Decoding Rare and Inherited Diseases with Genetic Technologies

Get an overview of different methods used to study rare diseases

Rare diseases are classified as conditions affecting just a small number of the population; however, collectively they impact 473 million people worldwide. Over 10,000 rare diseases are known, with 39% having a confirmed genetic origin.

Download our eBook to learn about:

  • The prevalence and impact of rare diseases such as Huntington’s disease and Duchenne muscular dystrophy, including interviews with researchers studying these conditions
  • How these diseases are studied at the genetic level utilizing genetic technologies such as Sanger sequencing, quantitative real-time PCR (qPCR), digital PCR (dPCR), and microarray
  • How these genetic technologies can enable researchers to analyze genes and understand how changes in these genes can lead to disease
  • Different methods used to study these conditions, ranging from large-scale discovery-based research to more targeted detection of specific genes and mutations
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