Background

There are approximately 7,000 rare diseases that individually affect less than 200,000 people but in aggregate affect an estimated 25 million Americans. 80% of all rare diseases are of genetic origin and approximately 50% of the people affected by rare diseases are children.

The great majority of rare diseases do not have one single FDA approved drug treatment and approximately half of all rare diseases do not have a disease specific foundation supporting. During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.

Recent scientific advances provide cost effective approaches to developing new treatments for rare diseases.

  • Falling prices of genetic tests allows for rapid and precise identification of the genetic causes of a disease.
  • Novel high-throughput screening technologies enable very targeted “repurposing” of FDA approved drugs dramatically increasing success rates and decreasing overall cost and “time to patient.”
  • The advancement of the Internet allows for new ideas and scientific results to be widely and rapidly disseminated.

The right conditions are given for parents to drive the process of developing cures for their children’s rare diseases.