Rare Diseases

Thomas Splettstoesser, via Wikimedia Commons. Distributed under a CC BY-SA 4.0 license.

It is estimated that there are around 7,000 rare diseases, although the number could be as high as 10,000. Almost one in ten Americans has a rare disease, underscoring the fact that these diseases are individually rare, but collectively common.

I recently wrote a factsheet for the American Society for Human Genetics on rare diseases, the majority of which have a genetic basis. Take a look: Rare Diseases Factsheet.