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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