Several thousand rare diseases affect an estimated 25 million Americans, and only a few hundred of these conditions have any U.S. Food and Drug Administration-approved treatment.

During Rare Disease Day, which is now an annual event, nearly 1,000 individuals came together in person and via a webcast, from both the public and private sectors. The day featured highlights of rare diseases research and the development of diagnostics and treatments, and provided opportunities for dialogue among scientists, patients, patient advocates and policymakers.

A costly toll

Rare diseases are devastating and costly for patients, their families and the nation. This is partly due to the severity of these conditions, and because diagnosis can be difficult and often only possible long after symptoms have appeared. Treatment often is unavailable even after a disease is diagnosed.

“This is partly due to the severity of these conditions, and because diagnosis can be difficult and often only possible long after symptoms have appeared.”

Other rare diseases research obstacles include: designing clinical trials for small populations; recruiting widely dispersed research participants and scientific experts; accessing patient data through registries and other research resources; setting up central institutional review boards for multisite studies; and attracting public and private funding.

A swifter approach

The National Institutes of Health’s Clinical Center is a hospital at which researchers are studying about 535 rare diseases in partnership with nearly 2,250 unique patients. Of the principal investigators who work there, 260 out of 424 are studying a rare disease. 

Collaborative research on the commonalities and underlying molecular causes of rare diseases is driving progress, improving health through smarter science. This approach has the potential to speed development of treatments for multiple diseases simultaneously, and ultimately help more patients more quickly.