the United States.1 However, many rare diseases impact significantly smaller groups of patients, sometimes as small as a few hundred.

Simply getting to a diagnosis can be a complicated, lengthy and frustrating journey for people with a rare disease. Many health care providers may have limited experience with the identification and diagnosis of rare diseases. Also, diagnosis before symptom onset or diagnosis early in the disease can be very challenging.

Developing medicines for patients with rare diseases presents one of the most scientifically complicated health challenges of our time. The underlying biological mechanisms of a rare disease are often complex, making it difficult to design and implement research and development strategies. Additionally, due to the inherently small population of patients with a rare disease, recruiting for and conducting clinical studies can be difficult.

For many rare diseases, there are gaps in knowledge regarding the natural history of disease. This gap in scientific and medical knowledge presents challenges when trying to research, diagnose, and develop medicines for rare diseases. The underlying biology of the disease may be very complex and poorly understood, and research to fill in the gaps can be difficult and time- consuming given the small numbers of people with the rare disease. Continued research and improved understanding of rare diseases will accelerate the development of medicines for rare diseases.

Despite these challenges, this is a time of progress and hope. Biopharmaceutical researchers have leveraged new technologies and the growing scientific understanding of many rare diseases to develop groundbreaking therapies over the last 10 years. Read the full report here.

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