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Unfortunately, rare diseases often are difficult to diagnose, and in many cases, few or no treatment options are available. Because of the rarity of each disease itself, however, much remains unknown about the underlying causes and the clinical course of many rare diseases. Even within a particular rare disease, there can be many variations or subtypes resulting in different clinical manifestations and disease progression.

There is an urgent need for continued research to map the genes responsible for rare diseases, identify genetic and other biologic anomalies that contribute to these conditions, and understand the natural history of rare diseases to inform the development of potential therapies.