Mystery Diagnosis of Rare Diseases

Diagnostic error in medicine is common. For example, a study from an intensive care unit demonstrated nearly 20% discordance between the clinically-defined cause of death and findings at post-mortem examination. Not surprisingly; therefore, the diagnosis of rare diseases is often delayed. Rare diseases affect likely 2-4% of the population. These diseases often have a genetic basis, either as uncommon recessive conditions or as the result of “de novo” genetic mutations not present in either parent. They can take varied and often debilitating form.

  • Nonspecific symptoms
  • Methodological Issues
  • Research funding gaps
  • Small patient pool
  • Rarity of the condition or disease

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