HGMD informs our understanding of rare inherited diseases


QIAGEN Digital Insights

HGMD informs our understanding of rare inherited diseases

We often think of rare diseases as being rare, affecting only a small number of people. When looked at from the perspective of a specific disease, that picture holds true. By definition a rare disease affects less than 200,000 individuals in the US or less than 1 individual in 2,000 in Europe. But the picture changes as we take a step back and consider the more than 6,000 described rare diseases as a whole. From this perspective they really aren’t so rare after all. In fact, rare diseases are estimated to affect as many as 400 million people worldwide. Furthermore, they’re incredibly diverse and complex with more than 180,000 associated mutations having been published in the scientific literature.

Watch our short video to see how easy it is to identify the published mutations for any inherited disease using HGMD. As examples we profile five rare diseases that are the subject of awareness campaigns this month:

  • Prader-Willi Syndrome
  • Ehlers-Danlos Syndrome
  • ALS
  • Huntington Disease
  • Cystic Fibrosis