Rare diseases: Challenges and resources

Abstract

Today rare diseases affect millions of people, of all ages, around the world. However, there are countless others who are affected or at risk but remain undiagnosed and unaware of their disease. Rare diseases are frequently serious and life altering while many are life threatening or fatal.  By definition rare diseases affect a relatively small population, making it a challenge to develop drugs and medical devices that prevent, diagnose, and treat these diseases. Scientists have found that rare diseases are usually genetic and chronic.