Advocacy

Rare diseases, although uncommon in the general population, nevertheless affect millions of people worldwide. In the United States, a disease is typically considered rare if it affects fewer than 200,000 people. Some are ultra-rare, affecting fewer than 100 people.

More than 10,000 rare diseases have been identified to date. These include genetic diseases, rare cancers, tropical or neglected diseases, and many pediatric diseases. They are often life-threatening and have few or no approved treatments. Research, diagnosis, and treatment development moves slowly. Because each rare disease affects a small number of patients, it can be difficult to recruit enough subjects for clinical trials.

Further, progress is often stalled by limited investment and regulatory barriers. Even when treatments are approved, patients may still face insurance and coverage hurdles that block access to potentially lifesaving care. Despite these challenges, rare disease research continues to open the door to important scientific breakthroughs that can benefit both rare and common conditions.