The Ryan Foundation for Rare Disease Research

A rare disease is any disease or medical condition so rare in occurrence it receives little or no research as to its cause or cure. Rare Diseases, as defined by the US Congress and FDA, are diseases which affect less than 200,000 US citizens. Yet, if you add up all the people who have one of the more than 6,800 rare diseases, the total raises to over 25 million Americans. Only 200 of those illnesses currently have any treatment option. The fact that 30 percent of children who contract a rare disease will die before reaching the age of five years old is undisputed.

According to the Global Genes Project, Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 300 million people globally.  Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.  The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

While individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined.  Despite its size, the community lacks of a unified voice, as only 15% of rare diseases have organizations or foundations providing support or driving research.

It is estimated that 95% of all rare diseases do not have a single FDA approved drug treatment, and there are currently less than 400 treatments approved by the FDA  for the nearly 7000 rare diseases which have been identified. According to estimates from the NIH, it will take 10,000 years at the current rate of FDA drug approvals to find therapies for all people suffering from rare and genetic diseases.