Contributing Author: Gina Hagler There are 7,000 known rare diseases in the world. Each of them affects less than 1% of the global population, although ultra-rare diseases affect fewer still. The majority of rare and ultra-rare diseases are monogenic in nature, meaning they are caused by an error in a single gene. Years ago, a rare disease diagnosis left parents with their worst fears realized and little that could be done. Today, genomic testing can pinpoint the exact location of the genetic...
