Mystery Diagnosis of Rare Diseases

Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a malady is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies.

  • Rarity of the condition or disease
  • Mystery illness program
  • Lysine (K)-specific demethylase 1A (KDM1A)
  • Enterovirus D68
  • Exome

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Mystery Diagnosis of Rare Diseases Conference Speakers

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